Psychological sequelae following second-trimester termination of pregnancy: A longitudinal study.

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.

The Role of Midwives in US Perinatal Palliative Care: A Scoping Review.

INTRODUCTION: Perinatal palliative care (PPC) is a rapidly growing and essential reproductive health care option for pregnant persons with a diagnosed life-limiting fetal condition who continue their pregnancy. The provision of PPC is within the scope of basic midwifery competencies, and midwives are well-positioned to make unique and valuable contributions to interprofessional PPC teams. However, little is known about midwives' past or current involvement in PPC in the United States. METHODS: This scoping review of the literature investigated what is known about the role of midwives in PPC in the United States. Multiple databases of published literature were used for this review: PubMed, CINAHL, Embase, Web of Science, ProQuest, Google Scholar, and relevant citations from identified studies. All types of English language publications addressing midwives' involvement in PPC in the United States were included, without any limitations on publication date. RESULTS: The role and contributions of midwives in PPC is not well represented in existing literature. Of the 259 results identified, 7 publications met criteria for inclusion. These included 5 case reports, one quantitative research article, and one conference abstract. Midwives are involved in PPC through the provision of direct clinical care (including antepartum, intrapartum, postpartum, neonatal, bereavement, postmortem, and follow-up care) and care planning and coordination as part of an interprofessional team. DISCUSSION: Despite midwives being uniquely positioned to provide holistic, family-centered, and person-centered care in situations of pregnancy with life-limiting fetal conditions, there is limited literature about their involvement in PPC in the United States. PPC should be incorporated into midwifery education and training programs. Midwives should play a central role in shaping future research and policies to ensure the accessibility and quality of PPC.

Acute symptoms of depression and traumatic stress in men and women who terminate pregnancy after the detection of fetal anomaly: A prospective observational study.

OBJECTIVE: To assess acute and long-term stress in men and women after the detection of fetal anomalies leading to pregnancy termination. DESIGN: Prospective observational study. SETTING: Tertiary referral centre for fetal medicine. POPULATION: From the initial sample of 180 pregnant women with a fetal anomaly detected by ultrasound examination, a total of 87 women terminated their pregnancy, with 72 partners included in the sample. At the time of detection, the group of women (n = 93) and their partners (n = 81) who did not terminate the pregnancy following a diagnosis were included as a comparison group. METHODS: These women and their partners were asked to complete the Edinburgh Postnatal Depression Scale (EPDS) and the Impact of Events Scale (IES) questionnaires, both at the time of initial detection and at 6 weeks after the termination of the pregnancy. MAIN OUTCOME MEASURES: Responses to the EPDS and the IES at the time of initial detection and at 6 weeks after pregnancy termination. RESULTS: Women who underwent pregnancy termination reported higher symptom levels of depression, but not traumatic stress, prior to the termination than women who chose not to terminate their pregnancy. Among men, there was a difference across depression and all subscales of traumatic stress (e.g. IES intrusion: mean difference 5.31; 95% CI 2.32-8.31). Women experienced more depressive symptoms over time than men (ß = 4.33, P < 0.001) and higher symptom levels on all subscales of traumatic stress (e.g. IES intrusion: ß = 5.27; P < 0.001). CONCLUSIONS: Overall, our study underscores the heightened levels of depression and traumatic stress experienced by prospective parents, particularly prior to the decision to terminate a pregnancy following the detection of a fetal anomaly. Although women generally report more pronounced symptoms, it is noteworthy that men also experience considerable traumatic stress during this challenging time.

Amniocentesis in pregnancies at or beyond 24 weeks: An international multicenter study.

