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Background and aims: Public health concerns regarding pregnant women's health after the enactment of the Cannabis Act in Canada (CAC) (a law that allowed non‐medical cannabis use), and the potential impact of the COVID‐19 pandemic, call for a contemporary assessment of these two events. Our study measured associations between the CAC, the COVID‐19 pandemic and the monthly prevalence rates of cannabis‐, all drug‐ and alcohol‐related diagnosed disorders among pregnant women in the province of Quebec. Design, setting and participants: This was a quasi‐experimental design applying an interrupted time‐series methodology in the province of Quebec, Canada. The participants were pregnant women aged 15–49 years, between January 2010 and July 2022. Measurements: Administrative health data from the Québec Integrated Chronic Disease Surveillance System were used to classify pregnant women according to cannabis‐, all drug (excluding cannabis)‐ and alcohol‐related disorders. The CAC (October 2018) and the COVID‐19 pandemic (April 2020) were evaluated as (1) slope changes and (2) level changes. Cannabis‐, all drug (excluding cannabis)‐ and alcohol‐related disorders were measured by total monthly age‐standardized monthly prevalence rate of each disorder for pregnant women aged 15–49 years. Findings Before the CAC, the prevalence rate of cannabis‐related diagnosed disorders significantly increased each month by 0.5% [95% confidence interval (CI) = 0.3–0.6] in the pregnant population. After the CAC, there were significant increases of 24% (95% CI = 1–53) of cannabis‐related diagnosed disorders. No significant changes were observed for all drug (excluding cannabis)‐ and alcohol‐related diagnosed disorders associated with the CAC. A non‐significant decrease of 20% (95% CI = −38 to 3) was observed during the COVID‐19 pandemic in alcohol‐related disorders. Conclusions: The monthly incidence rates of diagnosed cannabis‐related disorders in pregnant women in Quebec increased significantly following the enactment of the Cannabis Act in Canada. Diagnoses of all drug (excluding cannabis)‐ and alcohol‐related disorders remained relatively stable. [ABSTRACT FROM AUTHOR]

Purpose: This is a retrospective comparative study. We aimed to analyze the results of karyotype and chromosomal microarray analysis (CMA) of amniotic fluid across different gestational weeks and evaluate the clinical value in prenatal diagnosis, particularly in the late pregnancies. Methods: Samples from 580 pregnant women of 18–23 weeks of gestation (mid-gestation group) and 196 pregnant women of 24–32 weeks of gestation (late group) were performed both standard G-band karyotype analysis and CMA. Results: Among the 580 pregnant women in the routine group, the most common indications were positive Down's screening (213/580, 36.7%), followed by advanced maternal age (196/580, 33.8%); while fetal structural anomalies on ultrasonography were the top reason for amniocentesis in the late group (56/196, 28.6%). In the routine group, the total detection rate was 12.1% (70/580), of which 4.1% (24/580) were identified by karyotype analysis and 11.2% (65/580) by CMA. The total detection rate was 15.3% (30/196) in the late group, of which 5.1% (10/196) were detected by karyotype analysis, and 14.3% (28/196) by CMA. Conclusion: Karyotype analysis and CMA are complementary in detecting chromosomal abnormalities. Amniotic cavity puncture in the karyotype analysis in 18–23 weeks of gestation and 24–32 weeks of gestation is safe and effective, more obvious effect on the latter. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study was to examine whether there is a correlation between different types of ventricular septal defects (VSD) and chromosomal abnormalities in the low-risk setting of non-invasive prenatal testing (NIPT) and to evaluate the prognosis of fetuses with varying types of VSD. Methods: Cases of pregnant women who underwent amniocentesis due to fetal VSD were collected by Tianjin Central Hospital of Obstetrics and Gynecology from May 2017 to May 2022. Exclusions were made for those without NIPT, with high-risk NIPT results, genetic disorders, and those lost to follow-up. Data collected included ultrasound classification of VSD, prenatal NIPT results, copy-number variations (CNVs) results, and neonatal outcomes. Results: The prevalence of pathogenic CNVs was investigated in 74 cases of VSDs. Of these cases, 45 were isolated VSDs (9 muscular and 36 non-muscular) and 29 were non-isolated VSDs (10 with intracardiac and 19 with extra-cardiac structural anomalies). The results revealed that the incidence of pathogenic CNVs was lower in isolated VSDs compared to non-isolated VSDs in a low-risk NIPT condition (χ2 = 9.344, P = 0.002). There was no significant difference in the prevalence of pathogenic CNVs between VSDs with intracardiac and extra-cardiac structural anomalies (P = 0.541). Moreover, VSDs associated with intracardiac structural anomalies had the highest rate of surgical intervention. Conclusion: When NIPT is low-risk and VSD is isolated, the likelihood of fetal chromosomal defects is not increased. However, if there are intra- or extra-cardiac structural abnormalities present alongside VSD, the possibility of pathogenic CNV is considerably greater, necessitating invasive prenatal diagnosis. Isolated muscular VSDs usually do not require surgery, which can be used as a basis for prenatal counseling regarding fetal VSD. [ABSTRACT FROM AUTHOR]

Objective: We sought to analyze the genetic outcomes of fetuses with nuchal translucency (NT) > 95th centile, and determine whether prenatal genetic counseling, chromosomal microarray analysis (CMA) or non-invasive prenatal testing (NIPT) are truly beneficial for the outcomes of fetuses with increased NT > 95th centile and below 99th centile. Materials and methods: A total of 535 pregnant women were included in this study, with a fetal NT > 95th centile at 11–13+6 weeks of gestation from January 2017 to December 2020. 324 pregnant women with fetal NT > 95th centile and below 99th centile combined with other risk factors and NT > 99th centile received prenatal diagnostic karyotype analysis and CMA, and 211 pregnant women with fetal isolated increased NT > 95th centile and below 99th centile were selected to carry out NIPT. Results: A total of 211 pregnant women who underwent NIPT were included in the study, NIPT results showed that 8 high-risk cases were confirmed by prenatal diagnosis. Overall, the detection rate of NIPT was 3.79%. A total of 324 pregnant women with fetal NT > 95th centile and below 99th centile, along with other risk factors, and those with fetal NT > 99th centile, received karyotype analysis and CMA for prenatal diagnosis. Among them, a total of 73 genetic abnormalities were detected, including 45 cases of chromosomal aneuploidy, 7 cases of structural abnormalities, and 21 cases of copy number variations (CNVs) with a size of less than 10 Mb. In addition, the 73 women with genetic abnormalities are divided into three groups based on the NT measurement (Group 1: Fetuses with NT > 95th centile and below 99th centile, Group 2: Fetuses with NT > 99th centile, and Group 3: Fetuses with NT > 99th centile). 13.11% (8/61) of pathogenic genetic abnormalities (6 chromosomal aneuploidy, 1 structural abnormality, and 1 likely pathogenic CNV) will be missed if genetic counseling and prenatal genetic testing were not conducted in fetuses with increased NT > 95th centile and below 99th centile combined with other risks. Pathogenic CNVs were the most common abnormalities in group 3, and one likely pathogenic CNV was detected in group 1 and group 3, respectively, and a total of 14 CNVs of unknown clinical significance (VOUS) were detected. Conclusions: Through this study, we demonstrated that the critical value of NT > 95th centile for invasive detection or NIPT. Invasive testing combined with CMA may be recommended for fetuses with NT > 95th centile and below 99th centile and with other risks. But when isolated NT > 95th centile and below 99th centile, NIPT would be appropriate. [ABSTRACT FROM AUTHOR]

There is a lack of standardized measurement tools globally to assess knowledge, attitudes, and perceptions of expecting women toward prenatal screening. The purpose of this systematic review was to identify reasons women pursue or decline prenatal screening and compare the strengths and limitations of available measurement tools used to assess pregnant women's perceptions, knowledge, and attitudes toward prenatal screening. This review followed the five-step York methodology by Arksey and O'Malley and incorporated recommendations from the Preferred Reporting Items for Systematic Reviews and Meta-Analysis checklist for the extraction, analysis, and presentation of results. The five steps consisted of: (1) identification of the research questions; (2) searching for relevant studies; (3) selection of studies relevant to the research questions; (4) data charting; and (5) collation, summarization, and reporting of results. Four online databases (PubMed, Embase, Web of Science, and Cochrane Library) were selected after the librarian's development of a detailed search strategy. The Rayyan platform was used between June 2023 and August 2023 to epitomize the articles produced from our search. A total of 68 eligible studies were included in the analysis. The top five major reasons for declining prenatal screening uptake included (1) being unsure of the risk of prenatal screening and harm to the baby or miscarriage (n = 15), (2) not considering action such as termination of pregnancy for prenatal screening to be considered as necessary (n = 14), (3) high cost (n = 12), (4) lack of knowledge about testing procedures and being anxious about the test (n = 10), and (5) being worried about probability of false negative or false positive results (n = 6). Only 32 studies utilized scientifically validated instruments. Difficulties in capturing representative, adequately sized samples inclusive of diverse ethnicities and demographics were pervasive. Findings highlight the need for rigorous validation of research measurement methodologies to ensure the accuracy and applicability of resulting data regarding the assessment of prenatal screening perceptions, knowledge, and attitudes across diverse female populations. Registration: N/A. Plain Language Summary: Measurement tools used to assess knowledge, attitudes, and perceptions of pregnant women toward prenatal screening The following systematic review provides a comprehensive summary and quality evaluation of measurement tools used globally to assess the role of knowledge, attitudes, and perceptions of pregnant women in seeking prenatal tests. [ABSTRACT FROM AUTHOR]

Backgroud: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes. Methods: In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. Results: Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed. Conclusions: This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P. [ABSTRACT FROM AUTHOR]

