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OBJECTIVE: We report findings from a U.S. mixed-methods pilot study of the Person-Centered Care in Fetal Care Centers (PCC-FCC) Scale. METHODS: Participants, who received care at a U.S. Fetal Care Center (FCC) between 2017 and 2021, completed an online questionnaire providing sociodemographic details, specifics about the care received, qualitative experiences, and scores from the PCC-FCC Scale. RESULTS: Participants (n = 247) PCC-FCC scores and qualitative feedback indicate high perceived person-centered care (PCC), particularly in areas of care coordination, respectful care, and patient education. However, 8% scored below the midpoint, and 38% of comments were negative, especially regarding expectation setting, preparation for post-intervention maternal health, and psychosocial support. Public insurance was associated with higher total PCC-FCC (p = 0.03) and Factor 2 scores (p = 0.02) compared to those with private insurance. The qualitative themes trust, clarity, comprehensive care, compassion, and belonging further elucidate the concept of PCC in FCCs. CONCLUSION: The PCC-FCC Scale pilot study revealed strong overall PCC in FCCs, yet variability in patient experiences suggests areas needing improvement, including expectation setting, preparation for post-intervention maternal health, and psychosocial support. Future research must prioritize diverse samples and continued mixed methodologies to better understand the role of insurance and identify other potential disparities, ensuring comprehensive representation of the FCC patient population.

Our aim was to assess factors associated with stigmatizing behaviour and beliefs in women who had termination of pregnancy due to fetal anomalies.This was a cross-sectional study of women who had pregnancy termination due to fetal anomalies and age-matched pregnant women as controls, conducted between January - December 2023, at a tertiary fetal medicine center in a metropolitan area. The participitants completed the Turkish-validated version(1) of Stigmatizing Attitudes, Beliefs and Actions Scale (SABAS) (2) and psychological flexibility scale(3, 4) upon admission. Maternal sociodemographic and obstetric history data were collected and analyzed with the questionnaires. Abortion stigma was low in both groups (mean scores 30 vs. 31, out of the maximum score of 90, p=0.65). Psychological flexibility was higher among the control group (132 vs. 109, p<0.001). Higher education and higher economic stat us were inversely related to abortion stigma (26 7 vs. 33 9, p=0.0014 and 26 7 vs. 31 10, p=0.05, respectively). Women who had at least one child had more stigma towards pregnancy termination compared to women who do not have any children (32 9 vs. 27 8, p=0.02). Timing of termination of pregnancy (first vs. second trimester), maternal age, presence or absence of aneuploidy screening test, time from diagnosis to termination were not fac tors associated with abortion stigma and psychological flexibility. We have shown that abortion stigma is quite low among pregnant women who had to terminate their pregnancy due to fetal anomalies and women who had healthy, ongoing pregnancies. Stigmatizing beliefs and behaviours are positively associated with having at least one child, and negatively associated with higher education and higher economic status. Stigma can adversely affect mental health, making it important for healthcare providers to offer compassionate support and counseling. [ABSTRACT FROM AUTHOR]

Background: Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to evaluate its diagnostic yield. Methods: In this retrospective cohort study, the couples performing prenatal exome sequencing were enrolled. Fetal phenotype was classified according to ultrasound and magnetic resonance imaging findings. Genetic variants were analyzed based on a phenotype-driven followed by genotype-driven approach in all trios. Results: A total of 97 diagnostic variants in 65 genes were identified in 69 fetuses, with an average detection rate of 13.48%. Skeletal and renal system were the most frequently affected organs referred for whole exome sequencing, with the highest diagnostic rates. Among them, short femur and kidney cyst were the most common phenotype. Fetal growth restriction was the most frequently observed phenotype with a low detection rate (4.3%). Exome sequencing had limited value in isolated increased nuchal translucency and chest anomalies. Conclusions: This study provides our data on the detection rate of whole exome sequencing in fetal anomalies in a large cohort. It contributes to the expanding of phenotypic and genotypic spectrum. [ABSTRACT FROM AUTHOR]

Objective: This work aimed to investigate the potential correlation between chromosomal polymorphisms and various reproductive abnormalities. Methods: We examined 21,916 patients affected by infertility who sought care at the Department of Reproductive Medicine, Affiliated Hospital of Shandong Second Medical University between January 2018 and December 2022. A total of 2227 individuals identified as chromosomal polymorphism carriers constituted the polymorphism group, and 2245 individuals with normal chromosome karyotypes were randomly selected to form a control group. Clinical manifestations, histories of spontaneous miscarriage, abnormal reproductive developments, fetal abnormalities, and male sperm quality anomalies were statistically compared between these two groups. Results: Of the 21,916 patients analyzed, 2227 displayed chromosomal polymorphism, representing a 10.16% detection rate. Amongst the male patients, 1622 out of 10,827 exhibited polymorphisms (14.98%), whereas 605 out of 11,089 females showed polymorphisms (5.46%). Female carriers in the polymorphism group, showed statistically significant increased rates of spontaneous abortion (29.75% vs. 18.54%), fetal anomalies (1.32% vs. 0.81%), and uterine abnormalities compared with the control group (1.32% vs. 0.81%). Male carriers in the polymorphism group had higher rates of spontaneous abortion in partners (22.87% vs. 10.37%), fetal anomalies (1.97% vs. 0.25%), compromised sperm quality (41.74% vs. 7.18%), testicular underdevelopment (2.28% vs. 0.92%), and hypogonadotropic hypogonadism (0.62% vs. 0.37%) compared with the control group. Conclusion: Chromosomal polymorphisms may have a certain negative effect on reproductive irregularities, including spontaneous abortions, fetal anomalies, and reduced sperm quality in males. Their clinical effects deserve further investigation. [ABSTRACT FROM AUTHOR]

Introduction: The decision to terminate a pregnancy due to fetal anomalies can have a significant emotional impact, especially in second‐trimester terminations. Previous studies on the psychological consequences of pregnancy termination have had limitations, and little is known about the outcomes for partners and the impact of fetal donation. Therefore, we aimed to investigate the psychological effects of second‐trimester pregnancy termination and identify factors associated with outcomes in both women and men, including donation of fetal remains to science. Material and Methods: A longitudinal cohort study was conducted at the Amsterdam UMC in the Netherlands, involving women and partners who underwent termination at or before 23 weeks and 6 days of gestation. Questionnaires were administered at termination, 6 weeks, and 4 months after. We utilized validated questionnaires to assess psychological morbidity (grief, post‐traumatic stress and postnatal depression and quality of life [QoL]), and factors that could potentially influence outcomes. Results: Of 241 participants, women displayed more pronounced psychological distress than men, though both groups improved over time. Four months after termination, 27.4% of women and 9.1% of men showed signs of pathological grief. Scores indicative for postnatal depression occurred in 19.8% women and 4.1% of men. A prior psychiatric history was a consistent predictor of poorer outcomes. Fetal donation to the Dutch Fetal Biobank was associated with reduced likelihood of symptoms of complicated grief four months after termination. Conclusions: Second‐trimester termination of pregnancy for fetal anomalies can lead to psychological morbidity, particularly in women. However, there is a notable improvement over time for both groups. Individuals with prior psychiatric history appear more vulnerable post‐termination. Also, fetal donation to science did not have a negative impact on psychological well‐being. [ABSTRACT FROM AUTHOR]