BACKGROUND: Amniocentesis for genetic diagnosis is most commonly done between 15 and 22 weeks of gestation, but can be performed at later gestational ages. The safety and genetic diagnostic accuracy of amniocentesis have been well-established through numerous large-scale, multicenter studies for procedures before 24 weeks, but comprehensive data on late amniocentesis remain sparse. OBJECTIVES: To evaluate the indications, diagnostic yield, safety, and maternal and fetal outcomes associated with amniocentesis performed at or beyond 24 weeks of gestation. STUDY DESIGN: We conducted an international, multicenter retrospective cohort study examining pregnant individuals who underwent amniocentesis for prenatal diagnostic testing at gestational ages between 24w0d and 36w6d. The study, spanning from 2011 to 2022, involved nine referral centers. We included singleton or twin pregnancies with documented outcomes, excluding cases where other invasive procedures were performed during pregnancy or if amniocentesis was conducted for obstetric indications. We analyzed indications for late amniocentesis, types of genetic tests performed, their results, and the diagnostic yield, along with pregnancy outcomes and post-procedure complications. RESULTS: Of the 752 pregnant individuals included in our study, late amniocentesis was primarily performed for the prenatal diagnosis of structural anomalies (91.6%), followed by suspected fetal infection (2.3%) and high-risk findings from cell-free DNA screening (1.9%). The median gestational age at the time of the procedure was 28w5d, and 98.3% of pregnant individuals received results of genetic testing before birth or pregnancy termination. The diagnostic yield was 22.9%, and a diagnosis was made 2.4 times more often for fetuses with anomalies in multiple organ systems (36.4%) compared to those with anomalies in a single organ system (15.3%). Additionally, the diagnostic yield varied depending on the specific organ system involved, with the highest yield for musculoskeletal anomalies (36.7%) and hydrops fetalis (36.4%) when a single organ system or entity was affected. The most prevalent genetic diagnoses were aneuploidies (46.8%), followed by copy number variants (26.3%) and monogenic disorders (22.2%). The median gestational age at delivery was 38w3d, with an average of 59 days between the procedure and delivery date. The overall complication rate within two weeks post-procedure was 1.2%. We found no significant difference in the rate of preterm delivery between pregnant individuals undergoing amniocentesis between 24-28 weeks and those between 28-32 weeks, reinforcing the procedure's safety across these gestational periods. CONCLUSIONS: Late amniocentesis, at or after 24 weeks gestation, especially for pregnancies complicated by multiple congenital anomalies, has a high diagnostic yield and a low complication rate, underscoring its clinical utility. It provides pregnant individuals and their providers with a comprehensive diagnostic evaluation and results before delivery, enabling informed counseling and optimized perinatal and neonatal care planning.

Incidental Finding of Ante-natal Fetal Neck Mass With Post-delivery Imaging and Follow-Up.

Most fetal anomalies can be detected during the second trimester of chromosomal anomaly screening. However, even an experienced sonographer might fail to notice a fetal neck mass during this screening and would be diagnosed at a later point in time. In this case report, we have followed up on an incidentally detected case of fetal neck mass on antenatal sonography with post-delivery ultrasound and contrast-enhanced computed tomography.

Dolutegravir and Folic Acid Interaction during Neural System Development in Zebrafish Embryos.

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.

European association of perinatal medicine (EAPM) position statement: Screening, diagnosis and management of congenital anomalies of the umbilical cord.

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.

Magnetic resonance imaging in the second trimester as a complement to ultrasound for diagnosis of fetal anomalies.

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.

Medical Implications of Restricting Abortions on Women Diagnosed With Fetal Anomalies Following the Overturn of Roe v. Wade: A Scoping Review.

This scoping review addresses the potential maternal health outcomes of abortion restrictions in the U.S. by studying and analyzing the reported effects of abortion bans or limitations globally. The goal was to examine the medical implications for pregnant women who are unable to abort fetuses that have severe medical anomalies due to imposed restrictions. EMBASE, Medline, and CINAHL databases were searched for studies published in English concerning the medical implications of abortion restrictions in any country prior to the overturn of Roe v. Wade in 2022. For the search criteria using Boolean operators, keywords included the terms "fetal anomaly," "abortion ban," and "implications." Inclusion criteria incorporated studies published between 1980 and 2021, and controlled experimental research studies aimed to evaluate interventions were excluded. This resulted in 469 records initially found. Duplicate records were removed, and two separate tier reviews were conducted. Eleven reviewers independently screened abstracts and titles of 332 records to ascertain eligibility. Eligibility included pregnant women diagnosed with fetal anomalies, women denied access to safe abortions, and the maternal and fetal medical impacts of this. Three reviewers in the second screening independently read 36 full articles to further assess eligibility, resulting in 14 articles in the final review. Findings from this study showed that abortion bans in countries around the world have led to health complications in women seeking illegal abortion services, a decline in maternal mental health, including stress and depression, various medical complications such as obstructed labor, and an increase in high-risk fetuses born with severe deficits. The findings of this review portend similar negative consequences to be experienced by women who are subject to stricter abortion laws in the U.S.

Prenatal Diagnosis by Trio Clinical Exome Sequencing: Single Center Experience.

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.

Perinatal outcomes between immediate vs deferred selective termination in dichorionic twin pregnancies with fetal congenital anomalies: a French multicenter study.