Background: There are no established guidelines for the follow up of infants born after a prenatal diagnosis of a genomic copy number variant (CNV), despite their increased risk of developmental issues. The aims of this study were (i) to determine the perinatal outcomes of fetuses diagnosed with and without a CNV, and (ii) to establish a population-based paediatric cohort for long term developmental follow up. Methods: An Australian state-wide research database was screened for pregnant individuals who had a prenatal chromosomal microarray (CMA) between 2013–2019 inclusive. Following linkage to laboratory records and clinical referrer details, hospital records were manually reviewed for study eligibility. Eligible participants were mother–child pairs where the pregnancy resulted in a livebirth, the mother was able to provide informed consent in English (did not require a translator) and the mother was the primary caregiver for the child at hospital discharge after birth. Research invitations were sent by registered post at an average of six years after the prenatal diagnostic test. Statistical analysis was performed in Stata17. Results: Of 1832 prenatal records examined, 1364 (74.5%) mother–child pairs were eligible for recruitment into the follow up cohort. Of the 468 ineligible, 282 (60.3%) had 'no live pregnancy outcome' (209 terminations of pregnancy (TOP) and 73 miscarriages, stillbirths, and infant deaths), 157 (33.5%) required a translator, and 29 (6.2%) were excluded for other reasons. TOP rates varied by the type of fetal CNV detected: 49.3% (109/221) for pathogenic CNVs, 18.2% (58/319) for variants of uncertain significance and 3.3% (42/1292) where no clinically significant CNV was reported on CMA. Almost 77% of invitation letters were successfully delivered (1047/1364), and the subsequent participation rate in the follow up cohort was 19.2% (201/1047). Conclusions: This study provides Australia's first population-based data on perinatal outcomes following prenatal diagnostic testing with CMA. The relatively high rates of pregnancy loss for those with a prenatal diagnosis of a CNV presented a challenge for establishing a paediatric cohort to examine long term outcomes. Recruiting a mother–child cohort via prenatal ascertainment is a complex and resource-intensive process, but an important step in understanding the impact of a CNV diagnosis in pregnancy and beyond. Trial registration: ACTRN12620000446965p; Registered on April 6, 2020. [ABSTRACT FROM AUTHOR]

Aim Methods Results Conclusions In Japan, noninvasive prenatal testing (NIPT) has been performed by facilities accredited by the Japanese Society of Obstetrics and Gynecology since 2013. However, since 2016, with the implementation of NIPT, which can only be performed by blood sampling, non‐obstetricians have been involved in prenatal testing. Therefore, in July 2022, a new government‐involved NIPT certification system based on Health Sciences Council guidelines was introduced to ensure access to prenatal testing information for pregnant women.This survey was conducted in February 2023 and was the first survey after the certification system implementation. We conducted a web‐based survey of 1227 pregnant women and nursing mothers who underwent NIPT after July 2022 to evaluate their experiences.Respondents were categorized by certification status as certified (C: 56%), non‐certified (non‐C: 23%), or uncertain (Q: 20%). The C group with a higher mean age at examination (35.0 ± 4.5 years) paid lower examination fees, received longer pre‐ and post‐examination explanations, and underwent more weekday examinations (80%) than the other groups. Most respondents, 67%, 48%, and 53% in the C, non‐C, and Q groups, respectively (p < 0.0001), stated that “NIPT needs to be regulated by the government or academic societies.” The non‐C group was more likely to say, “Insufficient post‐test explanations at the laboratory made me more anxious,” than the other groups when the testing results were non‐negative (p = 0.015).Despite government regulation, some pregnant women choose convenience over certified facilities, risking inadequate care. The government should ensure that NIPT is a safe option for all pregnant women. [ABSTRACT FROM AUTHOR]

Background/Objectives: Cell-free DNA (cfDNA) is a non-invasive prenatal test used to screen for common trisomies (target cfDNA) that can be expanded to assess all autosomal chromosomes (genome-wide cfDNA). As cfDNA testing gains popularity, it is crucial to examine the factors influencing the decision-making process of pregnant individuals when choosing between these two approaches. Methods: In this prospective cohort study, 190 individuals undergoing cfDNA testing for aneuploidy screening, according to the current screening protocol, were allowed to make their own choice between target and genome-wide cfDNA testing. They were asked to complete a first survey at 11–13 weeks, designed to explore their characteristics, preferences, and satisfaction with the prenatal genetic counseling session, as well as a Decisional Conflict Scale. A postnatal survey was administered three months after delivery, including the Decisional Regret Scale and two open questions. Results: 84% of participants opted for genome-wide cfDNA. However, 17% found the decision challenging, and 14% felt that the results might increase anxiety. No significant differences in participant characteristics were found when comparing decisions between genome-wide and target cfDNA. However, significant differences were observed regarding ethnicity (p = <0.001), educational level (p = 0.029), previous cfDNA experience (p = 0.004), and having sufficient information when comparing termination options (p = 0.002). After delivery, only 4% would have changed their decision. Conclusions: Individuals, regardless of their characteristics, prefer genome-wide cfDNA; however, the complexity of the results necessitates enhanced genetic education for prenatal care clinicians. [ABSTRACT FROM AUTHOR]

Objective: Fetal goiter is rare and may cause polyhydramnios, fetal growth restriction, and congenital hypothyroidism. We aimed to report a rare case of fetal goiter complicated by polyhydramnios in a pregnant woman. Case(s): A 32-year-old woman with a 32-week pregnancy was referred to us because of polyhydramnios. Ultrasound examination revealed fetal asymmetric growth restriction and severe polyhydramnios. The fetal stomach was smaller, and pharyngeal dilatation and approximately 50x45 mm fetal neck mass (goiter) were observed. Also, mild hypothyroidism was detected in maternal thyroid function tests. In-utero treatment was initiated with 200 µg of levothyroxine injected into the amniotic sac. This treatment was repeated every 10 days for 2 doses following the initial dose. After levothyroxine treatment, fetal goiter and amniotic fluid volume completely recovered until birth. Conclusion: Fetal goiter can be successfully treated with an intraamniotic injection of levothyroxine. [ABSTRACT FROM AUTHOR]

Background and Objectives: Choriocarcinoma is an aggressive oncological disease that manifests as trophoblast tissue proliferation. The vast majority of primary lesions affect the uterus, with primarily extrauterine lesions being a rarity. Choriocarcinoma with an ongoing pregnancy is extremely rare because fetuses usually do not survive the third trimester. Case Report: We present a case of heterotopic tubal choriocarcinoma coexisting with a viable intrauterine pregnancy. A 30-year-old, 39-week pregnant woman (gravida 2, para 2) came to our hospital complaining of acute upper abdominal pain. During routine prenatal screening in the first trimester, no pathological ultrasound findings were detected. Similar abdominal pain episodes had been recorded at 18, 27, and 32 weeks of gestation, when patient was hospitalized for examination and observation, but the cause of symptoms at that time of gestation remained unclear. The patient underwent an emergency caesarean section due to severe abdominal pain and fetal compromise. She delivered a live male infant. During the surgery, around 1000 mL of blood clots were evacuated, and the excision of the right fallopian tube and masses, as well as the control of significant blood loss was performed. Postoperative serum beta-hCG was elevated to 139 482 IU/L, while imaging studies showed no metastasis. The histological examination of the excised tissue samples confirmed a diagnosis of tubal choriocarcinoma. With a FIGO score of 8, the patient received three courses of the EP/EMA regimen. After more than a year, the patient showed no radiographic signs of distant metastasis and is now in complete remission. Conclusions: This case highlights the diagnostic complexity of such extremely rare scenarios. Even though such cases are rare, it demonstrates the necessity for improved diagnostic measures to enhance patient outcomes in similar clinical situations. [ABSTRACT FROM AUTHOR]

Background: Antenatal depression is a significant public health issue affecting pregnant women both globally and in China. Using data from a mobile app-based screening programme, this study explored the prevalence and factors associated with antenatal depressive symptoms across different trimesters in Shenzhen. Methods: A retrospective cross-sectional study was conducted on pregnant women who gave birth in any hospital in Shenzhen between July 2021 and May 2022 and underwent depression screening using an official maternal and infant health mobile app at least once during pregnancy. Depressive symptoms were evaluated using the 9-item Patient Health Questionnaire (PHQ-9), with cut-off scores of 5 and 10 for mild and high level of symptoms, respectively. The prevalence for each trimester was determined by calculating the proportion of women scoring 5 or higher. A variety of sociodemographic, obstetric, psychological, and lifestyle factors were assessed for their association with depressive symptoms. Chi-square test and multivariate logistic regression were performed to identify significant predictors. Results: A total of 110,584 pregnant women were included in the study, with an overall prevalence of depressive symptoms of 18.0% and a prevalence of high-level symptoms of 4.2%. Depressive symptoms were most prevalent in the first trimester (10.9%) and decreased in the second (6.2%) and third trimesters (6.3%). Only a small proportion (0.4%) of women showed persistent depressive symptoms across all trimesters. Anxiety symptoms in early pregnancy emerged as the most significant predictor of depressive symptoms. Other factors linked to an increased risk throughout pregnancy include lower marital satisfaction, living with parents-in-law, experience of negative life events, as well as drinking before and during pregnancy. Factors associated with a reduced risk throughout pregnancy include multiparity and daily physical activity. Conclusions: This large-scale study provides valuable insights into the prevalence and factors associated with antenatal depressive symptoms in Shenzhen. The findings underscore the need for targeted interventions for high-risk groups and the integration of mental health care into routine antenatal services. Continuous, dynamic monitoring of depressive symptoms for pregnant women and ensuring at-risk women receive comprehensive follow-up and appropriate psychological or psychiatric care are crucial for effectively addressing antenatal depression and improving maternal and infant health outcomes. [ABSTRACT FROM AUTHOR]