Abstract Background Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to evaluate its diagnostic yield. Methods In this retrospective cohort study, the couples performing prenatal exome sequencing were enrolled. Fetal phenotype was classified according to ultrasound and magnetic resonance imaging findings. Genetic variants were analyzed based on a phenotype-driven followed by genotype-driven approach in all trios. Results A total of 97 diagnostic variants in 65 genes were identified in 69 fetuses, with an average detection rate of 13.48%. Skeletal and renal system were the most frequently affected organs referred for whole exome sequencing, with the highest diagnostic rates. Among them, short femur and kidney cyst were the most common phenotype. Fetal growth restriction was the most frequently observed phenotype with a low detection rate (4.3%). Exome sequencing had limited value in isolated increased nuchal translucency and chest anomalies. Conclusions This study provides our data on the detection rate of whole exome sequencing in fetal anomalies in a large cohort. It contributes to the expanding of phenotypic and genotypic spectrum.

Abstract Objective This work aimed to investigate the potential correlation between chromosomal polymorphisms and various reproductive abnormalities. Methods We examined 21,916 patients affected by infertility who sought care at the Department of Reproductive Medicine, Affiliated Hospital of Shandong Second Medical University between January 2018 and December 2022. A total of 2227 individuals identified as chromosomal polymorphism carriers constituted the polymorphism group, and 2245 individuals with normal chromosome karyotypes were randomly selected to form a control group. Clinical manifestations, histories of spontaneous miscarriage, abnormal reproductive developments, fetal abnormalities, and male sperm quality anomalies were statistically compared between these two groups. Results Of the 21,916 patients analyzed, 2227 displayed chromosomal polymorphism, representing a 10.16% detection rate. Amongst the male patients, 1622 out of 10,827 exhibited polymorphisms (14.98%), whereas 605 out of 11,089 females showed polymorphisms (5.46%). Female carriers in the polymorphism group, showed statistically significant increased rates of spontaneous abortion (29.75% vs. 18.54%), fetal anomalies (1.32% vs. 0.81%), and uterine abnormalities compared with the control group (1.32% vs. 0.81%). Male carriers in the polymorphism group had higher rates of spontaneous abortion in partners (22.87% vs. 10.37%), fetal anomalies (1.97% vs. 0.25%), compromised sperm quality (41.74% vs. 7.18%), testicular underdevelopment (2.28% vs. 0.92%), and hypogonadotropic hypogonadism (0.62% vs. 0.37%) compared with the control group. Conclusion Chromosomal polymorphisms may have a certain negative effect on reproductive irregularities, including spontaneous abortions, fetal anomalies, and reduced sperm quality in males. Their clinical effects deserve further investigation.

The aim of this study was to propose Management, Outcome, Risk, and Expectation (MORE) as a risk based stratification to aid in antenatal parental counseling and decision making through a systematic review of published literature. A Preferred Reporting Items for Systematic Reviews and Meta Analyses compliant systematic review was conducted to include articles that covered antenatal counseling of pediatric surgical conditions. The following information was solicited for each anomaly: primary organ syste*-m of involvement, single or multi system anomaly, natural history of the disease, standard management of the anomaly, need for antenatal intervention, and whether the anomaly requires any alteration in the obstetric management. Twenty two studies were identified fulfilling the inclusion criteria, between 1993 and 2023. Only two studies were found to have GRADE A recommendation and Level I evidence. Most of the studies were review articles/ survey, and 6 studies were found to be retrospective observational studies. Based on the analysis of the solicited information, the anomalies were stratified into a group subsequently maturing them into a simplified MORE classification scheme which stressed the importance of Management (10, 45.45%), Outcome (9, 40.90%), Risk (9, 40.90%), and Expectation (10, 45.45%) categories during antenatal counseling. MORE classification of fetal structural anomalies is a simple but comprehensive framework to assist the physicians and other medical personnel antenatal parental counseling and decision making.

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.S. and published in English after 1999. We employed the Healthy People 2020 SDOH framework to categorize and analyze data from 16 studies, where 86% focused solely on congenital heart disease (CHD). Studies primarily focused on individual-level SDOH, with only 36% addressing structural-level factors. A total of 31 distinct indicators of SDOH were identified, with 68% being unique to individual studies. Indicators often varied in definition and specificity. Three studies covered all five SDOH categories in the Healthy People 2020 Framework. Studies revealed varying and often conflicting associations with SDOH indicators, with race and ethnicity being the most explored (100%), followed by socioeconomic status (69%), maternal age (57%), residence (43%), and structural factors (29%). Our findings highlight the need for more comprehensive research, including conditions beyond CHD, and the establishment of consensus on indicators of SDOH. Such efforts are necessary to gain a deeper understanding of the underlying factors driving disparities in fetal diagnosis and treatment. [ABSTRACT FROM AUTHOR]

The aim of this study was to propose Management, Outcome, Risk, and Expectation (MORE) as a risk based stratification to aid in antenatal parental counseling and decision making through a systematic review of published literature. A Preferred Reporting Items for Systematic Reviews and Meta Analyses compliant systematic review was conducted to include articles that covered antenatal counseling of pediatric surgical conditions. The following information was solicited for each anomaly: primary organ system of involvement, single or multi system anomaly, natural history of the disease, standard management of the anomaly, need for antenatal intervention, and whether the anomaly requires any alteration in the obstetric management. Twenty two studies were identified fulfilling the inclusion criteria, between 1993 and 2023. Only two studies were found to have GRADE A recommendation and Level I evidence. Most of the studies were review articles/ survey, and 6 studies were found to be retrospective observational studies. Based on the analysis of the solicited information, the anomalies were stratified into a group subsequently maturing them into a simplified MORE classification scheme which stressed the importance of Management (10, 45.45%), Outcome (9, 40.90%), Risk (9, 40.90%), and Expectation (10, 45.45%) categories during antenatal counseling. MORE classification of fetal structural anomalies is a simple but comprehensive framework to assist the physicians and other medical personnel antenatal parental counseling and decision making. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the umbilical cord are associated with an increased risk of pregnancy and perinatal complications. Some anomalies of the cord have a higher prevalence than other fetal structural anomalies. The most common anomalies are the absence of an umbilical artery and velamentous insertion of the cord (with or without vasa previa). These anomalies, even when not associated with fetal structural defects, increase the risk of adverse perinatal outcome including, fetal growth restriction and stillbirth. In the absence of prenatal diagnosis, vasa previa is associated with the highest perinatal morbidity and mortality of all congenital anomalies of the umbilical cord. Most cases can be detected by ultrasound from the beginning of the second trimester and should be included in the routine mid-pregnancy ultrasound examination. Documentation should include cord insertion site, number of vessels in the cord, and if other pathologies have been detected. Pregnancies at increased risk of velamentous cord insertion should be screened for vasa previa using transvaginal ultrasound and colour Doppler imaging. If a velamentous cord insertion or isolated single umbilical artery is detected, individualised follow-up during pregnancy and tailored obstetric management are indicated. [ABSTRACT FROM AUTHOR]

