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Congenital malformations diagnosed by ultrasound screening complicate 3–5% of pregnancies and many of these have an underlying genetic cause. Approximately 40% of prenatally diagnosed fetal malformations are associated with aneuploidy or copy number variants, detected by conventional karyotyping, QF-PCR and microarray techniques, however monogenic disorders are not diagnosed by these tests. Next generation sequencing as a secondary prenatal genetic test offers additional diagnostic yield for congenital abnormalities deemed to be potentially associated with an underlying genetic aetiology, as demonstrated by two large cohorts: the ‘Prenatal assessment of genomes and exomes’ (PAGE) study and ‘Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study’ performed at Columbia University in the US. These were large and prospective studies but relatively ‘unselected’ congenital malformations, with little Clinical Genetics input to the pre-test selection process. This review focuses on the incremental yield of next generation sequencing in single system congenital malformations, using evidence from the PAGE, Columbia and subsequent cohorts, with particularly high yields in those fetuses with cardiac and neurological anomalies, large nuchal translucency and non-immune fetal hydrops (of unknown aetiology). The total additional yield gained by exome sequencing in congenital heart disease was 12.7%, for neurological malformations 13.8%, 13.1% in increased nuchal translucency and 29% in non-immune fetal hydrops. This demonstrates significant incremental yield with exome sequencing in single-system anomalies and supports next generation sequencing as a secondary genetic test in routine clinical care of fetuses with congenital abnormalities.

Objective: To determine the prevalence of pre-eclampsia and fetal growth restriction (FGR

Background— Echocardiography is commonly used to direct the management of hypertensive disorders in medical patients, but its application in pregnancy is unclear. Our objective was to define the use of echocardiography in pregnancies complicated by gestational hypertension (GH) and preeclampsia. Methods and Results— We performed a systematic review of articles using an electronic search of databases from inception to March 2015, prospectively registered with PROSPERO (CRD42015015700). Eligible studies included pregnant women with GH or preeclampsia, evaluating left ventricular structure and function using echocardiography. The search strategy identified 36 studies, including 745 women with GH and 815 women with preeclampsia. The populations were heterogeneous with respect to clinical characteristics, parity, and risk of bias. Increased vascular resistance and left ventricular mass were the most consistent findings in GH and preeclampsia. Differentiating features from normal pregnancy were left ventricular wall thickness of ≥1.0 cm, exaggerated reduction in E/A, and lateral e′ of Conclusions— Echocardiography is a valuable tool to stratify risk and can guide management and counseling in the preclinical and clinical phases of GH and preeclampsia. Changes in cardiac function and morphology are recognizable at an asymptomatic early stage and correlate with disease severity and adverse outcomes.

groups found the side effects either acceptable or highly acceptable (Group 1: 74.8%; Group 2: 89.5%). Most women in both groups found the procedure satisfactory or very satisfactory (Group 1: 74.3%; Group 2: 88.1%). However, significantly more women in Group 1 cited that the length of hospitalization was the worst aspect of the procedure (Group 1: 18.9%; Group 2: 7.9%; p-value 0.05). CONCLUSION: Misoprostol is a safe and effective method for medical induction of labor after intrauterine fetal demise. A 200mcg dose is significantly more effective than 100mcg for evacuating the uterus within 48h. The side effects and treatment are highly acceptable to women.

To the Editor: ‘Time to act’1—a message which resonates with the team on our metropolitan Delivery Suite, who this week managed an acute myocardial infarction in a postnatal lady. Our patient had two of the risk factors mentioned in the editorial, her being 36 years old and a smoker. In addition, she had an important risk factor which can be missed, as demonstrated by our recent experience. Since most women with acute coronary syndrome in pregnancy and the puerperium have no symptoms before pregnancy, …

A fresh spleen sample obtained from a patient with leukemic reticuloendotheliosis was homogenized and subjected to centrifugation on a sucrose density gradient. A major portion of acid phosphatase band 5 was observed in the lysosome, confirming that the elevated phosphatase activity in the neoplastic spleen is a lysosomal enzyme. However, a significant amount of band 5 was also observed in the microsome. The microsomal and lysosomal enzymes have different affinity to CM-cellulose. The relationship between lysosomal and microsomal enzymes has not been established.