Background: A recently discovered measurement called transverse cerebellar diameter (TCD) is used to estimate a fetus's gestational age (GA). When determining GA, the measurement of TCD is incredibly accurate, especially when the last menstrual period (LMP) date is uncertain. Objective: This study aimed to assess the diagnostic accuracy of fetal TCD as independent parameter in diagnosis of intrauterine growth restriction (IUGR). Patients and methods: This prospective observatory study was conducted in Obstetrics and Gynecology Department, Menoufia University Hospital and Berket El-Sabaa Central Hospital through the period from November 2022 to February 2024. 200 pregnant women attended to Antenatal Care Outpatient Clinic for follow up with a mean age of 26.43 ± 6.115 years old, singleton pregnancy, GA more than 13 weeks and clinically suspected intra uterine fetal growth restriction (FGR) were enrolled. Results: The study included individuals with a mean parity of 1.47 ± 1.5, a mean BMI of 26.32 ± 5.028 kg/m², and 19% of patients were obese. There was a highly statistically significant lower mean value of GA by TCD in IUGR was 27.18 ± 7.454 compared to Non-IUGR that was 34.95 ± 3.502 (p<0.001). Conclusion: TCD is a critical measure for identifying IUGR and appropriately measuring GA. This is especially crucial for patients who arrived at the hospital without any medical records or prior prenatal care visits, particularly those from low-income families. These individuals frequently do not recall their LMP or estimated date of delivery (EDD), making it difficult for clinicians to precisely determine the GA of the fetus, especially in situations of IUGR. [ABSTRACT FROM AUTHOR]

Purpose: To establish a reliable nomogram model to predict the risk of major adverse pregnancy outcomes in pregnant women with adenomyosis, and to provide a reference tool for the hierarchical management and the prenatal examination of pregnant women. Methods: We collected the clinical data of pregnant women with adenomyosis who were treated in the First Affiliated Hospital of Chongqing Medical University, the Women and Children's Hospital of Chongqing Medical University, and Yubei District People's Hospital of Chongqing from January 2014 to June 2020. They were divided into the training cohort and the validation cohort, respectively. In the training cohort, we screened out risk factors associated with major adverse pregnancy outcomes and established a model, which was subsequently validated. Results: In the training cohort, we found that previous parity, natural conception or not, type of adenomyosis, with or without endometriosis, history of infertility or adverse pregnancy outcomes, and history of uterine body surgery were associated with major adverse pregnancy outcomes of pregnant women with adenomyosis, and based on these factors, a nomogram model was constructed. The calibration curves of the model were well fitted in both the training and validation cohorts. The receiver-operating characteristic curve (ROC curve) showed that the area under the curve (AUC) was 0.873 and 0.851 in the training and validation cohorts, respectively. The optimal risk threshold of the model was 0.22, and this threshold can be applied to risk stratification of pregnant women. Conclusion: The nomogram model established in this study can reliably predict the risk of major APO in pregnant women with AD. [ABSTRACT FROM AUTHOR]

Technological advancements before and after delivery have greatly altered the counseling of pregnant patients facing a fetal diagnosis of severe oligohydramnios or anhydramnios secondary to congenital anomalies of the kidneys and urinary tract. Once considered a nearly uniformly lethal abnormality, long-term survival may now be possible secondary to prenatal innovations aimed restoring the amniotic fluid volume and the availability of more advanced neonatal dialysis techniques. However, these available therapies are far from perfect. The procedures are onerous for pregnant patients without a guarantee of success, and families must prepare themselves for the complex life-long medical care that will be necessary for surviving individuals. Multidisciplinary counseling is imperative to help pregnant individuals understand the complexity of these conditions and assist them in exercising their right to informed decision-making. Moreover, as with any developing field of medicine, providers must contend with ethical questions related to the treatment options, including questions regarding patient-hood, distributive justice, and the blurred lines between research, innovation, and standard care. These ethical questions are best addressed in a multidisciplinary fashion with consideration of multiple points of view from various subspecialties. Only by seeing the entirety of the picture can we hope to best counsel patients about these highly complex situations and help navigate the most appropriate care path. [ABSTRACT FROM AUTHOR]

Decisional conflict and regret about prenatal genetic screening and diagnostic tests may have important consequences in the current pregnancy and for future reproductive decisions. Identifying mechanisms that reduce conflict associated with the decision to use or decline these options is necessary for optimal patient counseling. We conducted a cluster-randomized controlled trial of a shared decision-making tool (NEST) at the beginning of prenatal care. Enrolled patients completed follow-up surveys at the time of testing (QTT) and in the second–third trimester (QFF), including the Decision Conflict Scale (DCS). Total DCS scores were analyzed using a multivariate linear mixed-effect model. Of the total number of participants (n=502) enrolled, 449 completed the QTT and QFF surveys. The mean age of participants was 31.6±3.8, with most parous at the time of study participation (n=321; 71.7 %). Both the NEST (the intervention) and control groups had lower median total DCS scores at QFF (NEST 13.3 [1.7, 25.0] vs. control 16.7 [1.7, 25.0]; p=0.24) compared to QTT (NEST 20.8 [5.0, 25.0] vs. control 18.3 [3.3, 26.7]; p=0.89). Participants exposed to NEST had lower decisional conflict at QFF compared to control (β −3.889; [CI −7.341, −0.437]; p=0.027). Using a shared decision-making tool at the start of prenatal care decreased decisional conflict regarding prenatal genetic testing. Such interventions have the potential to provide an important form of decision-making support for patients facing the unique type of complex and preference-based choices about the use of prenatal genetic tests. [ABSTRACT FROM AUTHOR]

To analyze the reasons for refusal of aneuploidy screening in a multicultural Middle Eastern population. The study included patients delivering in a university hospital, who had refused aneuploidy screening during their pregnancy. We evaluated through a questionnaire submitted during the postpartum period the sociodemographic characteristics, beliefs, attitudes, and the main reason underpinning their choice. Religious, ethical, and financial factors, personal beliefs, medical information, perceived media information, and familial input were assessed through a Likert scale. Our pilot study included 70 patients. The main reason (33 %) was the refusal to terminate pregnancy if the screening tests ultimately led to a diagnosis of aneuploidy. Lack of adequate information on the availability and benefits of this screening method (28 %), religious beliefs (17 %), in addition to other minor reasons such as financial considerations, familial recommendations, late pregnancy follow-ups, and media influence were also identified as contributing factors. Aneuploidy screening is routinely offered to couples, with varying uptake rates observed worldwide. Sufficient information on prenatal screening and diagnosis should be provided to all pregnant women, presenting all available options, thus enabling them to make a free and informed choice during their pregnancy. [ABSTRACT FROM AUTHOR]

This study evaluated whether IgG avidity measured by chemiluminescent microparticle immunoassay (CMIA) compared with enzyme-linked immunosorbent assay (ELISA) was useful to detect primary T. gondii infection during pregnancy and to estimate the risk for congenital T. gondii infection. One hundred six women with positive tests for T. gondii IgG and T. gondii IgM, comprising 21 women (19.8%) with low (<30%), 6 (5.7%) with borderline (30%–35%), and 79 (74.5%) with high (>35%) IgG avidity measured by ELISA were selected. Their stored sera were used for T. gondii IgG avidity measurements by CMIA. In CMIA, 72 (67.9%) women had low (<50%), 12 (11.3%) had borderline (50%–59.9%), and 22 (20.8%) had high (≥60%) IgG avidity. The ratio of low T. gondii IgG avidity index in CMIA was more than three-fold than that in ELISA. Eighteen (85.7%) of 21 women with ELISA low avidity also had CMIA low avidity, and 26 (96.3%) of 27 women with ELISA low or borderline avidity corresponded to CMIA low or borderline avidity, whereas 21 (26.6%) of 79 women with ELISA high avidity were diagnosed with CMIA low avidity. All three cases with congenital T. gondii infection showed coincidentally low IgG avidity in both methods. A positive correlation in IgG avidity indices was found between of ELISA and CMIA. CMIA for T. gondii avidity measurements compared with ELISA was clinically useful to detect pregnant women at a high risk of developing congenital T. gondii infection. [ABSTRACT FROM AUTHOR]

• Prenatal testing induces elevated anxiety levels among high-risk pregnant women. • The utilization of virtual reality and music during non-stress tests alleviates anxiety and enhances satisfaction among high-risk pregnant women undergoing the procedure. • Virtual reality intervention resulted in a reduction in the duration of reactive non-stress tests. Prenatal tests cause high-risk pregnant women to experience high anxiety levels. This paper investigated the effect of Virtual Reality (VR) and music on anxiety, non-stress test parameters, and satisfaction of high-risk pregnant women undergoing non-stress tests (NSTs). This was a randomized controlled trial. The sample consisted of 102 participants randomized into three groups (VR = 34, music = 34, and control = 34). Maternal anxiety was assessed using the Spielberger State-Trait Anxiety Inventory-S (STAI-S) before and after NSTs. Satisfaction was evaluated using the Visual Analogue Scale (VAS) after NSTs. NST parameters were evaluated after NSTs. The findings were reported based on the Consolidated Standards of Reporting Trials (CONSORT). The VR and music groups had significantly lower mean posttest STAI-S scores than the control group (p <.05). There was no significant difference in NST findings (reactive/nonreactive) between the groups (p >.05). The VR group had a significantly shorter reactive NST duration than the control group (p <.05). The VR and music groups had significantly higher mean VAS-satisfaction scores than the control group (p <.05) Virtual reality and music during NSTs help high-risk pregnant women experience less anxiety and satisfy them more with the procedure. We recommend that obstetric midwives and nurses use these low-cost, simple, and noninvasive methods to reduce anxiety in high-risk pregnant women during prenatal testing. [ABSTRACT FROM AUTHOR]