Background: A higher risk of birth defects in assisted reproductive technologies (ART) pregnancies compared to natural pregnancies has been previously reported. Objective: This retrospective study aimed to explore the association of male-factor related infertility with first-trimester anomalies, aneuploidy, and biochemical markers in infertile patients undergoing ART. Method: The complete medical records of infertile patients referred to the infertility and prenatal cen- ters in Ahvaz, Iran during the past five years were assessed, which included ART-induced pregnancies due to male factors (n=124) and or other infertility causes (n=176). Results: The most common causes of infertility were respectively the male factor (41.3%), ovulation dis- orders (26%), and unexplained factors (13.3%). A significant correlation was found between the infertility causes and the history underlying systemic diseases and medication history (p<0.05). The serum levels of MoM β-hCG and PAPP-A were significantly lower in the male factor-related infertilities than non-male fac- tor-related infertilities (p=0.0001). The rate of fetal and placental anomalies was significantly higher in male factor-related infertilities than non-male factor-related infertilities (p=0.03). However, according to the results of multivariable logistic regression, association between the male factor-related infertility and fetal/placental anomalies was not independent of the effects of low levels of MoM β-hCG and PAPP-A. Conclusion: Causes of infertility, particularly male factor, together with low levels of MoM β-hCG and PAPP-A, might be associated with the high risk of fetal and placental anomalies in ART pregnancies. How- ever, further large-scale multi-center and prospective investigations are needed to reach more accurate conclusion. [ABSTRACT FROM AUTHOR]

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Introduction: The use of modern technologies, including artificial intelligence (AI), in medical imaging is a current hot topic. Standardization of radiologic and ultrasound scans of the studied area is a prerequisite for implementation of this computer system. It is important to create and apply AI in ultrasound diagnosis of fetal central nervous system (CNS) anomalies in order to improve the quality of differential diagnosis.Objective: To evaluate diagnostic accuracy of AI in detecting fetal CNS anomalies between 19 and 22 weeks’ gestation. Materials and methods: We conducted a multicenter 2-stage study to evaluate AI effectiveness in detecting fetal CNS anomalies between 19 and 22 weeks’ gestation. At stage I, more than 1500 pregnant women underwent sonographic examination of the fetal head in the axial plane with 5 anatomical landmarks, and we recorded a 15-second video in the MP4 format (video sequence). At stage II, we tested “Decision-Making System for Detecting Fetal Central Nervous System Anomalies” to determine its diagnostic accuracy.Results: The diagnostic accuracy of the developed software (“Formulation of an Imaging-Based Diagnosis of Fetal Central Nervous System Anomalies”) in regard to such parameters as “normal findings” and “abnormal findings” was 78.9%. The diagnostic accuracy for formulation of a specific imaging-based diagnosis was 74.4%.Conclusions: The AI implemented into modern ultrasound differential diagnosis of fetal CNS anomalies between 19 and 22 weeks’ gestation will make it possible to formulate an imaging-based diagnosis (“normal findings”/“abnormal findings”) with high accuracy and can be used as an additional computer technology in the primary screening of pregnant women.

Fetal anomalies, characterized by structural or functional abnormalities occurring during intrauterine life, pose a significant medical challenge, with a notable prevalence, affecting approximately 2–3% of live births and 20% of spontaneous miscarriages. This study aims to identify the genetic cause of ultrasound anomalies through clinical exome sequencing (CES) analysis. The focus is on utilizing CES analysis in a trio setting, involving the fetuses and both parents. To achieve this objective, prenatal trio clinical exome sequencing was conducted in 51 fetuseses exhibiting ultrasound anomalies with previously negative results from chromosomal microarray (CMA) analysis. The study revealed pathogenic variants in 24% of the analyzed cases (12 out of 51). It is worth noting that the findings include de novo variants in 50% of cases and the transmission of causative variants from asymptomatic parents in 50% of cases. Trio clinical exome sequencing stands out as a crucial tool in advancing prenatal diagnostics, surpassing the effectiveness of relying solely on chromosomal microarray analysis. This underscores its potential to become a routine diagnostic standard in prenatal care, particularly for cases involving ultrasound anomalies.

Birth defects (BD) are an important cause of neonatal mortality and can be associated with premature birth. The study aimed to develop a prognostic model for congenital malformations in mothers with a history of preterm delivery, using logistic regression analysis. The study included 665 mothers of children with BD, of which 432 (65%) had a history of preterm delivery (main group), and 233 (35%) had term delivery (control group). Variables examined included pregnancy history, genetic factors, and biochemical markers. Statistical analysis found significant associations between BD and preterm delivery, intrauterine malformations, miscarriages, MTHFR polymorphism, and HLA antigens. The logistic model showed good predictive performance. The area under the ROC curve was 0.769 for pregnancy history, 0.699 for miscarriages, and 0.630 for intrauterine malformations, indicating moderate predictive ability. A statistical relationship was found between BD risk and pregnancy history, intrauterine malformations, miscarriages, and genetic factors. The resulting logistic model may help predict BD risk in mothers with a preterm delivery history.

Abstract Objectives Standard genetic testing can fail to identify an underlying genetic etiology in pregnancies affected by multiple fetal abnormalities. Recently, whole exome sequencing (WES) studies have shown promise in recognizing genetic diagnoses where standard genetic testing does not yield answers. Case presentation A 35-year-old G1P0 healthy female found at anatomy scan to have multiple fetal anomalies, including severe bilateral ventriculomegaly, renal pyelectasis, and short long bones. Karyotype and microarray were normal. Whole exome sequencing showed the fetus was compound heterozygous for likely pathogenic variants in the ROBO1 gene. Conclusions In the presence of multiple fetal anomalies with normal karyotype and microarray, whole exome sequencing should be considered to not only provide answers for the affected parents, but also aid in future pregnancy planning.

