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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]

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]

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]

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]

• 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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

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: 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]

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]

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]

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]

Purpose: The application value of ultrasound soft indicators in prenatal diagnosis was evaluated by copy number variation sequencing (CNV-seq).Methods: The authors conducted a retrospective analysis of 422 pregnant women who underwent CNV-seq testing at Luoyang Maternal and Child Health Hospital between January 2020 and November 2021. The women had presented with abnormal ultrasound soft markers; those identified as high-risk through non-invasive prenatal screening were excluded.Results: A total of 43 abnormal cases were detected in 422 pregnant women, including 24 aneuploidy (including chimerism) and 19 pathogenic or likely pathogenic copy number variations (CNVs). Based on the characteristics of ultrasound soft indicators, pregnant women were divided into five groups: isolated nuchal translucency (NT) group, combined NT group, isolated soft indicators group, combined soft indicators group and combined non-NT group. The abnormality detection rates in the five groups were 12.38% (13/105), 36.11% (13/36), 3.74% (4/103), 3.08% (2/63) and 10.09% (11/109), respectively. Statistical tests showed that the detection rate in the NT thickening combined with other abnormalities group was significantly higher than the other four groups, while there was no statistical difference in the detection rate among the other four groups.Conclusion: When NT thickening is combined with other abnormalities, it is more likely to indicate chromosome abnormalities or CNVs, so it should be regarded seriously upon finding, and pregnant women should be referred for prenatal diagnosis according to the examination results. In addition, NT thickening is an important indicator for prenatal diagnosis and should be considered regardless of whether it occurs independently. The authors recommend CNV-seq for prenatal diagnosis to prevent missing small fragments of CNVs during traditional karyotyping. [ABSTRACT FROM AUTHOR]

Objective The aim of this work was to compare different local cutoff values (LCV) and inline cutoff values (ICV) in pregnant women in the second trimester at high risk for carrying fetuses with trisomy 21. Methods This retrospective cohort study analyzed prenatal screening outcomes in pregnant women (n = 311,561). The receiver operating characteristic curve was used to evaluate the diagnostic significance of the trisomy 21 risk value, alpha-fetoprotein, and free beta human chorionic gonadotropin multiple of the median for predicting trisomy 21 risk. The cutoff value corresponding to the maximal Youden index was taken as the LCV. The screening efficiency of both cutoff values was compared. Results The LCV cutoff value was lower than the ICV cutoff value (1/643 vs 1/270). The sensitivity increased by 19.80%, the positive predictive value decreased by 0.20%, and the false-positive rate increased by 6.50%. Conclusion The LCV should be used to determine trisomy 21 risk, which can increase the detection rate of trisomy 21 in the second trimester. [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]

This paper looks at three televised examples of pregnant women grappling with prenatal testing. In these stories, prenatal testing for disability is increasingly being framed as a requirement of responsible motherhood, and termination of pregnancies with diagnoses of disability shown as the logical choice. Disability is frequently depicted to be an anxiety-inducing or disappointing outcome. Previous research has shown televised depictions of pregnancy to be influential; the narratives illustrated here reinforce the discourse that disability is a burden for potential parents and entrench the view that fetal value is defined by "health," which is constructed in binary opposition with disability. Ultimately, these media depictions can have far-reaching effects in terms of pregnant people's feelings about the need to use prenatal testing, their diagnoses, and their decisions regarding both testing and termination. [ABSTRACT FROM AUTHOR]