The association between prenatal exposure to general anaesthesia for maternal surgery during pregnancy and subsequent risk of disruptive or internalising behavioural disorder diagnosis in the child has not been well-defined. A nationwide sample of pregnant women linked to their liveborn infants was evaluated using the Medicaid Analytic eXtract (MAX, 1999–2013). Multivariate matching was used to match each child prenatally exposed to general anaesthesia owing to maternal appendectomy or cholecystectomy during pregnancy with five unexposed children. The primary outcome was diagnosis of a disruptive or internalising behavioural disorder in children. Secondary outcomes included diagnoses for a range of other neuropsychiatric disorders. We matched 34,271 prenatally exposed children with 171,355 unexposed children in the database. Prenatally exposed children were more likely than unexposed children to receive a diagnosis of a disruptive or internalising behavioural disorder (hazard ratio [HR], 1.31; 95% confidence interval [CI], 1.23–1.40). For secondary outcomes, increased hazards of disruptive (HR, 1.32; 95% CI, 1.24–1.41) and internalising (HR, 1.36; 95% CI, 1.20–1.53) behavioural disorders were identified, and also increased hazards of attention-deficit/hyperactivity disorder (HR, 1.32; 95% CI, 1.22–1.43), behavioural disorders (HR, 1.28; 95% CI, 1.14–1.42), developmental speech or language disorders (HR, 1.16; 95% CI, 1.05–1.28), and autism (HR, 1.31; 95% CI, 1.05–1.64). Prenatal exposure to general anaesthesia is associated with a 31% increased risk for a subsequent diagnosis of a disruptive or internalising behavioural disorder in children. Caution is advised when making any clinical decisions regarding care of pregnant women, as avoidance of necessary surgery during pregnancy can have detrimental effects on mothers and their children. [ABSTRACT FROM AUTHOR]

Background & Objective: Prenatal invasive procedures are used for diagnostic and therapeutic purposes. The present study aimed to assess the indications and early complications of invasive diagnostic tests. Materials & Methods: This retrospective descriptive study was conducted on 708 pregnant women who were referred for prenatal invasive tests in Tehran, Iran from May 2018 to April 2022. All medical records of the participants were reviewed and entered into the study. According to the implemented procedures, medical records were categorized into two chorionic villus sampling (CVS) and amniocentesis groups. The primary outcome was determining the frequent indications of invasive diagnostic tests and post-procedure complications. Results: Six hundred and sixty-eight medical records were included. Amniocentesis procedure was performed for 624 (93.7%) and 44 cases (6.3%) underwent CVS. The most frequent indication for invasive prenatal procedures was a history of abnormal findings related to the first trimester biomarkers followed by the abnormal findings of the second trimester biochemical markers, a history of high nuchal translucency>99th percentile, and abnormal biomarkers of sequential test. Comparing post-procedure complications, the results showed no significant difference between the CVS and amniocentesis groups (P=0.845). In the amniocentesis group, 2 cases had shown spontaneous abortion and 3 leakage of amniotic fluid, as well as two cases in the CVS group, had reported vaginal bleeding. Conclusion: Our results delineated that positive fetal aneuploidy screening tests together with increased nuchal translucency were the main indications of the invasive prenatal tests. Amniotic fluid leakage, vaginal bleeding, and spontaneous abortion should be considered as procedure-related complications. [ABSTRACT FROM AUTHOR]

Background: Contemporary diagnostic methods aimed at assessing neonatal outcomes predominantly rely on the medical history of pregnant women. Ideally, universal biomarkers indicating an increased risk of delivering infants in poor clinical condition, with a heightened likelihood of requiring hospitalization in a Neonatal Intensive Care Unit (NICU), would be beneficial for appropriately stratifying pregnant women into a high-risk category. Our study evaluated whether biochemical and ultrasonographical markers universally used in first-trimester screenings for non-heritable chromosomal aberrations could serve this purpose. Methods: This study encompassed 1164 patients who underwent first-trimester screening, including patient history, ultrasound examinations, and biochemical tests for pregnancy-associated plasma protein-A (PAPP-A) and the free beta-HCG subunit (fbHCG), from January 2019 to December 2021. The research concentrated on the correlation between these prenatal test results and neonatal outcomes, particularly Apgar scores, umbilical blood pH levels, and the necessity for NICU admission. Results: In our cohort, neonates scoring lower than 8 on the Apgar scale at birth exhibited lower concentrations of PAPP-A in the first trimester, both in raw and normalized values (PAPP-A MoM 0.93 vs. 1.027, p = 0.032). We also observed a higher pulsatility index in the venous duct in the first trimester in full-term neonates born with <8 points on the Apgar scale. Additionally, newborns born with an umbilical blood pH < 7.2 had lower normalized first-trimester PAPP-A concentrations (0.69 vs. 1.01 MoM, p = 0.04). We also noted that neonates requiring NICU hospitalization post-delivery had lower first-trimester bHCG concentrations (0.93 MoM vs. 1.11 MoM, p = 0.03). However, none of the correlations in our study translated into a robust prognostic ability for predicting dichotomous outcomes. All areas under the curve achieved a value < 0.7. Conclusions: Low concentrations of PAPP-A and free bHCG subunit in the first trimester may be associated with poorer clinical and biochemical conditions in neonates post-delivery. However, the relationship is weak and has limited predictive capability. Further research evaluating these relationships is necessary for the appropriate stratification of pregnant women into high-risk categories for neonatological complications. [ABSTRACT FROM AUTHOR]

Key Clinical Message: An encephalocele is a congenital malformation characterized by protrusion of the intracranial contents through a cranial defect. We report that a fetus of a pregnant mother who had two consecutive pregnancies with ultrasound‐detected encephalocele carried compound heterozygous variants in B3GALNT2 NM_152490.5:c.[1423C > T (p.Gln475Ter)]; [261‐2A > G] of maternal and paternal origins, respectively, as confirmed by exome sequencing followed by Sanger sequencing validation. The present case implies that mutations in B3GALNT2, a well‐known dystroglycanopathy causative gene, may result in a phenotype of neural tube defect, providing new insights into the clinical spectrum of B3GALNT2‐related disorders. Our study may contribute to prenatal screening/diagnosis and genetic counseling of congenital brain malformations. [ABSTRACT FROM AUTHOR]

More than 290 million people worldwide, and almost 2 million people in the United States, are infected with hepatitis B virus, which can lead to chronic hepatitis B, a vaccine-preventable communicable disease. The prevalence of chronic hepatitis B infection in pregnancy is estimated to be 0.7% to 0.9% in the United States, with >25,000 infants born annually at risk for chronic infection due to perinatal transmission. Given the burden of disease associated with chronic hepatitis B infection, recent national guidance has expanded both the indications for screening for hepatitis B infection and immunity and the indications for vaccination. The purpose of this document is to aid clinicians caring for pregnant patients in screening for hepatitis B infection and immunity status, discuss the perinatal risks of hepatitis B infection in pregnancy, determine whether treatment is indicated for maternal or perinatal indications, and recommend hepatitis B vaccination among susceptible patients. The following are the Society for Maternal-Fetal Medicine recommendations: (1) we recommend triple-panel testing (hepatitis B surface antigen screening, antibody to hepatitis B surface antigen, and total antibody to hepatitis B core antigen) at the initial prenatal visit if not previously documented or known to have been performed (GRADE 1C); (2) we recommend universal hepatitis B surface antigen screening alone at the initial prenatal care visit for all pregnancies where there has been a previously documented negative triple-panel test (GRADE 1B); (3) we recommend that individuals with unknown hepatitis B surface antigen screening status be tested on any presentation for care in pregnancy; we also recommend that those with clinical hepatitis or those with risk factors for acute hepatitis B infection be tested at the time of admission to a birthing facility when delivery is anticipated (GRADE 1B); (4) we do not recommend altering routine intrapartum care in individuals chronically infected with hepatitis B; administration of neonatal immunoprophylaxis is standard of care in these situations (GRADE 1B); (5) we do not recommend cesarean delivery for the sole indication of reducing perinatal hepatitis B virus transmission (GRADE 1B); (6) we recommend that individuals with HBV infection can breastfeed as long as the infant has received immunoprophylaxis at birth (GRADE 1C); (7) we suggest individuals with hepatitis B infection who desire invasive testing may have the procedure performed after an informed discussion on risks and benefits in the context of shared decision-making and in the context of how testing will affect clinical care (GRADE 2C); (8) in individuals with hepatitis viral loads >200,000 IU/mL (>5.3 log 10 IU/mL), we recommend antiretroviral therapy with tenofovir (tenofovir alafenamide at 25 mg daily or tenofovir disoproxil fumarate at 300 mg daily) in the third trimester (initiated at 28–32 weeks of gestation) as an adjunctive strategy to immunoprophylaxis to reduce perinatal transmission (GRADE 1B); (9) we recommend administering hepatitis B vaccine and hepatitis B immunoglobin within 12 hours of birth to all newborns of hepatitis B surface antigen–positive pregnant patients or those with unknown or undocumented hepatitis B surface antigen status, regardless of whether antiviral therapy has been given during the pregnancy to the pregnant patient (GRADE 1B); and (10) we recommend hepatitis B vaccination in pregnancy for all individuals without serologic evidence of immunity or documented history of vaccination (GRADE 1C). [ABSTRACT FROM AUTHOR]

