Prenatal diagnosis of mucopolysaccharidosis type VII facilitating treatment in neonatal period.

Duo exome testing was performed on a fetus conceived via in vitro fertilization with an egg donor. The fetus presented with non-immune hydrops fetalis (NIHF) at 20 + 0 weeks gestation. Two variants were detected in the GUSB gene.

Postpartum maternal tachycardia - diagnostic pitfalls!

Purpose Of Review: Maternal tachycardia is a common sign with a multitude of causes. We attempt to look at the most common sinister ones in the postpartum period.

Recent Findings: Current guidelines differ in the definition of maternal tachycardia.

Ultrasound-guided prophylactic abdominal aortic balloon occlusion for placenta accreta spectrum disorder: A case series.

Placenta accreta spectrum (PAS) disorder is one of the most dangerous conditions that can affect pregnancy and its incidence is increasing secondary to rising cesarean section rates worldwide. The standard treatment is frequently elective hysterectomy at the time of cesarean delivery; however, uterine and fertility preserving surgery is becoming more common. In the pursuit of a reduction in blood loss and associated maternal morbidity, occlusive vascular balloons are increasingly used at the time of surgery, usually placed with fluoroscopic guidance.

The influence of maternal insulin-dependent diabetes on fetal nuchal translucency thickness and first-trimester maternal serum biochemical markers of aneuploidy.

Objective: To evaluate the influence of maternal insulin dependent diabetes mellitus (IDDM) on maternal serum free beta-hCG, PAPP-A and fetal nuchal translucency (NT), thickness at 11 to 13(+6) weeks of gestation in a large cohort of women screened prospectively for chromosomal anomalies.

Methods: Information on maternal IDDM status, maternal serum biochemical marker levels and fetal NT were collected from the prenatal screening computer records in two first-trimester screening centres. In total the control group included 33 301 pregnancies of which 16 366 had NT and maternal serum biochemistry results and 16 305 with NT only.

Prediction of pregnancy complications by first-trimester maternal serum PAPP-A and free beta-hCG and with second-trimester uterine artery Doppler.

Background: Previous studies have shown an association between low first trimester maternal serum free beta-hCG and PAPP-A and subsequent development of pregnancy complications. Similarly, uterine artery Doppler in the late second trimester has shown that high impedance to flow is associated with increased risk for preeclampsia and fetal growth restriction. The objective of this study is to determine whether there is an association between the maternal serum concentration of PAPP-A and free beta-hCG at 11-13(+6) weeks with the uterine artery pulsatility index (PI) at 22-24 weeks, and secondly, to compare the screening characteristics of the two methods in the prediction of adverse pregnancy outcome.