Prenatal diagnosis of congenital heart disease (CHD) often leads to anxiety, depression, and traumatic stress in expectant mothers, with long-term implications for the child and family. However, psychosocial intervention is rarely incorporated into prenatal care. HEARTPrep is a virtually delivered psychosocial intervention aimed at reducing distress and social isolation and increasing parenting self-efficacy and hope for mothers expecting a baby with CHD to promote long-term child/family well-being. This study evaluated the feasibility and acceptability of HEARTPrep. Participants were mothers receiving cardiology care for a fetal CHD diagnosis. Partners could participate with the mother. HEARTPrep was delivered through a mobile app and telehealth. Feasibility was assessed through enrollment/retention rates. Acceptability was assessed through 20 Likert-scale and five open-ended questions. Of 39 recruited mothers, 35 (90%) enrolled. Half of partners (48%) also participated. Twenty-seven of 35 enrolled mothers (77%) completed HEARTPrep. On a scale from 0 (Not at All) to 4 (Very), mean item acceptability scores ranged from 3.5 to 3.9. Mothers reported HEARTPrep helped them feel less distressed (mean: 3.74), less alone (3.84), more prepared (3.89), and more hopeful (3.84). Opportunities to process emotions, develop coping skills, learn with their partner, navigate relationships, understand they are not alone, connect with peer support, access resources, and prepare for stressors were described as helpful. HEARTPrep is feasible and acceptable for mothers expecting a baby with CHD. Future research will evaluate its efficacy in preventing/reducing maternal mental health problems and improving postnatal clinical outcomes. [ABSTRACT FROM AUTHOR]

Aims: To map the pathway and service provision for pregnant women whose newborns require admission into the surgical neonatal intensive care unit at or soon after birth, and to examine the nature of continuity of care (COC) provided and the facilitators and barriers to woman‐ and family‐centred care from the perspective of women/parents and health professionals. Background: Limited research exists on current service and care pathways for families whose babies are diagnosed with congenital abnormality requiring surgery. Design: A mixed method sequential design adhering to EQUATOR guidelines for Good Reporting of a Mixed Methods Study. Methods: Data collection methods included: (1) a workshop with health professionals (n = 15), (2) retrospective maternal record review (n = 20), prospective maternal record review (17), (3) interviews with pregnant women given a prenatal diagnosis of congenital anomaly (n = 17) and (4) interviews with key health professionals (n = 7). Results/Findings: Participants perceived care delivered by state‐based services as problematic prior to admission into the high‐risk midwifery COC model. Once admitted to the high‐risk maternity team women described care 'like a breath of fresh air' with a 'contrast in support', where they felt supported in their decisions. Conclusion: This study highlights provision of COC, in particular relational continuity between health providers and women as essential to achieve optimal outcomes. Relevance to Clinical Practice: Provision of individualised COC offers an opportunity for perinatal services to reduce the negative consequences of pregnancy‐related stress associated with diagnosis of foetal anomaly. Patient or Public Contribution: No patient or public was involved in the design, analysis, preparation or writing of this review. [ABSTRACT FROM AUTHOR]

Background: The Toxoplasma gondii, an obligatory intracellular parasite, is the etiological agent of toxoplasmosis, which affects approximately one third of the world’s population. Objective: To analyze the frequency of Toxoplasma gondii infection in pregnant women in Foz do Iguaçu and possible factors associated with the infection. Method: A retrospective cross-sectional study (2017 data) was carried out, which evaluated serological tests, IgG and IgM antibodies for T. gondii during pregnancy and possible factors associated the infection, based on the prenatal records of pregnant women in health units, Foz do Iguaçu/PR. The χ2 test for trend was used for data analysis, and the odds ratio (OR) to estimate the chance of association between variables. Results: Of the 1,000 prenatal records analyzed, 781 (78.1%) had serology records for T. gondii, of which 265 (34.0%) were immune to T. gondii, 31 (3.9%) had IgG and IgM antibodies, and 516 (66.0%) were susceptible. Most pregnant women started prenatal care in the first trimester 467 (60.0%). There was a predominance of pregnant women with more than one pregnancy 200 (44.0% — p=0.00001), Brazilian 259 (35.1% — p=0.0112), aged >41 years old 7 (63.6%), complete high school 125 (37.8% — p<0.05), and of white skin color 140 (38.5% — p=0.0164). Conclusions: An average frequency of infection was identified among pregnant women. The associated factors evidenced should be considered during prenatal care, along with educational actions to prevent infection. [ABSTRACT FROM AUTHOR]