Periodontal disease is very common in pregnant women. Paraprobiotics are a subset of probiotics. They can be defined as inactivated microbial cells providing health benefits to the host and are considered particularly safe. The aim of this study was to compare the periodontal health of pregnant women and puerperae after 6 months of home use of paraprobiotics. A total of 30 pregnant women were enrolled and divided into two groups: the test group, who had to use a paraprobiotic-based toothpaste (Biorepair Peribioma Pro, Coswell S.p.A., Funo di Argelato, BO, Italy) and mousse (Mousse Mouthwash Biorepair Peribioma, Coswell S.p.A.) twice a day, and the control group, who had to use only the paraprobiotic-based toothpaste. The time frames of the study were: 1 month (T1), 3 months (T2) and 6 months (T3), and data were collected during pregnancy and in the period immediately following delivery. The following indices were evaluated at T0, T1, T2 and T3: clinical attachment loss (CAL), probing pocket depth (PPD), bleeding on probing (BOP), plaque control record (PCR), modified marginal gingival index (mMGI), papillary marginal gingival index (PMGI) and recessions (R). All data were subjected to statistical analysis. PCR decreased significantly from T0 to T1 in the control group and from T0 to T2 and from T0 to T3 in the test group. BOP tended to decrease in both groups, but a significant reduction was observed only in the test group. CAL, PPD, PMGI and mMGI tended to decrease gradually in both groups without significant differences between or within groups. The combination of the paraprobiotic-based toothpaste and the paraprobiotic-based mousse significantly reduced BoP and plaque control over time, although there were no significant differences with the use of the paraprobiotic-based toothpaste alone. In addition, the combination of the two products promoted a trend towards the better stabilization of recessions. [ABSTRACT FROM AUTHOR]

Objective This study aimed to assess factors that influence patients' decisions in accepting prenatal diagnostic testing following genetic counseling for increased risk of fetal aneuploidy. Methods This is a retrospective cohort study of women at increased risk of fetal aneuploidy and genetic disorders who had genetic counseling from January 2012 to December 2016 at a single academic center. Demographics, indications for genetic counseling, and rates of diagnostic testing were collected and compared between those who accepted diagnostic testing and those who chose cell free DNA. The variables were analyzed using Chi-square, Fisher's exact test, and multiple logistic regression. Result Of the 2,373 pregnant women who underwent genetic counseling for increased risk of fetal aneuploidy and genetic disorders during the study period, 321 women had diagnostic testing (13.5%). Women at 35 years and older accepted diagnostic testing more than women younger than 35 years (20.7 vs. 11.5%, p < 0.001). Asian women accepted diagnostic testing at 27.7% more than white, non-Hispanic Black, and Hispanic women at 18.0, 12.1, and 11.7%, respectively, p = 0.002. Number of indications for genetic counseling influenced the likelihood of accepting diagnostic testing. Women with one indication had 11.5% acceptance of diagnostic testing, and with two and three indications, it was 17.0 and 29.2%, respectively. The commonest indication for diagnostic testing was cystic hygroma (risk ratio [RR] = 7.5, 95% confidence interval [CI]: 3.12–8.76 p < 0.001). The relative risk of diagnostic testing for fetuses with shortened long bones, femur and humerus, thickened nuchal fold, echogenic bowel, single umbilical artery, and increased nuchal translucency were 4.0, 3.3, 3.1, 2.7, and 2.7, respectively. Abnormal serum analyte alone was associated with less acceptance of diagnostic testing (RR = 0.8, 95% CI: 0.7–0.96, p = 0.017). Conclusion Age, race, ethnicity, and cumulative number of indications for genetic counseling influenced acceptance of diagnostic testing in at-risk women of fetal aneuploidy and genetic disorders. Key Points Genetic counseling. Fetal aneuploidy. Genetic disorders. Prenatal diagnostic testing. Prenatal diagnostic testing in women with increased risk of fetal aneuploidy and genetic disorders. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the local incidence of orofacial cleft (OFC) encountered in fetal morphology scan and prenatal diagnosis, genetic etiology of fetuses with or without other structural abnormalities, and their pregnancy outcomes. Design: Retrospective cohort study. Setting: Two maternal fetal medicine units, tertiary hospitals, Hong Kong. Participants: All pregnant women with antenatal diagnosis of fetal OFC between January 2016 and December 2020 (N = 66). Results: OFC has an incidence of 0.13% among pregnancies in Hong Kong and 28.8% (19/66) were syndromic cleft that exhibited other fetal structural anomalies. There were 55 cases (84.6%) who opted for invasive prenatal diagnostic testing. Genetic defects were identified in 25.8% (17/66) of this cohort, including 14 pathogenic variants. The detection rate in the syndromic cases is 68.4% (13/19) which was significantly higher than 8.5% (4/47) among non-syndromic cases. Aneuploidies would be the most common cause, accounting for 9.1% (6/66). Chromosomal microarray analysis (CMA) provided an incremental diagnostic yield of 6.1% compared to conventional karyotyping. A total of 29 live births including 3 cases of a variant of uncertain significance and 26 cases without genetic abnormalities detected have continued pregnancy to birth. There were 87.5% (21/24) without detectable pathogenic genetic abnormality reported good long-term outcomes. The chance of OFC fetuses having a good long-term outcome was significantly higher if no genomic variant was detected (P <.001). Conclusions: Invasive prenatal tests with CMA should be offered to pregnancies with OFC regardless of the type. It has provided incremental diagnostic yield over conventional karyotyping and helped in prenatal and genetic counseling. A negative result in non-syndromic OFC favors couples to keep the pregnancy. [ABSTRACT FROM AUTHOR]

We examined whether women with prenatal mood and anxiety disorders would exhibit differential pro- and anti-inflammatory marker trajectories during the prenatal and postpartum periods compared to women without these disorders. Approximately 179 pregnant women participated in a longitudinal study conducted in two urban areas. Blood samples for inflammatory markers were collected at six study visits. The Structured Clinical Interview for the DSM-IV (SCID) was administered to participants scoring above cutoffs on anxiety and depression. Pregnant women with SCID Axis I diagnoses of mood and/or anxiety disorders were compared to other participants on inflammatory markers. Multilevel modeling tested associations between SCID diagnoses and within-person interleukin (IL)6 and IL10 trajectories. Prenatal SCID diagnoses were associated with linear, quadratic and cubic change in IL6 from prenatal to postpartum timepoints. Women with a prenatal SCID diagnosis had steeper decreases and increases in IL6 during prenatal and postpartum periods. SCID diagnoses were associated with lower IL10 in mid-pregnancy to postpartum (b = −0.078, SE = 0.019; p =.015). Future studies would benefit from a larger sample size and a larger number of participants with SCID diagnoses. Future research should also examine whether different prenatal Axis 1 diagnoses are associated with different patterns of immune response in pregnancy. Pregnant women with prenatal mood and anxiety disorders had greater fluctuations in IL6 across prenatal and postpartum periods and lower IL10 through pregnancy and postpartum. They may have different proinflammatory states that remain after birth without a reciprocal anti-inflammatory response. • Prenatal mood and anxiety disorders are linked to postpartum inflammation. • Women with prenatal SCID diagnoses had greater fluctuations of inflammatory markers. • Lower anti-inflammatory markers in pregnancy associated with prenatal SCID diagnoses [ABSTRACT FROM AUTHOR]

Background: The Perinatal Center of the University Hospital Carl Gustav Carus Dresden has initiated the telemedical healthcare network "SAFE BIRTH" to coordinate and improve specialized care in non-metropolitan regions for pregnant women and newborns. The network incorporates five intervention bundles (IB): (1) Multi-professional, inter-disciplinary prenatal care plan; (2) Neonatal resuscitation; (3) Neonatal antibiotic stewardship; (4) Inter-facility transfer of premature and sick newborns; (5) Psycho-social support for parents. We evaluate if the network improves care close to home for pregnant women, premature and sick newborns. Methods: To evaluate the complex healthcare intervention "SAFE BIRTH" we will conduct a cluster-randomized controlled stepped-wedge trial in five prenatal medical outpatient offices and eight non-metropolitan hospitals in Saxony, Germany. The offices and hospitals will be randomly allocated to five respectively eight sequential steps over a 30-month period to implement the telemedical IB. We define one specific primary process outcome for each IB (for instance IB#1: "Proportion of patients with inclusion criterion IB#1 who have a prenatal care plan and psychosocial counseling within one week"). We estimated a separate multilevel logistic regression model for each primary process outcome using the intervention status as a regressor (control or intervention group). Across all IB, a total of 1,541 and 1,417 pregnant women or newborns need to be included in the intervention and control group, respectively, for a power above 80% for small to medium intervention effects for all five hypothesis tests. Additionally, we will assess job satisfaction and sense of safety of health professionals caring for newborns (questionnaire survey) and we will assess families' satisfaction, resilience, quality of life and depressive, anxiety and stress symptoms (questionnaire surveys). We will also evaluate the cost-effectiveness of "SAFE BIRTH" (statutory health insurance routine data, process data) and barriers to its implementation (semi-structured interviews). We use multilevel regression models adjusting for relevant confounders (e.g. socioeconomic status, age, place of residence), as well as descriptive analyses and qualitative content analyses. Discussion: If the telemedical healthcare network "SAFE BIRTH" proves to be effective and cost-efficient, strategies for its translation into routine care should be developed. Trial registration: German clinical trials register. DRKS-ID: DRKS00031482. [ABSTRACT FROM AUTHOR]

To investigate the incidence of pathogenic recurrent CNVs in fetuses with different referral indications and review the intrauterine phenotypic features of each CNV. A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogenic recurrent CNVs were further studied. The highest incidence of pathogenic recurrent CNVs was 2.25 % in fetal ultrasound anomalies (FUA) group. Moreover, regardless of other indications, pregnant women with advanced maternal age have a lower incidence compared with whom less than 35 years old (p<0.05). In total 1.17 % (83/7,078) samples carried pathogenic recurrent CNVs: 20 cases with 22q11.2 recurrent region (12 microdeletion and eight microduplication), 11 with 1q21.1 (five microdeletion and six microduplication) and 16p13.11 (four microdeletion and seven microduplication), 10 with 15q11.2 recurrent microdeletion, seven with Xp22.31 recurrent microdeletion and 16p11.2 (three microdeletion and four microduplication), four with 7q11.23 (two microdeletion and two microduplication), three with 17p11.2 (three microdeletion), 17p12 (two microdeletion and one microduplication) and 17q12 (two microdeletion and one microduplication). The rest ones were rare in this study. Pathogenic recurrent CNVs are more likely to be identified in FUA group. Pregnant women with advanced maternal age have a lower incidence of pathogenic recurrent CNVs. The profile of pathogenic recurrent CNVs between prenatal and postnatal is different, especially in 22q11.2, 1q21.1, 15q13.3 recurrent region and 15q11.2 deletion. [ABSTRACT FROM AUTHOR]