BACKGROUND: Because selective termination for discordant dichorionic twin anomalies carries a risk of pregnancy loss, deferring the procedure until the third trimester can be considered in settings where it is legal. OBJECTIVE: To determine whether perinatal outcomes were more favorable following deferred rather than immediate selective termination. STUDY DESIGN: A French multicenter retrospective study from 2012 to 2023 on dichorionic twin pregnancies with selective termination for fetal conditions, which were diagnosed before 24 weeks gestation. Pregnancies with additional risk factors for late miscarriage were excluded. We defined 2 groups according to the intention to perform selective termination within 2 weeks after the diagnosis of the severe fetal anomaly was established (immediate selective termination) or to wait until the third trimester (deferred selective termination). The primary outcome was perinatal survival at 28 days of life. Secondary outcomes were pregnancy losses before 24 weeks gestation and preterm delivery. RESULTS: Of 390 pregnancies, 258 were in the immediate selective termination group and 132 in the deferred selective termination group. Baseline characteristics were similar in both groups. Overall survival of the healthy co-twin was 93.8% (242/258) in the immediate selective termination group vs 100% (132/132) in the deferred selective termination group (P<.01). Preterm birth <37 weeks gestation was lower in the immediate than in the deferred selective termination group (66.7% vs 20.2%; P<.01); preterm birth <28 weeks gestation and <32 weeks gestation did not differ significantly (respectively 1.7% vs 0.8%; P=.66 and 8.26% vs 11.4%; P=.36). In the deferred selective termination group, an emergency procedure was performed in 11.3% (15/132) because of threatened preterm labor, of which 3.7% (5/132) for imminent delivery. CONCLUSION: Overall survival after selective termination was high regardless of the gestational age at which the procedure was performed. Postponing selective termination until the third trimester seems to improve survival, whereas immediate selective termination reduces the risk of preterm delivery. Furthermore, deferred selective termination requires an expert center capable of performing the selective termination procedure on an emergency basis if required.

Clinical Practice Guidelines and Recommendations by the World Association of Perinatal Medicine and Perinatal Medicine Foundation: Reporting Suspected Findings from Fetal Central Nervous System Examination.

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.

Stillbirth risk factors, causes and evaluation.

Stillbirth impacts 5.73 per 1,000 births in the United States and this rate exceeds that of contemporary high-resource countries.1,2 Risk factors include both demographic and medical characteristics. There are also numerous pathophysiologic mechanisms that can lead to stillbirth. Unfortunately, these risk factors are fairly common, making stillbirth risk stratification and prevention challenging. This is due in part to a large number of unexplained stillbirths. In a large, multi-center study of stillbirths, approximately 24% of stillbirths remained unexplained following thorough, standardized evaluation.3 The number of unexplained stillbirths is unquestionably larger outside of a rigorous study protocol, but real-world data are lacking. This large proportion of unexplained stillbirth cases makes achieving further decreases in the stillbirth rate difficult given lack of understanding of underlying causes in this population. Cause of death identification can be improved with adoption of an evidence-based, comprehensive stillbirth evaluation.

Clinical implications of crown-rump length discordance at 11 to 14 weeks in dichorionic twins.

BACKGROUND: Crown-rump length discordance, defined as ≥10% discordance, has been investigated as an early sonographic marker of subsequent growth abnormalities and is associated with an increased risk of fetal loss in twin pregnancies. Previous studies have not investigated the prevalence of fetal aneuploidy or structural anomalies in twins with discordance or the independent association of crown-rump length discordance with adverse perinatal outcomes. Moreover, data are limited on cell-free DNA screening for aneuploidy in dichorionic twins with discordance. OBJECTIVE: This study aimed to evaluate whether crown-rump length discordance in dichorionic twins between 11 and 14 weeks of gestation is associated with a higher risk of aneuploidy, structural anomalies, or adverse perinatal outcomes and to assess the performance of cell-free DNA screening in dichorionic twin pregnancies with crown-rump length discordance. STUDY DESIGN: This was a secondary analysis of a multicenter retrospective cohort study that evaluated the performance of cell-free DNA screening for the common trisomies in twin pregnancies from December 2011 to February 2020. For this secondary analysis, we included live dichorionic pregnancies with crown-rump length measurements between 11 and 14 weeks of gestation. First, we compared twin pregnancies with discordant crown-rump lengths with twin pregnancies with concordant crown-rump lengths and analyzed the prevalence of aneuploidy and fetal structural anomalies in either twin. Second, we compared the prevalence of a composite adverse perinatal outcome, which included preterm birth at <34 weeks of gestation, hypertensive disorders of pregnancy, stillbirth or miscarriage, small-for-gestational-age birthweight, and birthweight discordance. Moreover, we assessed the performance of cell-free DNA screening in pregnancies with and without crown-rump length discordance. Outcomes were compared with multivariable regression to adjust for confounders. RESULTS: Of 987 dichorionic twins, 142 (14%) had crown-rump length discordance. The prevalence of aneuploidy was higher in twins with crown-rump length discordance than in twins with concordance (9.9% vs 3.9%, respectively; adjusted relative risk, 2.7; 95% confidence interval, 1.4-4.9). Similarly, structural anomalies (adjusted relative risk, 2.5; 95% confidence interval, 1.4-4.4]) and composite adverse perinatal outcomes (adjusted relative risk, 1.2; 95% confidence interval, 1.04-1.3) were significantly higher in twins with discordance. A stratified analysis demonstrated that even without other ultrasound markers, there were increased risks of aneuploidy (adjusted relative risk, 3.5; 95% confidence interval, 1.5-8.4) and structural anomalies (adjusted relative risk, 2.7; 95% confidence interval, 1.5-4.8) in twins with CRL discordance. Cell-free DNA screening had high negative predictive values for trisomy 21, trisomy 18, and trisomy 13, regardless of crown-rump length discordance, with 1 false-negative for trisomy 21 in a twin pregnancy with discordance. CONCLUSION: Crown-rump length discordance in dichorionic twins is associated with an increased risk of aneuploidy, structural anomalies, and adverse perinatal outcomes, even without other sonographic abnormalities. Cell-free DNA screening demonstrated high sensitivity and negative predictive values irrespective of crown-rump length discordance; however, 1 false-negative result illustrated that there is a role for diagnostic testing. These data may prove useful in identifying twin pregnancies that may benefit from increased screening and surveillance and are not ascertained by other early sonographic markers.