These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of central nervous system anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings. [ABSTRACT FROM AUTHOR]

Dolutegravir (DTG) is one of the most prescribed antiretroviral drugs for treating people with HIV infection, including women of child-bearing potential or pregnant. Nonetheless, neuropsychiatric symptoms are frequently reported. Early reports suggested that, probably in relation to folic acid (FA) shortage, DTG may induce neural tube defects in infants born to women taking the drug during pregnancy. Subsequent reports did not definitively confirm these findings. Recent studies in animal models have highlighted the association between DTG exposure in utero and congenital anomalies, and an increased risk of neurologic abnormalities in children exposed during in utero life has been reported. Underlying mechanisms for DTG-related neurologic symptoms and congenital anomalies are not fully understood. We aimed to deepen our knowledge on the neurodevelopmental effects of DTG exposure and further explore the protective role of FA by the use of zebrafish embryos. We treated embryos at 4 and up to 144 h post fertilization (hpf) with a subtherapeutic DTG concentration (1 μM) and observed the disruption of the anterior–posterior axis and several morphological malformations in the developing brain that were both prevented by pre-exposure (2 hpf) and rescued by post-exposure (10 hpf) with FA. By whole-mount in situ hybridization with riboprobes for genes that are crucial during the early phases of neurodevelopment (ntl, pax2a, ngn1, neurod1) and by in vivo visualization of the transgenic Tg(ngn1:EGFP) zebrafish line, we found that DTG induced severe neurodevelopmental defects over time in most regions of the nervous system (notochord, midbrain–hindbrain boundary, eye, forebrain, midbrain, hindbrain, spinal cord) that were mostly but not completely rescued by FA supplementation. Of note, we observed the disruption of ngn1 expression in the dopaminergic regions of the developing forebrain, spinal cord neurons and spinal motor neuron projections, with the depletion of the tyrosine hydroxylase (TH)+ dopaminergic neurons of the dorsal diencephalon and the strong reduction in larvae locomotion. Our study further supports previous evidence that DTG can interfere with FA pathways in the developing brain but also provides new insights regarding the mechanisms involved in the increased risk of DTG-associated fetal neurodevelopmental defects and adverse neurologic outcomes in in utero exposed children, suggesting the impairment of dopaminergic pathways. [ABSTRACT FROM AUTHOR]

Background: Fetal ultrasound has limitations, especially if the patient is obese or in cases with oligohydramnios. Magnetic resonance imaging (MRI) can then be used as a complement, but only few studies have focused on examinations in the second trimester. Purpose: To validate MRI as a complement to diagnose fetal anomalies in the second trimester. Material and Methods: This retrospective study retrieved data from January 2008 to July 2012 from the Fetal Medicine Unit and Department of Radiology at Uppsala University Hospital. Ultrasound and MRI findings were reviewed in 121 fetuses in relation to the final diagnosis, including postpartum follow-up and autopsy results. Results: Of the 121 fetuses, 51 (42%) had a CNS anomaly and 70 (58%) a non-CNS anomaly diagnosed or suspected. MRI provided additional information in 21% of all cases without changing the management and revealed information that changed the management of the pregnancy in 13%. When a CNS anomaly was detected or suspected, the MRI provided additional information in 22% and changed the management in 10%. The corresponding figures for non-CNS cases were 21% and 16%, respectively. The proportion of cases with additional information that changed the management was especially high in patients with a BMI >30 kg/m2 (25%) and in patients with oligohydramnios (38%). In five cases in category III, false-positive ultrasound findings were identified. Conclusions: MRI in the second trimester complements ultrasound and improves diagnosis of fetal CNS- and non-CNS anomalies especially when oligohydramnios or maternal obesity is present. [ABSTRACT FROM AUTHOR]

These guidelines follow the mission of the World Association of Perinatal Medicine, in collaboration with the Perinatal Medicine Foundation, which brings together groups and individuals worldwide, with the aim to improve prenatal detection of Central Nervous System anomalies and the appropriate referral of pregnancies with suspected fetal anomalies. In addition, this document provides further guidance for healthcare practitioners with the goal of standardizing the description of ultrasonographic abnormal findings. [ABSTRACT FROM AUTHOR]

Introduction: The aim of this study is to examine the diagnosis types and rates of patients with central nervous system (CNS) anomalies detected in the prenatal period between 2021-2022 in our perinatology clinic and to contribute to the literature. Materials and Methods: Our study included 191 patients with CNS anomaly and whose pregnancy results were reached. Demographic characteristics of the patients, additional detected anomalies, fetal Magnetic Resonance Imaging (MRI) and genetic results, o bstetric and neonatal results were evaluated if requested. Results: Neural tube defects (NTD) were found most frequently at 75.3%, and among these, acrania was found most frequently at 27.2%. While 74.3% of the detected CNS anomalies were isolated anomalies, it was found that 5.2% were accompanied by additional CNS anomalies and 21.9% were accompanied by additional extracranial anomalies. Abnormal karyotype was obtained in 12.1% of the pa tients who wanted to have a prenatal diagnosis test. It was found that 11% of the patients requested fetal MRI and ventriculomegaly was the most common fetal MRI indication. While the pregnancies of 56.5% of the patients were terminated, 37.7% of them gave live bir ths. The rate of surgical intervention in live-born babies with CNS anomalies was found to be 56.9%. A total mortality rate of 43% was found in live-born babies. Conclusion: Since CNS anomalies are associated with serious morbidity and mortality; Prenatal diagnosis is very important so that families can be offered a pregnancy termination option and those who will continue to be pregnant should be informed about the treatment and rehabilitation processes of their babies. [ABSTRACT FROM AUTHOR]

Fetal abdominal wall defects (AWDs) refer to a variety of congenital anomalies characterized by the incomplete closure or disruption of the abdominal wall in the early stages of embryonic development. Based on the 2011 European Surveillance of Congenital Anomalies (EUROCAT) report, the general prevalence of fetal abdominal wall defects is documented to be six cases per 10,000 births. AWDs pose significant challenges for prenatal diagnosis and management. Ultrasound has emerged as an indispensable tool in diagnosing and characterizing various abdominal wall defects early in pregnancy, enabling precise prenatal counseling and appropriate antenatal management strategies. This article provides a general review of the specialized literature regarding various types of abdominal wall defects, such as omphalocele, gastroschisis, pentalogy of Cantrell, bladder exstrophy, and limb body wall complex, highlighting the significant sonographic features observed during ultrasound examination. Additionally, differential diagnoses are explored, emphasizing the importance of accurately distinguishing between these conditions to ensure optimal management strategies. This article aims to enhance the understanding and familiarity of ultrasound practitioners and obstetricians with the spectrum of fetal abdominal wall defects and their prenatal sonographic appearance, thus facilitating improved prenatal care and patients’ counseling. [ABSTRACT FROM AUTHOR]

Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination. [ABSTRACT FROM AUTHOR]