To determine the knowledge levels, attitudes, and behaviors of pregnant women who come to the obstetrics clinic in a university hospital about prenatal screening tests. It is a descriptive cross-sectional study. The population comprises approximately 900 pregnant women aged 28 weeks and beyond who applied to the Sivas Cumhuriyet University Faculty of Medicine, Obstetrics and Gynecology outpatient clinic between October and December 2021. The research questionnaire was used face-to-face with those who agreed to participate. The data form consisting of 21 questions included questions about pregnant women's descriptive characteristics and obstetric histories. 254 people participated. The mean gestational week of the participants was 34.9±3.9 (min:28-max:41). The most common screening tests were detailed ultrasound (80.7%) and double screening tests. Those who received information from their obstetrician had a significantly higher rate of having the difficulty. When the participants' knowledge scores about prenatal screening tests are evaluated, respectively, the Detailed ultrasound knowledge score was 5.6±0.9, Double test 5.0±1.3, Oral Glucose Tolerance Test(OGTT) 4.8±1.1, and Triple test 4.7±1.2(min:2- max:7). When the reasons for not having prenatal screening tests were questioned, the most common answer for all screening tests was "I don't think the test is necessary." For the OGTT, the second most common reason for not having it done was because they heard from the media that the test was harmful. The fact that the pregnant women who had a double and triple screening went to regular controls and had a high double-triple test knowledge score had a significant effect. Amniocentesis was recommended for 3.5% of the pregnant women based on prenatal test results, but none had amniocentesis. In case of unfavorable prenatal test results, most pregnant women were considering continuing the pregnancy. In this study, we found that the testing rate increased with the increasing knowledge level of pregnant women and physician counseling. In this context, health professionals should provide women with the necessary education about screening and diagnostic tests to enable them to make informed decisions. [ABSTRACT FROM AUTHOR]

Objective: Subclinical hypothyroidism is the most frequent thyroid dysfunction in pregnancy with an incidence of 2-5% which can easily be overlooked due to the absence of clinical symptoms. Studies have shown that thyroid hormones could alter the level of free beta-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein-A (PAPP-A) released from the placenta during early pregnancy. Since these two serum markers are the two of the parameters used in the first-trimester combined screening, we hypothesized that distorted risk calculation results could be obtained from pregnant women with subclinical hypothyroidism. Methods: We conducted a prospective and cohort study at a tertiary university hospital in northwest Turkey between February 2018 and June 2018, involving 250 pregnant women in their first trimester who were seeking care at the obstetrics outpatient clinic. After evaluation of thyroid functions, first-trimester screening was performed in all 250 singleton pregnancies with fetuses at 11+0 to 13+6 gestational weeks. Thyroid-stimulating hormone (TSH) values above 2,5 mIU/L were considered high. The correlation between the results and parameters of the first-trimester combined screening and thyroid hormone values was examined. Results: Among the participants, after analyzing the fT4 values, all 35 pregnant women with high TSH values were diagnosed with subclinical hypothyroidism. We observed a statistically weak negative correlation between TSH and ß-HCG, which was expected given the similarities in their alpha subunits. There was no statistically significant correlation between TSH and PAPP-A values, combined risk scores, and age risk scores of first-trimester screening. As a matter of course, combined risk scores of first-trimester screening were found to be statistically lower in younger mothers. Conclusion: Pregnant women with normal thyroid functions and subclinical hypothyroidism were investigated for alterations in first-trimester screening parameters and risk scores. As a result, no statistically significant correlation was found between subclinical hypothyroidism and first-trimester screening. [ABSTRACT FROM AUTHOR]