Objectives: To develop and validate MRI-based scoring models for predicting placenta accreta spectrum (PAS) invasiveness. Materials and methods: This retrospective study comprised a derivation cohort and a validation cohort. The derivation cohort came from a systematic review of published studies evaluating the diagnostic performance of MRI signs for PAS and/or placenta percreta in high-risk women. The significant signs were identified and used to develop prediction models for PAS and placenta percreta. Between 2016 and 2021, consecutive high-risk pregnant women for PAS who underwent placental MRI constituted the validation cohort. Two radiologists independently evaluated the MRI signs. The reference standard was intraoperative and pathologic findings. The predictive ability of MRI-based models was evaluated using the area under the curve (AUC). Results: The derivation cohort included 26 studies involving 2568 women and the validation cohort consisted of 294 women with PAS diagnosed in 258 women (88%). Quantitative meta-analysis revealed that T2-dark bands, placental/uterine bulge, loss of T2 hypointense interface, bladder wall interruption, placental heterogeneity, and abnormal intraplacental vascularity were associated with both PAS and placenta percreta, and myometrial thinning and focal exophytic mass were exclusively associated with PAS. The PAS model was validated with an AUC of 0.90 (95% CI: 0.86, 0.93) for predicting PAS and 0.85 (95% CI: 0.79, 0.90) for adverse peripartum outcome; the placenta percreta model showed an AUC of 0.92 (95% CI: 0.86, 0.98) for predicting placenta percreta. Conclusion: MRI-based scoring models established based on quantitative meta-analysis can accurately predict PAS, placenta percreta, and adverse peripartum outcome. Clinical relevance statement: These proposed MRI-based scoring models could help accurately predict PAS invasiveness and provide evidence-based risk stratification in the management of high-risk pregnant women for PAS. Key Points: • Accurately identifying placenta accreta spectrum (PAS) and assessing its invasiveness depending solely on individual MRI signs remained challenging. • MRI-based scoring models, established through quantitative meta-analysis of multiple MRI signs, offered the potential to predict PAS invasiveness in high-risk pregnant women. • These MRI-based models allowed for evidence-based risk stratification in the management of pregnancies suspected of having PAS. [ABSTRACT FROM AUTHOR]

Although several Latin American countries have 70% antenatal care coverage, the proportion of human immunodeficiency virus (HIV) testing of Peruvian pregnant women and the socioeconomic inequalities of this preventive measure are unknown. This study aimed to determine socioeconomic inequalities and quantify the contribution of contextual and compositional factors on HIV testing during prenatal care in Peru. A cross-sectional study of the 2021 Demographic and Family Health Survey data was conducted. The outcome variable was HIV testing of pregnant women during prenatal care. An analysis of inequalities was performed including the determination of concentration curves and a decomposition analysis of concentration indices. Of a total of 17521 women aged 15 to 49 years, 91.4% had been tested for HIV during prenatal care. The concentration curves showed that prenatal HIV testing was concentrated among richer women, while the decomposition analysis determined that the main contributors to inequality were having a higher education, residing in an urban area, and in the highlands, belonging to the wealthy quintile, and being exposed to television and newspapers. Strategies focused on improving access, promotion and restructuring of prevention of mother-to-child transmission measures should be prioritized. [ABSTRACT FROM AUTHOR]

"Unexpected: Parenting, prenatal testing, and Down syndrome" is a deeply personal book by Alison Peipmeier that explores her experiences with prenatal screening, prenatal diagnostics, and parenting. The book delves into the complexities of disability, ableism, and the frictions between disability rights and reproductive rights movements. Peipmeier argues that it is not prenatal testing itself that should be questioned, but the assumptions that accompany it. The book also examines the impacts of shared or denied commensality and the problems and possibilities of memoirs by parents of children with disabilities. Peipmeier's colleagues, Rachel Adams and George Estreich, completed the book after her passing, offering a rich material for contemplating the nature of writing, voice, and authorship. [Extracted from the article]

Background: To evaluate the clinical significance of noninvasive prenatal testing (NIPT) for detecting fetal sex chromosome aneuploidies (SCAs) in Korean pregnant women. Methods: We retrospectively analyzed NIPT data from 9,176 women with singleton pregnancies referred to the CHA Biotech genome diagnostics center. Cell-free fetal DNA (cffDNA) was extracted from maternal peripheral blood, and high-throughput massively parallel sequencing was conducted. Subsequently, the positive NIPT results for SCA were validated via karyotype and chromosomal microarray analyses. Results: Overall, 46 cases were SCA positive after NIPT, including 20, 12, 8, and 6 for Turner, triple X, Klinefelter, and Jacob syndromes, respectively. Among 37 women with invasive prenatal diagnosis, 19 had true positive NIPT results. The overall positive predictive value (PPV) of NIPT for detecting SCAs was 51.35%. The PPV was 18.75% for Turner, 88.89% for triple X, 71.43% for Klinefelter, and 60.00% for Jacob's syndromes. NIPT accuracy for detecting sex chromosome trisomies was higher than that for sex chromosome monosomy (P = 0.002). No significant correlation was observed between fetal SCA incidence and maternal age (P = 0.914), except for the borderline significance of Jacob's syndrome (P = 0.048). No significant differences were observed when comparing NIPT and karyotyping validation for fetal SCA according to pregnancy characteristics. Conclusion: Our data suggest that NIPT can reliably screen for SCAs, and it performed better in predicting sex chromosome trisomies compared with monosomy X. No correlation was observed between maternal age and fetal SCA incidence, and no association was observed between different pregnancy characteristics. The accuracy of these findings requires improvements; however, our study provides an important reference for clinical genetic counseling and further management. Larger scale studies, considering confounding factors, are required for accurate evaluation. [ABSTRACT FROM AUTHOR]

Increased sequencing depth can improve the detection rate of noninvasive prenatal testing (NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to the technical limitations of NIPT, false-positives and false-negatives are inevitable. False-positives for aneuploidy and CNVs have been widely reported, but few missed cases have been reported. In this study, we report 3 patients missed by NIPT, which were still missed after increasing the sequencing depth. To verify the detection efficiency of the platform, the results of NIPT in 32,796 patients treated in Yulin Women and Children Health Care Hospital from 2020 to 2022 were retrospectively analyzed. Data on false-negative cases found by postnatal follow-up or amniocentesis were collected, and the sequencing data, pregnancy examination data, and postnatal follow-up results of these missed patients were summarized. Five patients missed by NIPT were found, and they were missed again by retesting or increasing the sequencing depth. Except for hypospadias found in 1 patient, ultrasonography of the other 4 patients showed no obvious abnormalities during the whole pregnancy. Our results suggest that pregnant women should be fully informed of the benefits and limitations of NIPT before undergoing the examination to avoid unnecessary medical disputes. [ABSTRACT FROM AUTHOR]

The phenotypes of Xp22.33 or Yp11.32 microdeletions comprising the short-stature homeobox (SHOX) gene have been extensively described in adults and children. Herein, the prenatal ultrasound phenotype and pregnancy outcomes of fetuses with Xp22.33/Yp11.32 microdeletions were analyzed to improve our understanding, diagnosis, and monitoring of this genetic condition in the fetal stage. A total of 9,100 pregnant women referred to tertiary units for prenatal diagnosis were evaluated by chromosomal microarray analysis(CMA). Seven (0.08 %) fetuses had Xp22.33/Yp11.32 microdeletions, ranging from 243 kb to 1.1 Mb, that comprised SHOX. The ultrasonic phenotypes differed among these fetuses, with three fetuses presenting abnormal bone development, one had labial-palatal deformity and strawberry head, two had an abnormal ultrasonic soft marker, and one had no abnormalities. After genetic counseling, only one couple underwent pedigree assessment, which confirmed the paternal origin of the microdeletion. This infant presented delayed speech development, whereas other three infants showed a typical postnatal development. In three cases, the parents chose to terminate the pregnancy. The ultrasonic phenotype of fetuses with Xp22.33/Yp11.32 microdeletions resulting in SHOX heterozygosity loss is variable. Prenatal CMA can quickly and effectively diagnose Xp22.33/Yp11.32 microdeletions and SHOX loss, which may help prenatal counseling. [ABSTRACT FROM AUTHOR]

Background: Pulmonary hypoplasia is the primary cause of perinatal death in lethal skeletal dysplasias. The antenatal ultrasound correlates for lethality are indirect, measuring the thorax (thoracic circumference, TC) or femur compared to the abdomen (TC/AC, FL/AC). A single study has correlated lethality with the observed-to-expected total lung volume (O/E-TFLV) on fetal MRI in 23 patients. Objective: Our aim was to define a cutoff value to predict lethality more specifically using MRI-derived O/E-TFLV. Materials and methods: Two large fetal center databases were searched for fetuses with skeletal dysplasia and MRI; O/E-TFLV was calculated. Ultrasound measures were included when available. Each was evaluated as a continuous variable against lethality (stillbirth or death in the first month of life). Logistic regression and receiver operating characteristic (ROC) curve analyses evaluated the prediction ability. AUC, sensitivity, and specificity were calculated. P < 0.05 was considered statistically significant. Results: A total of 80 fetuses met inclusion criteria. O/E-TFLV < 0.49 was a significant risk factor in predicting lethality, with sensitivity and specificity of 0.63 and 0.93, respectively, and an AUC of 0.81 (P < 0.001). FL/AC < 0.129 was also a strong variable with sensitivity, specificity, and AUC of 0.73, 0.88, and 0.78, respectively (P < 0.001). TC/AC and TC percentile were not significant risk factors for lethality. An O/E-TFLV of < 0.38 defines a specificity for lethality at 1.00. Conclusion: MRI-derived O/E-TFLV and US-derived FL/AC are significant predictors of lethality in fetuses with skeletal dysplasia. When prognosis is uncertain after ultrasound, calculation of MRI-derived O/E-TFLV may provide additional useful information for prognosis and delivery planning. [ABSTRACT FROM AUTHOR]