AIM: The study aims to examine the effective factors influencing the decision of families to whom medical abortion was recommended due to fetal anomalies. METHODS: The cross-sectional study was conducted at İstanbul University Hospital, Department of Gynecology and Obstetrics, High-Risk Pregnancies and Maternity Ward. The sample consisted of 233 pregnant women, to whom medical abortion was recommended due to the diagnosis of foetal anomaly collected inover a 1-year period. RESULTS: While 122 of the families decided to have medical abortions, 111 decided to give birth. The rate of deciding on medical abortion was the highest in families whose fetuses had a high expectation rate of lethal anomalies (p < .001). The most effective factor for the families who decided to give birth was their religious beliefs. The most effective factor for the families who decided to have a medical abortion was the information they received from health professionals. CONCLUSION: While the religious beliefs of the parents were effective in the decision to give birth, the information they received from the health professionals was effective in the decision to have a medical abortion. [ABSTRACT FROM AUTHOR]

Birth defects (BD) are an important cause of neonatal mortality and can be associated with premature birth. The study aimed to develop a prognostic model for congenital malformations in mothers with a history of preterm delivery, using logistic regression analysis. The study included 665 mothers of children with BD, of which 432 (65%) had a history of preterm delivery (main group), and 233 (35%) had term delivery (control group). Variables examined included pregnancy history, genetic factors, and biochemical markers. Statistical analysis found significant associations between BD and preterm delivery, intrauterine malformations, miscarriages, MTHFR polymorphism, and HLA antigens. The logistic model showed good predictive performance. The area under the ROC curve was 0.769 for pregnancy history, 0.699 for miscarriages, and 0.630 for intrauterine malformations, indicating moderate predictive ability. A statistical relationship was found between BD risk and pregnancy history, intrauterine malformations, miscarriages, and genetic factors. The resulting logistic model may help predict BD risk in mothers with a preterm delivery history. [ABSTRACT FROM AUTHOR]

Purpose Design Results Conclusions Comparison of intracytoplasmic sperm injection cycles with testicular sperm extraction in obstructive azoospermia and non‐obstructive azoospermia are limited, and few studies have addressed obstetric and neonatal outcomes.This study analyzed couples who underwent testicular sperm extraction–intracytoplasmic sperm injection cycles for obstructive azoospermia and non‐obstructive azoospermia to determine whether impaired spermatogenesis in non‐obstructive azoospermia patients would lead to worse reproductive outcomes and higher rates of pregnancy complications and fetal anomalies. This study is a retrospective, single‐center analysis of all testicular sperm cycles performed between January 1, 2001 and December 31, 2020.A total of 392 couples were considered in the study, leading to 1066 induction cycles, 620 (58.2%) from patients with obstructive azoospermia and 446 (41.8%) from non‐obstructive azoospermia. The cumulative delivery rate did not significantly differ between the two groups (34% vs. 31%; p = 0.326). The miscarriage rate was similar between obstructive azoospermia and non‐obstructive azoospermia patients. Fertilization rate instead showed a statistically significant difference (obstructive azoospermia: 66.1 ± 25.7 vs. non‐obstructive azoospermia: 56.1 ± 27.0; p < 0.001). The overall maternal complication rate in the non‐obstructive azoospermia group was higher (10.7% vs. 18.4%; p = 0.035), but there was no statistical significance for each pathology. There was no statistical difference in gestational age between the two groups for both single and twin pregnancies. Seven cases of congenital defects occurred in the obstructive azoospermia group, while two cases occurred in the non‐obstructive azoospermia group.Despite impaired spermatogenesis in non‐obstructive azoospermia patients, there were no substantial differences in reproductive outcomes compared to patients with obstructive azoospermia, even in terms of obstetric safety and neonatal well‐being. [ABSTRACT FROM AUTHOR]

Bladder exstrophy is a rare congenital condition of the pelvis, bladder, and lower abdomen that opens the bladder against the abdominal wall, produces aberrant growth, short penis, upward curvature during erection, wide penis, and undescended testes. Exstrophy affects 1/30,000 newborns. The bladder opens against the abdominal wall in bladder exstrophy, a rare genitourinary condition. This study is vital to provide appropriate therapy choices as a basis to improve patient outcomes. This study may explain bladder exstrophy and provide treatment. Epispadias, secretory placenta, cloacal exstrophy, and other embryonic abnormalities comprise the exstrophy-spades complex. The mesenchymal layer does not migrate from the ectoderm and endoderm layers in the first trimester, affecting the cloacal membrane. Embryological problems define the exstrophy-aspidistra complex, which resembles epimedium, classic bladder, cloacal exstrophy, and other diseases. Urogenital ventral body wall anomalies expose the bladder mucosa, causing bladder exstrophy. Genetic mutations in the Hedgehog cascade pathway, Wnt signal, FGF, BMP4, Alx4, Gli3, and ISL1 cause ventral body wall closure and urinary bladder failure. External factors such as high maternal age, smoking moms, and high maternal body mass index have also been associated to bladder exstrophy. Valproic acid increases bladder exstrophy risk; chemicals and pollutants during pregnancy may increase bladder exstrophy risk. Bladder exstrophy has no identified cause despite these risk factors. Exstrophy reconstruction seals the bladder, improves bowel function, reconstructs the vaginal region, and restores urination. [ABSTRACT FROM AUTHOR]

Timely identification of fetal conditions enables comprehensive evaluation, counseling, postnatal planning, and prenatal treatments. This study assessed the existing evidence on how social determinants of health (SDOH) influence diagnosis timing of fetal conditions appropriate for care in fetal care centers (FCCs). Eligible studies were conducted in the U.S. and published in English after 1999. We employed the Healthy People 2020 SDOH framework to categorize and analyze data from 16 studies, where 86% focused solely on congenital heart disease (CHD). Studies primarily focused on individual-level SDOH, with only 36% addressing structural-level factors. A total of 31 distinct indicators of SDOH were identified, with 68% being unique to individual studies. Indicators often varied in definition and specificity. Three studies covered all five SDOH categories in the Healthy People 2020 Framework. Studies revealed varying and often conflicting associations with SDOH indicators, with race and ethnicity being the most explored (100%), followed by socioeconomic status (69%), maternal age (57%), residence (43%), and structural factors (29%). Our findings highlight the need for more comprehensive research, including conditions beyond CHD, and the establishment of consensus on indicators of SDOH. Such efforts are necessary to gain a deeper understanding of the underlying factors driving disparities in fetal diagnosis and treatment.