Liquid biopsy using cell-free DNA (cfDNA) has gained global interest as a molecular diagnostic tool. However, the analysis of cfDNA in cancer patients and pregnant women has been focused on short DNA molecules (e.g., ≤ 600 bp). With the detection of long cfDNA in the plasma of pregnant women and cancer patients in two recent studies, a new avenue of long cfDNA-based liquid biopsy has been opened. In this review, we summarize our current knowledge in this nascent field of long cfDNA analysis, focusing on the fragmentomic and epigenetic features of long cfDNA. In particular, long-read sequencing enabled single-molecule methylation analysis and subsequent determination of the tissue-of-origin of long cfDNA, which has promising clinical potential in prenatal and cancer testing. We also examine some of the limitations that may hinder the immediate clinical applications of long cfDNA analysis and the current efforts involved in addressing them. With concerted efforts in this area, it is hoped that long cfDNA analysis will add to the expanding armamentarium of liquid biopsy. [ABSTRACT FROM AUTHOR]

Aim: Assessment of the fetal adrenal gland (FAG) size and middle adrenal artery (MAA) Doppler parameters in pregnancy recovered from Coronavirus Disease (COVID‐19) and comparison of the values with the healthy control group. Methods: Thirty‐eight pregnant women who had recovered from COVID‐19 infection and 76 healthy control group between 33 and 35 weeks of gestation were involved in this case–control study. Fetuses were examined for fetal biometry, fetal well‐being, adrenal gland dimensions, and Doppler parameters 4–6 weeks after the diagnosis of COVID 19 infection. FAG dimensions were measured in two planes and MAA blood flow velocity was evaluated with pulsed Doppler. Pregnant women with COVID‐19 infection were grouped according to the National Institutes of Health for the severity of the disease, and those with mild and moderate infections were examined in the study. Results: The total adrenal gland (TAG) height, fetal zone (FZ) length and width, and MAA‐Peak Systolic Velocity (MAA‐PSV) were significantly higher, and the MAA‐Pulsatility Index (MAA‐PI) was significantly lower in the COVID‐19 group (p < 0.05). The lower in MAA‐PI and the higher in MAA‐PSV, the width of the FZ, and width of the TAG were found to be significant in the moderate group compared to the mild groups (p < 0.05). Conclusion: COVID‐19 pregnancies might cause early maturation of the FAG and its vasculature depends on the intrauterine stress due to the hyper‐inflammation, so fetuses exposed to maternal COVID‐19 suggested to have an increase in blood flow to the adrenal gland and fetal adrenal size. [ABSTRACT FROM AUTHOR]

Background: This paper evaluated the clinical utility of massively parallel sequencing-based non-invasive prenatal testing (NIPT) for detecting trisomy 21 (T21), T18, T13, sex chromosome aneuploidies (SCA), and rare chromosome aneuploidies (RCA) among the data collected by a clinical laboratory in southern China. Methods: In a 3-year period between January 2017 and December 2019, over 40,000 pregnant women underwent NIPT clinical screening test for fetal T21, T18, T13, SCA, and RCA in our laboratory. NIPT samples were processed using the NextSeq CN500 platform. The positive results were confirmed by karyotyping, and chromosomal microarray analysis (CMA) or copy number variants (CNV) sequencing. Details of the pregnancy outcomes were collected via telephone interview. Results: NIPT results were available for 41,819 cases; 691 positive cases were reported. The overall sensitivity for detection of T21, T18, T13, SCA, and RCA was 99.21, 100.00, 100.00, 98.55, and 100.00%, and the specificity was 99.95, 99.94, 99.98, 99.69, and 99.92%, respectively. The positive predictive values (PPVs) for detection of T21, T18, T13, SCA, and RCA were 85.62, 45.24, 40.00, 34.17, and 13.51%, respectively, and those for detection of 45,X, 47,XXY, 47,XXX, 47,XYY, and 46,XY(delX) 20.00, 59.18, 28.95, 61.54, and 25.00%, respectively. Regarding pregnancy outcomes, 92.38% of the pregnancies with confirmed aneuploidies were terminated, and 91.20% of those identified as having a false-positive result were carried to term. Among 252 unconfirmed cases, 24.60% of the pregnancies were terminated and 38.10% carried to term, while 37.30% declined interview. Conclusions: NIPT is widely used to screen fetal aneuploidies based on its high sensitivity and specificity. However, in this study, the PPVs of NIPT in terms of detecting T18, T13, XO, XXX and RCA were < 50%. In addition, more than one-third of NIPT-positive women did not accept invasive prenatal diagnosis. Confirmatory diagnosis is strongly recommended for women with positive NIPT outcomes before any further decision is made. [ABSTRACT FROM AUTHOR]