Background: To explore reasons for the failure of noninvasive prenatal test (NIPT) for cell‐free fetal DNA (cffDNA) in maternal peripheral blood, and discuss appropriate treatment schemes after the failure of the test. Methods: Altogether 41,136 pregnant women participated in NIPT. Blood samples were taken again from pregnant women who failed the first blood collection upon their informed consent. Prenatal genetic counseling or prenatal diagnosis was recommended for pregnant women with final NIPT failure. Results: The first failure rate of NIPT was 0.737% (303/41136), and the reason for the failure was the low ratio of cffDNA in 135 (44.6%) of the 303 pregnant women. After the second or third blood sampling, the final failure rate was 0.182% (75/41136). The low ratio of cffDNA was the main reason for test failure in 42 (56.0%) of the 75 pregnant women who finally failed NIPT, among whom 44 (58.7%) had underlying diseases, including 21 (47.7%) with more than two coexisting underlying diseases. Only 27 (36.0%) of the 75 pregnant women with NIPT failure underwent interventional prenatal diagnosis. Conclusions: The main reason for NIPT failure was the low ratio of cffDNA. Postponing the gestational weeks of blood collection may improve the success rate. Resampling and retesting upon informed consent in pregnant women who failed the first test could improve the success rate. For pregnant women who finally failed NIPT, it is suggested strengthening the genetic counseling, prenatal examination, and ultrasound evaluation, and carry out interventional prenatal diagnosis if necessary. [ABSTRACT FROM AUTHOR]

Background: With the improvement of basic maternal and child health care services, the deaths due to malnutrition and infections are on a descending trend and due to westernization and lifestyle modifications, perinatal deaths due to anomalies are in ascending trend. Aim & Objectives: The purpose of this study was to estimate the antenatal proportion of congenital anomalies, types, pattern of anomalies and factors associated with anomalies in Tertiary Care Centre, South Gujarat. Settings and Design: Cross-sectional study in Department of Fetal Medicine of New Civil Hospital, Surat. Methods and Material: Sample size was 435. First 10 consecutive high-risk ANC patients, who were referred to Fetal Medicine department from Obstetrics and Gynecology department per day were selected. Data was collected during September 2021 to February 2022. Statistical analysis used: Frequencies, proportions and tests of significance was applied for testing the association of sociodemographic variables, clinical variables etc on presence or absence of congenital anomalies. Results: Proportion of different types of congenital anomalies in high risk pregnant mother was 17.2%. There was significant association between presence of congenital anomalies with history of irregular menstruation (p value: 0.001, OR: 5.19, [CI: 1.76-15.27]) and inadequate amniotic fluid (p value: 0.00, OR: 14.5[CI: 7.23-29.06]). Among total detected anomalies in Ultrasonography scanning, most common anomalies were Cardio-vascular system anomalies (36.4%) and Central Nervous System anomalies (24%). Conclusions: Congenital anomalies were present in about 17 % of high risk antenatal mothers. [ABSTRACT FROM AUTHOR]

Aim: This study aimed to evaluate the pregnancy outcomes of patients who applied to our clinic between the 11th and 14th weeks of pregnancy and whose nuchal translucency (NT) measurement was ≥1.5 multiples of the median (MoM). Material and Methods: The study included 85 patients whose NT measurement was determined ≥1.5 MoM and pregnancy results were available. Demographic characteristics of the patients, prenatal invasive diagnostic test results, fetal anomaly screening, fetal echocardiography (ECHO) results, and neonatal and obstetric results were evaluated. Results: Abnormal karyotype was detected in 10.6% (n=9) of the patients. Trisomy 21 was the most common chromosomal anomaly. Fetal structural anomaly was detected in 29.4% (n=25) of the patients. A structural fetal anomaly was detected in 21% (n=13) of fetuses with normal karyotypes and 66.7% (n=6) of fetuses with abnormal karyotypes. Cardiac anomalies were found to be the most common anomalies with 9.7% (n=6) in patients with normal karyotype. NT and NT MoM values in patients with fetal structural (both p=0.001) or chromosomal anomalies (p=0.011, and p=0.019, respectively) were found significantly higher than those without. NT and NT MoM values in patients whose pregnancies resulted in fetal loss were found significantly higher than in patients who had a live birth (both p=0.001). Conclusion: Increasing NT or NT MoM values indicate an increase in the risk of chromosomal anomalies, structural anomalies, and poor pregnancy outcomes in the fetus. Fetal anomaly screening and fetal ECHO should be recommended in patients with increased NT, even if a normal karyotype is detected. [ABSTRACT FROM AUTHOR]

This study aimed to assess the utility of chromosomal microarray analysis (CMA) and noninvasive prenatal testing (NIPT) in detecting clinically significant chromosomal abnormalities among fetuses presenting ultrasonic soft markers (USMs). Methods: A retrospective observational study, spanning from January 1, 2019, to September 30, 2022, enrolled 539 singleton pregnant women with fetal USMs at our center. Of these, 418 cases (77.6%) underwent NIPT, while 121 cases (22.4%) opted for invasive prenatal diagnosis post-appropriate genetic counseling. Cases with high-risk NIPT results proceeded to invasive prenatal diagnosis, where conventional karyotyping and CMA were concurrently performed. Further stratification was done based on the number of USMs, classifying cases into single-USM and multiple-USM groups. Results: Of the 24 cases (4.5%) exhibiting abnormal findings, 17 presented numerical chromosomal abnormalities, 2 featured clinically significant copy number variations (CNVs), 3 showed variants of unknown significance (VOUS), 1 displayed LOH, and 1 exhibited chromosome nine inversion. Notably, 18 cases (75%) theoretically detectable by karyotyping (eg, sizes above 10Mb) and 16 cases (66.7%) detectable by NIPT for five common aneuploidies were identified. Six submicroscopic findings (25%) were exclusively detectable by CMA. The predominant clinically relevant aberrations were observed in the thickened nuchal-translucency (TNT) group (9/35, 25.7%), followed by the multiple soft markers group (3/32, 9.3%). In the NIPT group, the false positive rate was 1.22%, and the false negative rate was 0%. Conclusion: The prevalence of chromosome aneuploidy exceeded that of submicroscopic chromosomal imbalance in pregnant women with fetal USMs. NIPT demonstrated efficacy, particularly for soft markers like echogenic intracardiac focus. However, for those with TNT and multiple soft markers, invasive prenatal diagnosis, including CMA testing, is recommended as the primary investigative approach. [ABSTRACT FROM AUTHOR]

Aim: We aimed to evaluate the effectiveness and usability of the uterocervical angle, which we examined ultrasonographically before misoprostol treatment, which we used in first-trimester pregnancy terminations, and its relationship with the abortion time. Material and Method: This prospective study includes 207 pregnant women diagnosed with an ex-fetus in utero hospitalized for medical termination in a single center. These patients were divided into two groups patients whose treatment was completed in the first cycle and who needed additional cycles. The characteristics of all pregnant women, abortion times, and misoprostol doses used were compared with uterocervical angle and cervical length and analyzed between groups. Results: The mean age of the patients in the entire study group was 30.1±6.3, the median uterocervical angle was 112 degrees, and the cervical length was 36 mm. Increasing cesarean number and increasing uterocervical angle degree were positively correlated with increasing abortion time. The number of cesarean sections and the degree of uterocervical angle differ significantly between the group whose treatment was completed in the first cycle and the groups that needed additional cycles. In the treatment groups with elevated uterocervical angle degrees, the first cycle was higher than the successful group. Additional dose and cycle requirements arise if the uterocervical angle is >110 degrees. Conclusion: Evaluation of the uterocervical angle in first-trimester medical terminations may guide the clinician in the early completion of treatment. With this evaluation before medical treatment, the duration of hospitalization can be shortened, and the need for surgical intervention for patients can be reduced. [ABSTRACT FROM AUTHOR]

Background/Aim: There is insufficient information about how long fetal well-being will last after a negative oxytocin challenge test (OCT) and the factors affecting this process. We aim to evaluate maternal and perinatal outcomes in high-risk patients who had negative OCTs and to investigate the effects of methods of induction on the development of fetal distress. Methods: The study was designed as a retrospective cohort study. Data of patients who were hospitalized in the perinatal intensive care unit due to high-risk pregnancies between January 2016 and December 2016 were reviewed retrospectively. The patient's gestational age, gravidity, parity, and body mass index (BMI), risk factors leading to the OCT, labor induction methods used following a negative OCT, time from negative OCT to delivery, mode of delivery, and indications for cesarean section were recorded. In addition, data regarding fetal sex, birth weight, birth height, labor complications, Apgar scores at minutes 1 and 5, admission to the neonatal intensive care unit (NICU), indications for NICU admission, length of NICU stay, and stillbirth were also recorded. Results: OCT was performed on 551 patients and was negative in 447 patients. Among patients with a negative OCT, labor induction was preferred in 427 (95.5%) patients. When fetal distress development was assessed according to the induction method used following a negative OCT, fetal distress developed in 9.1% of 427 patients who underwent labor induction. Conclusion: When outcomes were considered in pregnant women with a negative OCT, it was observed that there were no fetal deaths and a limited number of newborns with low Apgar scores. Further randomized studies are needed to draw definitive conclusions. [ABSTRACT FROM AUTHOR]