Introduction: CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. Method and Case Report: Trio‐whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). Results: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke‐Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke‐Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra‐uterine growth retardation, brain, and cardiovascular anomalies. Conclusion: Menke‐Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke‐Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging. [ABSTRACT FROM AUTHOR]

PurposeTo report the rate of fetal anomalies detected on anatomy ultrasound in pregnant patients who underwent IVF with preimplantation genetic testing for aneuploidy (PGT-A) compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions.MethodsRetrospective cohort study at a single maternal-fetal medicine practice. Patients with singleton pregnancies who had a mid-trimester anatomy ultrasound between January 2017 and December 2018 were screened for inclusion. A total of 712 patients who conceived after IVF with or without PGT-A were age-matched with natural conception controls. The primary outcome was the rate of fetal and placental anomalies detected on mid-trimester anatomical survey. Secondary outcomes included the rates of abnormal nuchal translucency (NT), second trimester serum analytes, non-invasive prenatal testing (NIPT), and invasive diagnostic testing.Result(s)There were no differences in the rate of fetal anomalies in patients who underwent IVF with PGT-A compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions. Rate of abnormal NT, high-risk NIPT, and abnormal invasive diagnostic testing were also similar. Patients who conceived after IVF with or without PGT-A had higher rates of abnormal placental ultrasound findings and abnormal second trimester serum analytes compared to natural conception controls.ConclusionThe use of PGT-A was not associated with a difference in risk of fetal anomaly detection on a mid-trimester anatomical survey. The results of this study highlight the importance of improved patient counseling regarding the limitations of PGT-A, and of providing standard prenatal care for pregnancies conceived through ART, regardless of whether PGT-A was performed.

Abstract Introduction CREBBP truncating mutations and deletions are responsible for the well‐known Rubinstein‐Taybi syndrome. Recently, a new, distinct CREBBP‐linked syndrome has been described: missense mutations located at the 3′ end of exon 30 and the 5′ portion of exon 31 induce Menke‐Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and/or kyphosis. To date, all diagnoses were made postnatally. Method and Case Report Trio‐whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28 weeks of gestation (WG). Results WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke‐Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke‐Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra‐uterine growth retardation, brain, and cardiovascular anomalies. Conclusion Menke‐Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C>T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke‐Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.

Objective: To know the prevalence of congenital anomalies in foeti on antenatal ultrasonography and role of preconceptual folic acid intake in preventing development of neural tube defects. Study Design: Cross-sectional Descriptive study. Setting: Department of Pediatric Surgery, Mayo Hospital, Lahore. Period: January 2022 to September 2022. Material & Methods: The data of 57 patients was collected, who were referred to Pediatric Surgery Department of Mayo Hospital, Lahore from lady Wallington Hospital and Lady Aitchison Hospital, with fetal anomaly detected on antenatal scan. Women with pregnancy in second and third trimester, ranging in age from 20 to 45 years, were enrolled in the study. A questionnaire was used to collect the data. We analyzed the data of study usingSPSS 20(Statistical Package for Social Sciences version 20). Results: Data analysis showed higher incidence (34%) of anomalies of central nervous system including neural tube defects. 89% (51/57) women had not taken preconceptual folic acid supplements. Consanguinity was also noted to be an important factor and significant correlation was seen 70% (40/57). Conclusion: The incidence of central nervous system anomalies including neural tube defects was higher (34%) among all anomalies. This might be probably due to preconceptual deficiency of folic acid. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study is to compare the prenatal ultrasonography (US) and the autopsy findings of the fetuses of 12–24th gestational weeks. Methods: This retrospective study comprises 84 fetuses autopsied. The correlation between US and autopsy findings was classified into four categories: (A) Compatible, (B) Minor findings added, (C) Major findings added, and (D) Incompatible. Results: Malformations were the most common medical termination indication. The most frequent findings at autopsy were multiple system findings followed by central nervous system. Prenatal US and autopsy findings were completely compatible in 48 fetuses (57.1%), while additional minor and major autopsy findings were found in 26 (31.0%) and 4 (4.8%), respectively. Autopsy and US findings were incompatible in 6 fetuses (7.1%). Conclusion: Prenatal ultrasound and fetal autopsy are complementary tools to obtain detailed and complete diagnosis of fetal anomalies and fetal autopsy is still a valuable tool to obtain further diagnostic information. [ABSTRACT FROM AUTHOR]

The sonographic findings in four fetuses presenting with ventriculomegaly at first‐trimester ultrasound that were subsequently diagnosed as having agenesis of the corpus callosum (ACC) are described. The diagnosis of early ventriculomegaly was suspected subjectively by identification of increased cerebrospinal fluid within the lateral ventricles and confirmed by measuring choroid plexus‐to‐lateral ventricle length and area ratios. Subsequent scans revealed complete ACC in two cases and partial ACC in the other two. This report adds to the increasing evidence suggesting that first‐trimester ventriculomegaly is a strong sonographic marker of underlying brain anomalies, including less evident malformations such as ACC. Detailed second‐trimester fetal neurosonography in those women continuing their pregnancies should be performed. [ABSTRACT FROM AUTHOR]

Abstract Background Pregnant women with suspected fetal anomalies experience a great deal of stress following prenatal screening tests. The present study aimed to investigate women's worries about prenatal screening tests suspected of fetal anomalies. Methods Through the use of qualitative content analysis, the reports of women whose prenatal screening tests were suspected of fetal anomalies were analyzed and the results were interpreted. The participants were selected from four public and private maternity care clinics of Babol, Iran, from December 2021 to January 2022, using targeted convenience sampling. Data were collected from 20 women aged 24 to 41 years old, who underwent prenatal screening tests and were suspected of fetal anomalies, using semi-structured face-to-face interviews. Results The four main themes included the "causes of worries" (with sub-themes of challenge with spouse and relatives, medical diagnosis processes, previous unpleasant experiences, physical and mental problems, financial worries, and misinformation), "anxiety-coping styles" (with cognitive emotion-oriented, behavioral emotion-oriented, and problem-oriented sub-themes), "reactions to a possible diagnosis of anomaly" (with three sub-themes, namely concealment, extreme fear and worry, and denial), and "attribution of the cause of the anomaly" (with sub-themes of consanguine marriage, evil eyes, tendency to have a baby of a particular gender, a history of anomalies in the previous child, the spouse's medical illness, unplanned pregnancy, and high maternal anxiety). Conclusion Women with suspected fetal anomalies experience a great deal of stress, the most important reason for which is the "physician’s uncertainty". "Sharing worries with relatives" was the most common style of coping with worries. Establishing emotional support and empathetic communication between midwives and physicians with pregnant women suspected of fetal anomalies were important ways to reduce their worries.

Abstract Background Screening programmes aim to identify individuals at higher risk of developing a disease or condition. While globally, there is agreement that people who attend screening should be fully informed, there is no consensus about how this should be achieved. We conducted a mixed methods study across eight different countries to understand how countries address informed choice across two screening programmes: breast cancer and fetal trisomy anomaly screening. Methods Fourteen senior level employees from organisations who produce and deliver decision aids to assist informed choice were interviewed, and their decision aids (n = 15) were evaluated using documentary analysis. Results We discovered that attempts to achieve informed choice via decision aids generate two key tensions (i) between improving informed choice and increasing uptake and (ii) between improving informed choice and comprehensibility of the information presented. Comprehensibility is fundamentally at tension with an aim of being fully informed. These tensions emerged in both the interviews and documentary analysis. Conclusion We conclude that organisations need to decide whether their overarching aim is ensuring high levels of uptake or maximising informed choice to participate in screening programmes. Consideration must then be given to all levels of development and distribution of information produced to reflect each organisation’s aim. The comprehensibility of the DA must also be considered, as this may be reduced when informed choice is prioritised.