Context: Klippel--Trenaunay--Weber syndrome (KTWS) is a rare disease characterized by a triad of venous malformations, vascular skin nevus and asymmetric hypertrophy of bone and soft tissue. The spectrum of disease in utero varies from asymptomatic nevus flammeus to life threatening complications like Kasabach--Merritt phenomena. Aim: The aim of this study was to review our experience of antenatal diagnosis of KTWS and it's postnatal management. Settings and Design: This was a retrospective observational study of all pregnant women who were antenatally diagnosed with KTWS and postnatally confirmed at a tertiary care center in north India between 2012 and 2021. Subjects and Methods: The electronic medical records were reviewed and data were collected regarding demographic information, obstetric history, clinical presentation, sonographic findings, mode of delivery, fetal outcome, and follow-up. Results: During the study period, four fetuses were diagnosed with KTWS on sonography. Three women were multigravida whereas one was a primigravida. Two women opted for medical termination of pregnancy and one each had liveborn child and an intra-uterine fetal death. KTWS was confirmed in all cases. The liveborn child underwent treatment for the vascular malformation and is alive at 4 years of age. Conclusions: This study attempts to add onto the available literature regarding the spectrum of prenatal presentations of KTWS. It emphasizes the importance of prenatal diagnosis and follow-up of the fetus/neonate. [ABSTRACT FROM AUTHOR]

Background: To develop an ultrasound scoring system for placenta accreta spectrum (PAS), evaluate its diagnostic value, and provide a practical approach to prenatal diagnosis of PAS. Methods: A total of 532 pregnant women (n = 184 no PAS, n = 120 placenta accreta, n = 189 placenta increta, n = 39 placenta percreta) at high-risk for placenta accreta who delivered in the Third Affiliated Hospital of Zhengzhou University between January 2021 and December 2022 underwent prenatal ultrasound to evaluate placental invasion. An ultrasound scoring system that included placental and cervical morphology and history of cesarean section was created. Each feature was assigned a score of 0 ~ 2, according to severity. Thresholds for the total ultrasound score that discriminated between no PAS, placenta accreta, placenta increta, and placenta percreta were calculated. Results: Univariate and multivariate regression analysis identified seven indicators of PAS that were included in the ultrasound scoring system, including placental location, placental thickness, presence/absence of the retroplacental space, thickness of the retroplacental myometrium, presence/absence of placental lacunae, retroplacental myometrial blood flow and history of cesarean section. Using the final ultrasound scoring system, no PAS is diagnosed at a total score < 5, placenta accreta or placenta increta is diagnosed at a total score 5–10, and placenta percreta is diagnosed at a total score ≥ 10. Conclusions: This study identified seven indicators of PAS and included them in an ultrasound scoring system that has good diagnostic efficacy and clinical utility. Trial registration: ChiCTR2300069261 (retrospectively registered on 10/03/2023). [ABSTRACT FROM AUTHOR]