Aim: To investigate the detectability of noninvasive prenatal screening (NIPS) with conventional sequencing depth to detect fetal copy number variants. Methods: We performed a retrospective study in a total of 19 144 pregnant women. Their cell‐free plasma DNA were assessed for trisomy 21, trisomy 18, trisomy 13, sex chromosome aneuploidies, and genome‐wide copy number variants by NIPS at conventional sequencing depth. Results: Three hundred seventy‐four cases (2.0%, 374/19 144) with abnormal results were detected, which including 84 cases (0.4%, 84/19 144) with high risk of trisomy 21, 18, and 13, 90 cases (0.5%, 90/19 144) with high risk of sex chromosome abnormalities (SCA), and 44 cases (0.2%, 44/19 144) with high risk of other chromosome aneuploidies. One hundred fifty‐six cases (0.8%, 156/19 144) with high risk of copy number variations (CNVs) were also detected. In following prenatal diagnosis, composite positive predictive value (PPV) of trisomy 21, 18, and 13 was 69.6% (48/69). The PPV of SCAs was 37.3% (19/51). And the PPVs for CNVs was detected as 51.0% (<5 Mb), 71.4% (5 Mb ≤ CNV ≤10 Mb), 56.5% (>10 Mb). Finally, a follow‐up about the pregnancy outcomes were conducted for all available cases. Conclusions: NIPS yielded high PPVs for trisomy 21, 18, and 13 aneuploidies and moderate PPVs for SCAs and CNVs. The screening effectiveness was closely related to the size of CNV fragments. Larger CNVs, especially larger than 5 Mb, could be detected more accurately by NIPS in our analytic technique. Meanwhile, diagnostic confirmation by microarray analysis was highly recommended. [ABSTRACT FROM AUTHOR]

Context: Associations between adverse maternal complications and fetal outcomes are known entity in thyroid disorders during pregnancy. Thus, prompt identification of thyroid disorders and timely initiation of treatment is essential. Universal screening and early treatment of pregnant women for thyroid disorder should be considered especially in a resource-limited country like India with a high prevalence of undiagnosed thyroid disorders and adverse feto-maternal outcomes. Aims: Early treatment will prevent feto-maternal complications in thyroid disorders in pregnant females visiting outpatient department in tertiary care hospital in rural settings. Settings and Design: This study was conducted in a tertiary care rural-based medical college with participation from departments of Obstetrics and Gynaecology, Medicine, and ENT. Methods and Material: Expectant mothers in first trimester who had urine pregnancy test positive in outpatient clinic were included after a written informed consent. Detailed history and examination was done. TSH was done if abnormal—FT3 and FT4 were done. All thyroid disorders were treated according to American Thyroid Association (ATA) 2017 guideline. All pregnancies were followed up for maternal complications and fetal outcomes. Statistical Analysis Used: Data from the performa were entered in Office Excel and analysis was performed using STATA (14.2). Descriptive statistics (mean [standard deviation], Frequency [%], etc.) were used to depict profile of study participants, prevalence of thyroid dysfunction, and outcome measures. Chi-square test was employed to assess the association between thyroid dysfunction and various maternal and fetal outcomes. A P value less than. 05 was considered statistically significant. Results: Of 350 pregnant females, 83 (23.5%) pregnant females had thyroid disorder. Of which, 33 (9.4%) had subclinical hypothyroidism, 37 (10.5%) had overt hypothyroidism, 11 (3.1%) had subclinical hyperthyroidism, and two (0.5%) had hyperthyroidism. The prevalence of hypothyroidism in pregnancy increases with increasing age (P value. 001) and not associated with parity, abortion, and consumption of iodized salt. Total patients with feto-maternal outcome follow-up were 241. Pre-eclampsia (P value. 004) was a significant complication in hypothyroid mothers. There was no significant difference in the rate of cesarean section and preterm delivery in hypothyroid and euthyroid mothers. Neonatal outcomes showed more trends of abortion, fetal demise, and IUFD in the hypothyroid group, although not statistically significant. (P value. 07). Conclusions: Due to the high prevalence of thyroid disorders during pregnancy, universal screening of thyroid disorders should be done in early pregnancy instead of high-risk screening. Early detection and early treatment in the first 10 weeks of pregnancy help to prevent maternal and fetal complications of thyroid disorders in pregnancy. Pre-eclampsia is to be monitored in treated pregnant females with hypothyroidism. [ABSTRACT FROM AUTHOR]

Objective: Ultrasonography (US) is an acceptable tool to diagnose the placenta accreta spectrum (PAS) among pregnant women. However, the lack of a robust criteria for diagnosis and predicting the severity of the consequences facing pregnant women requires identification of novel biomarkers. Material and Methods: This prospective, cross-sectional study was performed on pregnant women with a probable diagnosis of PAS. Their demographic information, medical and surgical history, blood loss severity (severe ≥2500 mL) following hysterectomy, and the histopathology after the surgery were collected. In addition, the Doppler imaging of both uterine arteries, including the pulsatility index, resistance index, peak systolic velocity (PSV), the PSV of the posterior part of the bladder, cervix, the largest lacuna, and the posterior lacuna of the bladder were calculated by Doppler US. Data were analyzed to investigate the relationship between Doppler markers and the severity of PAS in terms of bleeding, hysterectomy, and histopathology. Results: Fifty-one women were enrolled with a mean age of 35.4±4.11 years and 17 (33.3%) had severe bleeding. There were significant differences between median (range) bladder PSV [57 (34-90) vs. 33 (20-64); p<0.001], cervix PSV [26 (0-63) vs. 18 (0-76); p=0.04] and left uterine artery [89 (81-135) vs. 68 (61-113); p=0.045] for women with and without severe bleeding, respectively. Thirty-four (66.66%) had hysterectomy. Comparison of bladder PSV, cervix PSV, and left uterine PSV for women with and without hysterectomy were 46 (20-90) vs. 39.5 (33-46) (p=0.005), 20 (0-76) vs. 20 (14-26) (p=0.013) and 68 (61-135) vs. 82 (63-101) (p=0.003), respectively. Conclusion: Bladder PSV, cervix PSV, and uterine PSV were significantly higher in pregnant women with PAS, and they may be useful diagnostic and prognostic markers. [ABSTRACT FROM AUTHOR]

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Background: Karyotype analysis and fluorescence in situ hybridization (FISH) are commonly used for prenatal diagnosis, however they have many disadvantages. Chromosome microarray analysis (CMA) has the potential to overcome these disadvantages. This study aimed to evaluate the clinical value of CMA in the diagnosis of fetal chromosomal anomalies in southwest of China. Methods: A total of 3336 samples of amniotic fluid or umbilical cord blood from pregnant women with high-risk indicators at our center in southwest of China from June 2018 to January 2023 were included in the retrospective analysis. 3222 cases tested by CMA and karyotyping, 114 cases only tested by CMA. Results: 3336 samples divided into 2911 cases with single and 425 cases with multiple high-risk indicators. The aneuploidy and pathogenic/likely pathogenic copy number variations (CNVs) of 2911 cases with single high-risk indicator were 4.43% (129/2911) and 2.44% (71/2911) respectively; the aneuploidy and pathogenic/likely pathogenic CNVs of 425 cases with multiple high-risk indicators were 6.82% (29/425) and 2.12% (9/425) respectively. The rate of aneuploidy increased significantly with pregnancy age or NT value. The detection rate of aneuploidy on cases with AMA combined NT ≥ 2.5 mm was significantly higher than that in cases only with AMA (p < 0.001); the detection rate of aneuploidy and pathogenic/likely pathogenic CNVs in cases with AMA combined NIPT high-risk were higher than that in cases only with AMA (p < 0.001, p < 0.05). Conclusions: The combined application of CMA and karyotyping were recommended in prenatal diagnosis for providing a scientific and accurate genetic diagnosis and improving the quality of prenatal genetic counseling. [ABSTRACT FROM AUTHOR]

Background: Noninvasive fetal RHD genotyping has been provided to nonimmunized RhD‐negative pregnant women to guide anti‐D prophylaxis. Among the Chinese, more than 30% of the RhD‐negative phenotype is associated with variant RHD alleles, which would limit the accuracy of fetal RHD status prediction; thus, more targeting and proper programs need to be developed. Study Design and Methods: Fluorescence quantitative polymerase chain reaction PCR (qPCR) or Sanger sequencing on all RHD exons was used to detect maternal RHD genotypes. For pregnant women with RHD*01N.01 or RHD*01N.03 alleles, the presence of RHD exons 5 and 10 in cell‐free DNA was determined by qPCR. For pregnant women with the RHD(1227G>A) allele, high‐throughput sequencing on exon 9 of the RHD gene and RHCE gene was used to predict fetal RhD phenotype. Results: Among 65 cases of Chinese pregnant women with the serologic RhD‐negative phenotype, three major genotypes were identified: RHD*01N.01/RHD*01N.01 (61.5%), RHD*01N.01/RHD(1227G>A) or RHD*01N.03/RHD(1227G>A) (20%), and RHD*01N.01/RHD*01N.03 (13.8%), along with three cases of minor genotypes (4.6%). For 43 pregnant women with the RHD*01N.01 or RHD*01N.03 alleles, qPCR on maternal cell‐free DNA yielded a 98.5% (42/43) accuracy rate and 100% successful prediction rate. High‐throughput sequencing was successfully used to predict fetal RhD phenotypes for 13 pregnant women with RHD(1227G>A). Conclusion: On the basis of maternal RHD genotyping, fetal genotyping through qPCR or high‐throughput sequencing can improve the accuracy and success rate of prenatal fetal RhD phenotype prediction among Chinese pregnant women. It plays a potential role in guiding anti‐D prophylaxis and pregnancy management in Chinese pregnant women. [ABSTRACT FROM AUTHOR]