Abstract Background Recent advances in prenatal screening and diagnosis have resulted in an increasing number of women receiving a diagnosis of fetal anomalies. In this study, we aimed to clarify the hopes for childbirth and parenting of women diagnosed with fetal anomalies and to suggest a family-centered care tailored for this situation in perinatal settings. Methods A descriptive qualitative study was performed. We recruited women diagnosed with fetal anomalies who were over 22 years old, beyond 22 weeks of gestation, and had scheduled pregnancy and delivery management at a tertiary perinatal medical center specializing in neonatal and pediatric care in a metropolitan area of Japan from April 2019 to December 2019. Women who were willing to participate received support from a midwife to create birth plans. Data were collected from the documented birth plans submitted by 24 women and analyzed using content analysis. Results We identified three themes of women’s hopes based on the descriptions of the submitted birth plans: (1) Hopes as women who are expecting childbirth, (2) Hopes as mothers of a baby, (3) Hopes of being involved in the family needs. Several distinctive hopes were clarified in the context of the women’s challenging situations. In describing their hopes, the women were neither overoptimistic or overstated their actual situations, nor caused embarrassment to the healthcare providers. The importance of supporting their involvement in baby matters in the way each family wants also emerged. However, several barriers to fulfilling the women’s hopes were identified including the babies’ conditions and hospital regulations against family visits or presence. Conclusion All three themes identified in the study provide important insights for analyzing more deeply ways of implementing a family-centered care for women diagnosed with fetal anomalies in perinatal settings. To improve women’s engagement in decision-making as a team member, women’s hopes should be treated with dignity and respect, and included in the perinatal care of women with abnormal fetuses. Further research is needed to improve the inclusion of women’s hopes in their care in clinical settings. Trial registration UMIN Clinical Trials Registry: UMIN000033622 (First registration date: 03/08/2018).

Introduction: Prenatal counseling about maternal-fetal surgery can be traumatic and confusing for pregnant people. It can also be technically and emotionally complex for clinicians. As maternal-fetal surgery rapidly advances and becomes more common, more evidence is needed to inform counseling practices. The objective of this study was to develop a deeper understanding of the methods clinicians currently use to train for and provide counseling, as well as their needs and recommendations for future education and training. Methods: We used interpretive description methods and interviewed interprofessional clinicians who regularly counsel pregnant people about maternal-fetal surgery. Results: We conducted 20 interviews with participants from 17 different sites who were maternal-fetal medicine specialists (30%), pediatric surgeons (30%), nurses (15%), social workers (10%), a genetic counselor (5%), a neonatologist (5%), and a pediatric subspecialist (5%). Most were female (70%), non-Hispanic white (90%), and practiced in the Midwest (50%). We identified four overarching themes: (1) contextualizing maternal-fetal surgery counseling; (2) establishing shared understanding; (3) supporting decision-making; and (4) training for maternal-fetal surgery counseling. Within these themes, we identified key practice differences among professions, specialties, institutions, and regions. Conclusion: Participants are committed to practicing informative and supportive counseling to empower pregnant people to make autonomous decisions about maternal-fetal surgery. Nevertheless, our findings indicate a dearth of evidence-based communication practices and guidance. Participants identified significant systemic limitations affecting pregnant people's decision-making options related to maternal-fetal surgery. [ABSTRACT FROM AUTHOR]

The long-term monitoring of a fetus with genetic and non-genetic anomalies is still a challenge for prenatal medicine. Ultrasound screening must be based on some measurement ranges, which show the trend of development of fetal body parts in a given period of time. One of them is the fetal ear auricle. This study presents an analysis of the fetal ear auricle length in healthy fetuses to establish normal ranges of fetal ear auricle length. The study group included 132 healthy fetuses. The gestational age of healthy fetuses ranged from 17.0 to 39.5 weeks of gestation according to LMP. The range of fetal ear length measurement was 10.00–40.00 mm with an average value of 23.49 mm. In the group of fetuses in the second trimester of pregnancy, the range of fetal ear length measurement was 18.00–28.00 mm, whereas in the group of fetuses in the third trimester of pregnancy, the range was 16.00–40.00 mm. In order to check the usefulness of this parameter, an analysis of this marker in fetuses with extracardiac anomalies, including genetic and non-genetic disorders is shown. The fetal ear measurement can fall within the normal range even if there are some genetic or non-genetic disorders. Therefore, the fetal ear measurement does not provide any diagnostic value in terms of detecting any fetal genetic and non-genetic disorders, which is supported by the analysis of the data provided in this study. Our study has proved that measurement of the fetal ear auricle is possible; however, its clinical usefulness for perinatal management is currently very limited. [ABSTRACT FROM AUTHOR]

Maternal urogenital infections during pregnancy are worldwide frequent problem. The aim was to analyze influence of maternal genitourinary infection on fetal cardiac function, pregnancy development and obstetrical outcomes. This was a single-center cohort study on fetuses (average at 28th week) in two groups: with maternal urogenital infections (study group n=49) and control group with no infections (n=59). Parvovirus B19, toxoplasmosis, cytomegalovirus, herpes simplex infections, congenital malformations, fetal growth restriction, chronic maternal diseases, as well as patients with body mass index (BMI) >25 kg/m2 were excluded. We analyzed: maternal age, time of delivery, neonatal birth weight, Apgar scores, average time of hospitalization of newborns after birth and several fetal echocardiographic parameters. The only statistical differences was found for shorter isovolumetric relaxation time (IRT) (40 ± 10 vs. 45 ± 9; p=0.03) and longer ejection time (ET) [ms] for right ventricle (RV) (176 ± 24 vs. 164 ± 18; p=0.01). Thick placenta was observed more frequent in study group than in controls (36.7 vs. 16.9%; p= 0.02). The missing link for explanation of these findings was coincidence with thick placenta. This is probably the first observation suggesting that thick placenta (>5 cm) may affect fetal RV function in normal heart anatomy: prolongation of right ventricular ET and shortening of fetal right ventricular IVRT. [ABSTRACT FROM AUTHOR]