We developed and validated a next generation sequencing-(NGS) based NIPT assay using quantitative counting template (QCT) technology to detect RhD, C, c, E, K (Kell), and Fya (Duffy) fetal antigen genotypes from maternal blood samples in the ethnically diverse U.S. population. Quantitative counting template (QCT) technology is utilized to enable quantification and detection of paternally derived fetal antigen alleles in cell-free DNA with high sensitivity and specificity. In an analytical validation, fetal antigen status was determined for 1061 preclinical samples with a sensitivity of 100% (95% CI 99–100%) and specificity of 100% (95% CI 99–100%). Independent analysis of two duplicate plasma samples was conducted for 1683 clinical samples, demonstrating precision of 99.9%. Importantly, in clinical practice the no-results rate was 0% for 711 RhD-negative non-alloimmunized pregnant people and 0.1% for 769 alloimmunized pregnancies. In a clinical validation, NIPT results were 100% concordant with corresponding neonatal antigen genotype/serology for 23 RhD-negative pregnant individuals and 93 antigen evaluations in 30 alloimmunized pregnancies. Overall, this NGS-based fetal antigen NIPT assay had high performance that was comparable to invasive diagnostic assays in a validation study of a diverse U.S. population as early as 10 weeks of gestation, without the need for a sample from the biological partner. These results suggest that NGS-based fetal antigen NIPT may identify more fetuses at risk for hemolytic disease than current clinical practice, which relies on paternal genotyping and invasive diagnostics and therefore is limited by adherence rates and incorrect results due to non-paternity. Clinical adoption of NIPT for the detection of fetal antigens for both alloimmunized and RhD-negative non-alloimmunized pregnant individuals may streamline care and reduce unnecessary treatment, monitoring, and patient anxiety. [ABSTRACT FROM AUTHOR]

• With an own financial contribution, there is no equal access to fetal aneuploidy screening. • To overcome this inequality, the own contribution of the NIPT should be abandoned. • Since the majority of the parents makes an informed choice, the fear of routinization is redundant. First trimester non-invasive prenatal testing (NIPT) provides pregnant women with a reliable, non-invasive method to screen for fetal aneuploidies. In the Netherlands, there is a nationwide prenatal screening program in which pregnant women and their partners are counseled about their options around 10 weeks of pregnancy. The first trimester and second trimester scan are fully reimbursed but the NIPT has an own financial contribution of €175 per participant, irrespective of type of insurance. The arguments for this own contribution are fear of uncritical use of NIPT or routinization. NIPT has a relatively stable uptake of 51%, against over 95% for second trimester anomaly scan. We aimed to explore the effect of this financial contribution on the decision to opt out of NIPT. We performed a survey among 350 pregnant women undergoing a second trimester anomaly scan in our center, Amsterdam UMC, between January 2021 and April 2022. All pregnant women who declined NIPT in the first trimester, were asked to participate and answered 11–13 questions about the decision-making process, the reasons to opt out and the financial contribution. Information about NIPT was desired in 92% of women and 96% felt sufficiently informed. Most women took the decision not to perform NIPT with their partner and did not experience difficulties in taking this decision. The most important reason to decline NIPT was: "Every child is welcome" (69%). "The test was too expensive" was answered in 12% and was significantly correlated with lower maternal age. Additionally, one in five women (19%) said they would have done NIPT if it had been for free, which was significantly higher in younger women. The own financial contribution plays a role in the decision-making to decline NIPT and partly explains the low uptake in the Netherlands. This suggests that there is no equal access to fetal aneuploidy screening. To overcome this inequality, this own contribution should be abandoned. We speculate that this will have a positive effect on the uptake, which will increase to at least 70% and potentially 94%. [ABSTRACT FROM AUTHOR]

