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Key content: In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic diagnosis.There are number of traditional and more novel genomic tests available, which can identify aneuploidy, chromosomal structural variation and/or sequence variants within genes.The cumulative diagnostic yield of such technologies is approximately 25%, 6% and up to 80% in some cohorts for QF‐PCR/G‐banding karyotype, chromosome microarray and exome sequencing, respectively. Learning objectives: To understand the technical basis and clinical indications for QF‐PCR, G‐banding karyotype, chromosome microarray and exome sequencing.To appreciate the potential benefits and challenges associated with exome sequencing.To gain awareness of modern technologies that may be utilised to address recurrence risk, e.g. preimplantation genetic diagnosis and non‐invasive prenatal diagnosis. Ethical issues: Not all technologies are currently available across all four nations of the UK, hence challenges are raised regarding healthcare equity.There can be uncertainty around the interpretation of prenatal genomic test results, which can have implications in counselling, particularly regarding termination of pregnancy.Incidental findings may be revealed, which can have implications for counselling and the future health of the fetus and the parents. [ABSTRACT FROM AUTHOR]

Objective: To determine the diagnostic yield of exome sequencing (ES) above that of chromosomal microarray analysis (CMA) or karyotyping in fetuses with multisystem structural anomalies (at least two major anomalies in different anatomical systems). Method: This was a systematic review conducted in accordance with PRISMA guidelines. Searching PubMed, Web of Knowledge and Cochrane database, we identified studies describing ES, whole‐genome and/or next‐generation sequencing in fetuses with multisystem malformations. Included were observational studies involving five or more eligible fetuses. A fetus was eligible for inclusion if it had at least two major anomalies of different anatomical systems and a negative CMA or karyotyping result. Only positive variants classified as likely pathogenic or pathogenic determined to be causative of the fetal phenotype were considered. A negative CMA or karyotype result was treated as the reference standard. The diagnostic yield of the primary outcome was calculated by single‐proportion analysis using random‐effects modeling. A subgroup analysis was performed to compare the diagnostic yield of the solo approach (fetus alone sequenced) with that of the trio approach (fetus and both parents sequenced). Results: Seventeen articles with data on ES diagnostic yield, including 694 individuals with multisystem malformations, were identified. Overall, a pathogenic or likely pathogenic variant potentially causative of the fetal phenotype was found in 213 fetuses, giving a 33% (95% CI, 27–40%) incremental yield of ES. A stratified analysis showed similar diagnostic yields of ES using the solo approach (30%; 95% CI, 11–52%) and the trio approach (35%; 95% CI, 26–44%). Conclusions: ES applied in fetuses with multisystem structural anomalies was able to identify a potentially causative gene when CMA or karyotyping had failed to do so in an additional one‐third of cases. No differences were observed between the solo and trio approaches for ES. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objectives  Our primary objective was to evaluate how prenatal diagnosis of a major fetal structural anomaly and resulting pregnancy outcome affected postpartum depression risk, as assessed by the Edinburgh Postnatal Depression Scale (EPDS). Secondary objectives were to review the rate of mental health follow-up and subsequent diagnosis of postpartum depression in screen-positive women. Study Design  Singleton pregnancies with prenatal diagnosis of one or more major fetal structural anomalies were ascertained from prospectively maintained databases that included perinatal outcomes and subsequent EPDS responses from January 2010 to May 2018. EPDS scores of 13 or higher were considered positive and prompted referral for mental health follow-up, which was verified by medical record review. Statistical analyses were performed using Student's t -test, χ 2 , and odds ratios (ORs) with p  < 0.05 considered significant. Results  A total of 1,306 women had a prenatal diagnosis of one or more major fetal structural anomalies, 896 (68%) also had a postpartum EPDS screening, and 82 (9.2%) screened positive. Positive EPDS screening was more common with anomalies of multiple organ systems (16.5 vs 7.8%, p  = 0.002) and aneuploidy (17.1 vs 9.3%, p  = 0.02). Pregnancies complicated by fetal death, neonatal death, and termination for anomaly were significantly more likely to screen positive than those with neonatal survival to discharge (OR, 3.1 [95% confidence interval [CI], 1.6–6.2], 3.0 [95% CI, 1.5–5.8], and 4.4 [95% CI, 2.1–8.9], respectively, p ≤ 0.002). Of the 35 (43%) screen-positive women who attended follow-up appointments with mental health providers, 18 (51%) were diagnosed with a depressive disorder, accounting overall for 22% of those with a positive EPDS screen. Conclusion  Among women with a prenatal diagnosis of a major fetal structural anomaly, those experiencing a perinatal loss or pregnancy termination have an increased risk of positive EPDS screen result compared with who have a neonate surviving to discharge. A depressive disorder was diagnosed postpartum in 22% of these women with a positive EPDS screen. Our findings highlight the mental health needs in this vulnerable population. Key Points Adverse pregnancy outcome increased positive EPDS screen risk among women with prenatal anomalies. A depressive disorder was diagnosed postpartum in 22% of such women with a positive EPDS screen. Our findings highlight the mental health needs in this vulnerable population. [ABSTRACT FROM AUTHOR]

Objective: We aimed to investigate the characteristics of early and late gestational termination cases by evaluating the cases underwent gestational termination in our clinic. Methods: All pregnant women who had singleton pregnancy and underwent gestational termination due to fetal indications between January 2017 and December 2019 were included in the study. Results: A total of 341 cases, of which 263 were with early gestational termination (Group 1) and 73 were with late gestational termination (Group 2) were included in the study. No difference was observed between the demographic characteristics of the groups. The ultrasonographic structural anomaly was observed in 273 (80.1%) of 341 cases and no structural anomaly was observed in 68 (19.9%) cases. Of the cases with structural anomaly, 200 (73%) had isolated system anomaly and 73 (26.7%) had multiple system anomaly. Karyotype analysis was performed in 68% of the cases, and chromosomal anomaly was found in 52.6% of them, Among the cases with normal karyotype analysis results, 22 cases had single gene disorder, of which mostly had thalassemia. While the incidence of structural anomaly was significantly high in the late termination cases (91% vs. 76.8%), the incidence of isolated cardiovascular anomaly was significantly high in the late termination cases similarly (37.5% vs. 13.8%). The autopsy was performed on 16.7% of the cases after termination and the findings were consistent with the prenatal ultrasonographic results in 86% of the cases, and additional findings were found in 22.4% of the cases in the autopsy. Conclusion: When the late gestational terminations performed in our clinic are compared to the early gestational terminations, we believe that conducting ultrasonographic anomaly screening to all pregnant women including echocardiography even at a less rate, and also making screening programs in the early gestational periods such as aneuploidy screening easily? accessible for all pregnant women may help to maintain maternal health by? decreasing the rates of the cases with late gestational termination. [ABSTRACT FROM AUTHOR]

Abstract: Monochorionic twins account for approximately 20% of twin pregnancies. They are at significantly increased risk of fetal and neonatal loss and neonatal morbidity than dichorionic twins. This can be attributed to a number of pathological conditions that can arise due to the shared monochorionic placenta, which contains a number of inter-fetal vascular anastomoses. Specific complications which can arise include; Twin-twin Transfusion Syndrome, Twin Reversed Arterial Perfusion syndrome, single intrauterine death and the complications arising from this for the surviving twin. Monochorionic twin pregnancies may also be complicated by pathological conditions arising from increasingly late embryological division such as monoamniotic monochorionic twins and conjoint twins. These complicated pregnancies are discussed in this review and the obstetric management of these pregnancies is outlined. [Copyright &y& Elsevier]