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Objective: To determine the diagnostic accuracy of polyhydramnios for detecting fetal anomalies on ultrasound in singleton pregnancies. Study Design: Cross-sectional study. Place and Duration of Study: Armed Forces Institute of Radiology and Imaging, Military Hospital, Rawalpindi Pakistan, from Oct 2018 to Apr 2019. Methodology: A total of 145 pregnant females coming for antenatal/anomaly scans, aged 18 to 45 years, were included. All scans were obtained with a 3.5-5 MHz curvilinear transducer and obstetric settings of the ultrasound machine. AFI was calculated as the sum of the deepest, unobstructed, vertical length of each pocket of fluid measured in cm in all four quadrants and then added to the others. The radiologist observed fetal structural anomalies. Results: Polyhydramnios was present in 15(10.34%) patients. The congenital fetal anomaly on ultrasound was present in 6(4.14%) cases. In polyhydramnios-positive patients, 05(3.4%) had a congenital fetal anomaly, and 10(6.8%) had no congenital fetal anomaly. Among 130 polyhydramnios-negative patients, 01(0.7%) had a congenital fetal anomaly, whereas 129(88.9%) had no congenital fetal anomaly. Overall sensitivity, specificity, positive predictive value, negative predictive value and diagnostic accuracy of polyhydramnios for detecting fetal anomalies on ultrasound were 83.33%, 91.41%, 29.4%, 99.23% and 92.41%, respectively. Conclusion: This study concluded that the diagnostic accuracy of polyhydramnios¸, significantly moderate to severe forms, is relatively high for detecting fetal anomalies on ultrasound. Keywords: Fetal anomalies, Polyhydramnios, Ultrasonography.

Objective: Osteogenesis Imperfecta (OI) is a rare genetic disease group consisting of defects in collagen synthesis. This disease is characterized by alteration of connective tissue structure of exposed patients, usually caused by mutation of type I collagen. Altered connective tissue structure leads to low bone mineral density, defective bone structure and strength, and multiple fractures, which are usually obtained after low-impact trauma.[1] It is a rare disease that is seen in 0.5-1 per 10000 live births in general.[2] There are several types of OI, type I being the mildest form of OI, which is usually asymptomatic, sometimes with scoliosis due to compression fractures of the vertebrae in adults. Type II is the most severe form and is generally incompatible with life, while type III is the most severe form in surviving patients.[2-4] OI is inherited in an autosomal dominant manner and heterozygous mutation in one of the COL1A1 or COL1A2 genes is the cause in more than 90% of cases. [2,5] Type III constitutes 5% of all OI cases.[5] With this case report, we aimed to present the antenatal findings and clinical management of an OI type III case diagnosed during the antenatal period. Methods: Computer-based and ultrasonography records of a case of osteogenesis imperfecta who applied to the Perinatology outpatient clinic of Prof. Dr. Cemil Taşçıoğlu City Hospital at the 8th week of pregnancy were retrospectively scanned from the hospital system and the history of the ultrasonography device. Fetal ultrasonography examination was performed using Mindray Resona 7 device and its 1.2-6 MHz convex abdominal probe. Ultrasonography findings and patient history were noted. Case: A 40-year-old primagravid patient who became pregnant by in vitro fertilization first applied to our clinic for an 11-14 week ultrasound examination at 14 weeks of age. In the patient's anamnesis, it was learned that he had a brain aneurysm 2 years ago and had hypothyroidism. The result of the non-invasive prenatal test performed by the patient in an external center was reported as normal. In the ultrasound examination of the patient at the 14th week, hypomineralization was observed in the skull bones (Figure 1). It was observed that the head shape was deformed by the compression of the ultrasound probe. Osteogenesis imperfecta, hypophosphatasia and achondrogenesis were considered as the differential diagnosis in the patient. The patient was informed and called for follow-up 2 weeks later. In the ultrasound examination performed at the 16th week, hypomineralization was observed in the skull bones, the mineralization of the vertebral column was normal, shortness in all long bones, contractures in the hands and feet, and short costa were observed (Figure 2). The family was informed about amniocentesis and amniocentesis was performed. A heterozygous variant in the COL1A1 gene was detected in the fetus in wholeexome sequencing analysis, and this variant was reported as a pathogenic variant associated with Osteogenesis Imperfecta Type 3. The family decided to terminate. Termination was performed at 20 weeks (Figure 3,4). The patient, who had no bleeding or complaints after termination, was discharged with recommendations. Results: OI is a persistent connective tissue disease with autosomal dominant inheritance. OI Type III is shown as the most severe form in survivors.[2] Although there are treatment options such as pamidronate, zolidronate or risedronate in the postnatal period, these patients are faced with nearly 100 bone fractures and the necessity of many operations both during birth and until adolescence. For these reasons, the family should be informed in detail about the prognosis and possible risks in patients diagnosed with OI Type III, who were diagnosed with invasive diagnostic tests during the antenatal period, and the decision to continue or terminate the pregnancy should be made and managed together. [ABSTRACT FROM AUTHOR]

Abstract Background The rate of termination of pregnancy (TOP) for fetal anomalies and the factors affecting TOP vary among different populations. Optimisation of prenatal care and counselling requires understanding the factors influencing parental decisions in the relevant population. This study aimed to evaluate the rate of TOP after diagnoses of major fetal anomalies and assess factors associated with TOP-related decisions at a university hospital in Thailand. Methods A retrospective chart review was conducted at the Fetal Anomaly Clinic of Ramathibodi Hospital, Bangkok, Thailand. Medical records of all women with singleton pregnancies prenatally diagnosed with major fetal anomalies before 24 gestational weeks between 2010 and 2020 were reviewed. Results During the study period, 461 cases of major fetal anomalies were diagnosed, and 264 (57.3%) of these pregnancies were terminated. Three factors influencing parental TOP decisions were lethal anomalies (odds ratio [OR], 197.39; 95% confidence interval [CI], 49.95–779.95; p

Aim: We assessed the feasibility of the Birth and Parenting Planning (BPPing) program we developed to support women diagnosed with fetal anomalies. Methods: We conducted a feasibility study using a quasi‐experimental, post‐test only, non‐equivalent groups design. We assessed feasibility from four aspects: (1) Demand: birth plan submitting rate (primary outcome); (2) Acceptability: woman's satisfaction of care scale (SATISFACTION) and Visual Analog Scale for care satisfaction; (3) Preliminary efficacy: women's recognition of being able to express and share her hopes scale (HOPES); and (4) Safety: obstetric/neonatal outcomes and frequency of women's referral to a psychological counselor. Fisher's exact test and Mann–Whitney U‐test were used for data analysis. Results: We enrolled 62 women with fetal anomalies attending a perinatal medical center for antenatal check‐ups. Of these, 51 women (median age: 34 years) received either the BPPing program (intervention group: n = 25) or the usual care (control group: n = 26). The birth plan submitting rates were 96% (intervention group, 24/25) and 7.7% (control group, 2/26). The intervention group had a significantly higher total score on HOPES at postpartum (U = 441.5, p = 0.027). Upon subgroup analysis based on parity, in the intervention group only, the multiparas had a higher score on the SATISFACTION item, "I would recommend the care I received to someone in a similar situation". There were no adverse events in either group. Conclusion: The BPPing program was feasible in supporting women diagnosed with fetal anomalies in terms of demand, acceptability, preliminary efficacy, and safety. [ABSTRACT FROM AUTHOR]