The prevalence of thalassemia among the Vietnamese population was studied, and clinical decision support systems (CDSSs) for prenatal screening of thalassemia were created. A cross-sectional study was conducted on pregnant women and their husbands visiting from October 2020 to December 2021. A total of 10,112 medical records of first-time pregnant women and their husbands were collected. CDSS including two different types of systems for prenatal screening for thalassemia (expert system [ES] and four artificial intelligence [AI]-based CDSS) was built. 1,992 cases were used to train and test machine learning (ML) models while 1,555 cases were used for specialized ES evaluation. There were 10 key variables for AI-based CDSS for ML. The four most important features in thalassemia screening were identified. Accuracy of ES and AI-based CDSS was compared. The rate of patients with alpha thalassemia is 10.73% (1,085 patients), the rate of patients with beta-thalassemia is 2.24% (227 patients), and 0.29% (29 patients) of patients carry both alpha-thalassemia and beta-thalassemia gene mutations. ES showed an accuracy of 98.45%. Among AI-based CDSS developed, multilayer perceptron model was the most stable regardless of the training database (accuracy of 98.50% using all features and 97.00% using only the four most important features). AI-based CDSS showed satisfactory results. Further development of such systems is promising with a view to their introduction into clinical practice. [ABSTRACT FROM AUTHOR]

During pregnancy, parents experiment emotions, thoughts, and behaviors related to their unborn child as precursors of attachment in the caretaker-infant dyad. The Maternal Antenatal Attachment Scale (MAAS) is an instrument that has shown adequate psychometric properties to evaluate this construct in developed countries. The aim of this study was to assess the reliability and concurrent validity of the Maternal Antenatal Attachment Scale-Spanish version for Mexican women (MAAS-Spanish version). A sample of 142 women in their third trimester of pregnancy who received care in a tertiary hospital was selected. The full scale of the MAAS-Spanish version obtained a Cronbach alpha of.79. A significant negative correlation was found between the global MAAS-Spanish version score (r = -.23, p ≤.01) and the Postpartum Depression Predictors Inventory-Revised and depressive symptoms (r = -.36 , p ≤.01). The translated and adapted scale has adequate internal consistency and concurrent validity to measure this construct in this population. [ABSTRACT FROM AUTHOR]

The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of massively parallel sequencing have revolutionized prenatal testing from invasive to noninvasive. Noninvasive prenatal screening (NIPS) based on cffDNA enables the detection of fetal trisomy through sequencing, comparison, and bioassays. Its accuracy is better than that of traditional screening methods, and it is the most advanced clinical application of high-throughput sequencing technologies. However, the existing sequencing methods are limited by high costs and complex sequencing procedures. These limitations restrict the availability of NIPS for pregnant women. Many amplification methods have been developed to overcome the limitations of sequencing methods. The rapid development of non-sequencing methods has not been accompanied by reviews to summarize them. In this review, we initially describe the detection principles for sequencing-based NIPS. We summarize the rapidly evolving amplification technologies, focusing on the need to reduce costs and simplify the procedures. To ensure that the testing systems are feasible and that the testing processes are reliable, we expand our vision to the clinic. We evaluate the clinical validity of NIPS in terms of sensitivity, specificity, and positive predictive value. Finally, we summarize the application guidelines and discuss the corresponding quality control methods for NIPS. In addition to cffDNA, extracellular vesicle DNA, RNA, protein/peptide, and fetal cells can also be detected as biomarkers of NIPS. With the development of prenatal testing, NIPS has become increasingly important. Notably, NIPS is a screening test instead of a diagnostic test. The testing methods and procedures used in the NIPS process require standardization. [ABSTRACT FROM AUTHOR]

