Obesity in prenatal medicine: a game changer?

Obesity is recognized by the World Health Organization (WHO) as a disease in its own right. Moreover, obesity is an increasingly concerning public health issue across the world and its prevalence is rising amongst women of reproductive age. The fertility of over-weight and obese women is reduced and they experience a higher rate of miscarriage. In pregnant women obesity not only increases the risk of antenatal complications, such as preeclampsia and gestational diabetes, but also fetal abnormalities, and consequently the overall feto-maternal mortality. Ultrasound is one of the most valuable methods to predict and evaluate pregnancy complications. However, in overweight and obese pregnant women, the ultrasound examination is met with several challenges, mainly due to an impaired acoustic window. Overall obesity in pregnancy poses special challenges and constraints to the antenatal care and increases the rate of pregnancy complications, as well as complications later in life for the mother and child.

How to do a 3D uterus ultrasound?

Three-dimensional (3D) ultrasound is an invaluable tool in the detection and evaluation of many uterine anomalies and improves upon the traditional approach of two-dimensional (2D) ultrasonography. We aim to describe an easy way of assessing the uterine coronal plane using the basic three-dimensional ultrasound in everyday gynecological practice.

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

OBJECTIVES: To examine the diagnostic yield of trio exome sequencing in fetuses with multiple structural defects with no pathogenic findings in cytogenetic and microarray analyses. METHODS: We recruited 51 fetuses with two or more defects, non-immune fetal hydrops or fetal akinesia deformation syndrome|or fetal akinesia deformation sequence (FADS). Trio exome sequencing was performed on DNA from chorionic villi samples and parental blood. Detection of genomic variation and prioritization of clinically relevant variants was performed according to in-house standard operating procedures. RESULTS: Median maternal and gestational age was 32.0 years and 21.0 weeks, respectively. Forty-three (84.3%) fetuses had two or more affected organ systems. The remaining fetuses had isolated fetal hydrops or FADS. In total, the exome analysis established the genetic cause for the clinical abnormalities in 22 (43.1%, 95% CI 29.4%-57.8%) pregnancies. CONCLUSIONS: In fetuses with multiple defects, hydrops or FADS and normal standard genetic results, trio exome sequencing has the potential to identify genetic anomalies in more than 40% of cases.

Universal Cell Free DNA or Contingent Screening for Trisomy 21: Does It Make a Difference? A Comparative Study with Real Data.

OBJECTIVE: The aim of the objective was to compare the detection rate for trisomy 21 of universal cell free DNA (cfDNA) screening with contingent screening. METHODS: Retrospective study was carried out at 3 German centers. The study included euploid and trisomy 21 pregnancies where cfDNA and first trimester (FT) screening assessment was carried out. The FT risk for trisomy 21 was computed based on combined screening and stratified into the following classes: high risk ≥1:10, intermediate risk 1:11-1,000, low risk ≤1,001. For universal cfDNA screening, the cfDNA test results were examined. For the contingent screening model, the result of the cfDNA test was taken into account in case of an intermediate FT risk. Different strategies combining maternal age, nuchal translucency, nasal bone, beta-hCG, and PAPP-A were evaluated. Screen positivity was defined as either a high risk after FT screening or a cfDNA test indicating a high-risk result. An inconclusive cfDNA test was also considered as screen positive. RESULTS: The search of the database identified 2,255 euploid and 163 affected pregnancies. All affected fetuses were identified by universal cfDNA screening. 1.3% of the euploid fetuses were classified as screen positive due to final inconclusive cfDNA test result. The detection and false-positive rate of a contingent approach that is based on combined screening and cfDNA screening in the intermediate group would be 98.4% and 0.7%, respectively. With this approach, cfDNA screening would be necessary in only about 27% of all pregnancies. CONCLUSION: This study demonstrates that a contingent approach provides similar detection rates for trisomy 21 as universal cfDNA screening, by a reduction of 73% the number of cfDNA tests.