First trimester diagnosis and screening for fetal aneuploidy

Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. Benefits of first trimester screening include earlier identification of the pregnancy at risk for fetal aneuploidy and anatomic defects, in particular, cardiac anomalies, and the option of earlier diagnosis by chorionic villus sampling, if available. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004) and complements the sections of American College of Medical Genetic’s Standards and Guidelines for Clinical Genetics Laboratories entitled “Prenatal screening for Down syndrome that includes first trimester biochemistry and/or ultrasound measurements.

A High Through-Put Reverse Genetic Screen Identifies Two Genes Involved in Remote Memory in Mice

Previous studies have revealed that the initial stages of memory formation require several genes involved in synaptic, transcriptional and translational mechanisms. In contrast, very little is known about the molecular and cellular mechanisms underlying later stages of memory, including remote memory (i.e. 7-day memory). To identify genes required for remote memory, we screened randomly selected mouse strains harboring known mutations. In our primary reverse genetic screen, we identified 4 putative remote memory mutant strains out of a total of 54 lines analyzed. Additionally, we found 11 other mutant strains with other abnormal profiles. Secondary screens confirmed that mutations of integrin β2 (Itgβ2) and steryl-O-acyl transferase 1 (Soat1) specifically disrupted remote memory. This study identifies some of the first genes required for remote memory, and suggests that screens of targeted mutants may be an efficient strategy to identify molecular requirements for this process

Perinatal outcome of appropriate-weight fetuses with decelerating growth

Introduction: To assess the perinatal outcome of fetuses dropping by ≥50 estimated fetal weight (EFW) centiles between the second and third trimester. Methods: Singleton pregnancies progressing after 32 + 0 weeks, who had their second- and third-trimester scans at our institutions were enrolled in the study. The perinatal outcome of AGA fetuses crossing more than 50 centiles was compared to that of fetuses with FGR, small for gestational age (SGA) and nondecelerating appropriate for gestational age (AGA). The primary perinatal outcomes were perinatal death, neonatal intensive care (NICU) admission and emergency cesarean section (CS). The rates of these outcomes were compared between the four groups and regression analysis was performed to account for maternal and fetal confounders. Results: Our analysis included 4394 cases. Compared to nondecelerating SGA, fetuses crossing ≥50 centiles had higher rates of NICU admission (odds ratio [OR] 1.8, 95% confidence interval [CI] CI 1.1–3.1) and perinatal death (OR 3.8, 95%CI 1.3–11.4). Regression analysis showed that significant independent predictors for NICU admission included maternal age, gestational age at birth and FGR (area under the curve [AUC] 0.851), whereas significant predictors for perinatal death included maternal age, gestational age at birth, decelerating growth ≥50 centiles, conception through ART and third-trimester CPR centile (AUC 0.801). Conclusion: AGA fetuses that cross >50 EFW centiles between the second and third trimester are at increased risk of adverse perinatal outcome and it seems advisable that they are followed up as typical FGR cases. © 2019 Informa UK Limited, trading as Taylor & Francis Group