Reproductive and obstetric outcomes in TESE-ICSI cycles: A comparison between obstructive and non-obstructive azoospermia.

PURPOSE: 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. DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.

The prevalence of congenital anomalies: nationwide study in 2020 in Estonia.

OBJECTIVE: To assess the prevalence of congenital anomalies (CAs), chromosomal abnormalities and monogenic diseases among births and terminated pregnancies due to fetal anomalies (TOPFA) in 2020 in Estonia. Up to 2020 no data on prevalence of CAs in Estonia is reported. METHODS: For retrospective observational study data of all births and terminations of pregnancies after 12th gestational week from (i) the Estonian Medical Birth Registry, (ii) Abortion Registy, (iii) Health Insurance Fund and (iv) hospital records were linked. To calculate the total, live birth, stillbirth and TOPFA prevalence of CAs with 95% confidence intervals (CI), guidelines issued by EUROCAT, European network for the epidemiological surveillance of CAs, https://eu-rd-platform.jrc.ec.europa.eu/eurocat_en were followed. RESULTS: In 2020 the total prevalence of CAs, chromosomal abnormalities and monogenic diseases in Estonia was 378.6 per 10,000 births (95% CI 346.0, 413.5). The most prevalent CAs were heart defects, 163.7 cases per 10,000 births (95%CI 142.5, 187.2). The prevalence of chromosomal abnormalities and genetic diseases was 92.6 per 10,000 births (95%CI 76.8, 110.6), 80% of cases were among TOPFAs. No newborns with major aneuploidies (Trisomy 21, 18, 13, polyploidy) were reported in 2020. Live birth prevalence of CAs, including chromosomal abnormalities and genetic diseases was 258.4 per 10,000 live births (95%CI 231.5, 287.5) and stillbirth prevalence of CAs 0.8 per 10,000 births. CONCLUSIONS: The prevalence of CAs and genetic disorders in Estonia is one of the highest compared to prevalence reported by other European regions. It indicates to high population coverage with prenatal diagnostics in Estonia. Low number of major aneuploidies among live births may reflect good detection rate of major chromosomal abnormalities and cultural preferences.

Analyzing the factors that contribute to the development of embryological classical type of bladder exstrophy.

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.

Comparison of ultrasound and magnetic resonance imaging findings in evaluation of fetal congenital anomalies: A single-institution prospective observational study.

Background: This study aimed to compare the ultrasound (USG) and fetal magnetic resonance imaging (MRI) findings in the evaluation of congenital fetal anomalies and to determine whether the management is changes significantly if MRI is combined with USG. Methods: In this prospective observational cohort study, we performed fetal MRI in 90 consecutive cases of fetuses diagnosed or suspected as having congenital anomalies on a prior level II USG scan. We then compared the USG and MRI findings of each anomaly according to the diagnostic information yielded by each modality. Results: Of 90 fetuses examined during 1 year study period, MRI and USG findings were equivalent in 13.3% of cases. MRI provided additional information in 68.8% cases, of which pregnancy management was changed in 5.6% cases. MRI provided additional information but did not change management in 63.3% of cases. USG provided additional information but did not change pregnancy management in 17.8% of cases. The difference was statistically significant with a p value of .000. Conclusion: Fetal MRI is a significantly better modality than USG for detecting additional findings in anomalies of specific organ systems. Because of its high diagnostic yield for central nervous system (CNS) anomalies, it can be combined with USG for this subgroup. For non-CNS anomalies of genitourinary system, thorax, or in syndromic/complex malformations/conjoint twin pregnancy, it may be used as an adjunct to USG on a case to case basis. MRI has the potential to change the pregnancy management in few cases, but benefit is small to advocate a complete integration of MRI and USG for fetal anomaly scanning at present.

Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.

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.

"We All Want to Be Able to Tell You Something Hopeful": Clinicians' Experiences Providing Maternal-Fetal Surgery Counseling.

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.