Stephanie Andriole

Chorionic villus sampling and amniocentesis in 2008.

Purpose of review Over the past decades there have been wide discrepancies between quoted risks of diagnostic procedures (chorionic villus sampling and amniocentesis) yet little properly controlled and randomized data to back often dogmatic assertions. Here, we review the historical and current literature to determine realistic estimates. Recent findings Several papers this past year have addressed in cohort studies and meta-analyses composite risks for both chorionic villus sampling and amniocentesis. The studies have had varying degrees of reliability and likely reproducibility. Summary Despite one outlier paper, which had major methodological flaws, the consensus of the modern literature is that in experienced hands there is little to no differences between the procedure risks of amniocentesis and chorionic villus sampling. The latter, however, is clearly harder to learn and has a steeper learning curve.

Detection of genetic abnormalities by using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses

To examine the ability of chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) to detect aneuploidy before first trimester fetal reduction (FR) in sonographically normal‐appearing fetuses.

Evolution of gender options in multiple pregnancy management

Fetal reduction (FR) in multiples dramatically improves outcomes. We prioritize FR decisions for health and historically declined to factor gender. As male preferences apparently diminished, our bioethicist encouraged a re‐evaluation.

Screening and Testing in Multiples

The choice of screening or invasive procedure in twin pregnancies is a personal choice of whether the patient wishes to take a small risk of having a baby with a serious disorder versus a small risk of having a complication because she wishes to avoid that. How to interpret such risks has profound effects on the perceived value of techniques, either leading to a decision to screening or going directly to chorionic villus sampling. There are profound issues surrounding the data and the interpretation of the data. No single short review can exhaustively examine all of the issues.

The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

To assess the implications of increasing utilization of noninvasive prenatal screening (NIPS), which may reach 50% with the concomitant decrease in diagnostic procedures (DPs) for its impact on detection of chromosomal abnormalities.

Invasive Procedures in the First Trimester

Over the past few decades there have been dramatic advances in both ultrasound and genetic laboratory technologies. The combination of these, not either one by itself, has led to an explosion of capabilities to diagnose fetal status earlier and earlier in pregnancy. The major shift in screening from second trimester ultrasounds and multiple marker biochemical screening of the 1990s to first-trimester nuchal translucency, biochemical, and now cell-free DNA screening, has skyrocketed the need for first-trimester definitive diagnostic techniques. In experienced hands chorionic villus sampling (CVS) is as safe (or safer) than amniocentesis, generates far more specimen volume for the lab, and allows couples’ privacy in their reproductive decisions. Early amniocenteses have come and gone. Preimplantation genetic diagnosis (PGD) is an excellent screen in high risk situations, and fetal reduction, particularly when combined with CVS, maximizes the outcomes of multifetal gestations, as well as sometimes allowing couples secondary choices, such as gender preference.

Medical Reasons for Pregnancy Interruption: Fetal Reduction

The procedure of fetal reduction (FR) was begun 30 years ago to salvage pregnancies of couples who, following fertility therapy, were “too successful,” i.e., pregnant with too many fetuses. FR has gone from a rarity performed in only the highest risk situations to now an integral fail-safe of infertility practice. Our understanding of the problems of multiple gestations and premature births has increased. Twins have complications 4–5 times that of singletons. Evaluation of fetuses before FR now allows more intelligent choices and improved resultant outcomes. We currently perform CVS in about 85 % of our cases, obtain FISH results overnight, and perform FR the next day. Decisions about which fetus(es) to reduce prioritizes anomalies, but can include fetal gender in the decision process, as couples now are just as likely to request females as males. In cases at risk for Mendelian disorders, sophisticated molecular analyses permit disease diagnoses before FR; paternity analysis also can be performed with these techniques. Ethical arguments have also evolved. As with many technologies in which the initial use was for only “life or death cases,” FR has moved onto “quality of life” issues. Reduction of twins to a singleton now compromises about 30 % of our cases.