Objectives: To assess changes in mental health and social risk factors in pregnant women in counties affected by Hurricane Michael (October 2018). Methods: Data from the Universal Perinatal Risk Screen (UPRS) and vital statistics for the state of Florida were obtained. Prenatal risk factors (unplanned pregnancy, mental health services, high stress, use of tobacco or alcohol, young children at home or with special needs, trouble paying bills) were compared in the year before and year after Hurricane Michael in affected counties (n = 18,887). Log-Poisson regression with robust variance was used for binary outcomes, adjusting for maternal age, race, BMI, and education. Results: A smaller proportion of pregnant women were screened in the months after the hurricane. No changes were seen in overall scores. The proportion referred was lower in the 1 month after Michael compared to that in 1 month before Michael (RR 0.78, 95% CI = 0.71, 0.86), but greater in the year after (RR = 1.07, 95% CI: 1.04, 1.10). Most individual risk factors on the screener did not change significantly, except having an illness that required ongoing medical care was less common in the short term (3 months after vs. 3 months before: aRR = 0.76, 95% CI: 0.66, 0.87), and more common in the longer term (1 year after vs. 1 year before, aRR = 1.09, 95% CI: 1.02, 1.18). Birth certificate data suggested smoking during pregnancy was higher among women who experienced Michael during their pregnancies (aRR = 1.15, 95% CI: 1.01, 1.32). Discussion: Perinatal screening and referral declined in the short-term aftermath of Hurricane Michael. [ABSTRACT FROM AUTHOR]

Cytomegalovirus infection is the most common congenital infection, affecting about 1% of births worldwide. Several primary, secondary, and tertiary prevention strategies are already available during the prenatal period to help mitigate the immediate and long-term consequences of this infection. In this review, we aim to present and assess the efficacy of these strategies, including educating pregnant women and women of childbearing age on their knowledge of hygiene measures, development of vaccines, screening for cytomegalovirus infection during pregnancy (systematic versus targeted), prenatal diagnosis and prognostic assessments, and preventive and curative treatments in utero. [ABSTRACT FROM AUTHOR]

Background: Non‐invasive prenatal testing (NIPT) using cell‐free DNA (cfDNA) has expanded from detecting chromosome aneuploidy to testing for a variety of genetic conditions, including some select single gene disorders. As next generation sequencing/whole exome sequencing technology develops, it may be possible to expand NIPT of cfDNA to identify hundreds of single gene and chromosomal disorders in a fetus, thereby increasing the complexity of pretest counselling and parental decision‐making. Aim: The aim of this study was to assess the views of women on the phenotypes of genetic conditions potentially detectable with expanded NIPT that they would consider severe enough to warrant pregnancy termination. Materials and Methods: Using multiple clinical scenarios, we asked women via an online survey about the early detection of several well‐described genetic phenotypes in pregnancy that in theory could be detected by expanded NIPT. Results: Two hundred and nineteen women participated in this study. There was high support for early diagnosis and the option for termination of pregnancy in conditions perceived as severe (52–71%). Women expressed a preference for testing to be provided by general practitioners and assigned a high value to genetic counselling support (75–90%). In the case of a continuing pregnancy, women recognised the essential role of ongoing psychosocial counselling for family members and childhood early intervention programs. Conclusion: Women expressed clear preferences for termination of pregnancy for severe conditions and as early in gestation as feasible. Information and support from genetic counsellors are a highly valued resource in decision‐making following a prenatal diagnosis of a fetal genetic abnormality. [ABSTRACT FROM AUTHOR]

Investigating expectant mothers' pregnancy in Taiwan, this paper examines prenatal ultrasound as an ongoing invention of its users in general and pregnant women in particular. Instead of being passive consumers, pregnant women actively invent and reconfigure prenatal ultrasound using flexible interpretation and strategic reinscription. There is an inevitably ambivalent technological experience of prenatal ultrasound across cultures. Whereas pregnant women are pleased and reassured to see their babies 'on the screen,' my analysis shows that, prenatal ultrasound as a passive diagnostic tool that cannot offer active treatment, and the fact that prenatal ultrasound helps to make up morality surrounding pregnancy, constitutes the main source of mothers-to-be's negative technological experiences of prenatal ultrasound. Whereas prenatal ultrasound has been regarded as an indispensable and authoritative method of keeping users informed, adopting a hybrid approach, pregnant women still actively refer to local knowledge to understand their pregnancy. [ABSTRACT FROM AUTHOR]