Reproductive genetic carrier screening in pregnancy: improving health outcomes and expanding access.

Reproductive genetic carrier screening (RGCS) serves to screen couples for their risk of having children affected by monogenic conditions. The included conditions are mostly autosomal recessive or X-linked with infantile or early-childhood onset. Cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies are now recommended by the American College of Obstetricians and Gynecologists (ACOG) for universal screening.

First-Trimester Ultrasound Screening in Routine Obstetric Practice.

Technologic advances and ultrasonographer-physician experience in fetal imaging have led to significant improvements in our ability to distinguish between normal and abnormal fetal structural development in the latter part of the first trimester. As a critical component of pregnancy care, assessment of fetal anatomy at the end of the first trimester with a standardized imaging protocol should be offered to all pregnant patients regardless of aneuploidy screening results because it has been demonstrated to identify approximately half of fetal structural malformations. Early identification of abnormalities allows focused genetic counseling, timely diagnostic testing, and subspecialist consultation.

Trends in Reporting of Nuchal Translucency Measurements After the Clinical Introduction of Cell-Free DNA Screening.

Nuchal translucency (NT) measurement in conjunction with serum analytes has been used for first-trimester aneuploidy screening in the United States since 2005. We sought to analyze the trends in reporting of NT measurements to the Nuchal Translucency Quality Review program in all pregnancies beginning after the clinical introduction of cell-free DNA (cfDNA) screening for fetal aneuploidy in 2011. Overall, reported NT measurements decreased 74.

Sensitivity of antenatal ultrasound in diagnosing posterior placenta accreta spectrum disorders.

Objectives: Optimal management of placenta accreta spectrum (PAS) requires antenatal diagnosis. We sought to evaluate the sensitivity of ultrasound findings suggestive of PAS in detecting posterior PAS.

Methods: Cohort study of patients with posterior placentation and pathology-confirmed PAS from 2011 to 2020 at a tertiary center.

The role of the fetal biophysical profile in the management of fetal growth restriction.

Growth-restricted fetuses are at risk of hypoxemia, acidemia, and stillbirth because of progressive placental dysfunction. Current fetal well-being, neonatal risks following delivery, and the anticipated rate of fetal deterioration are the major management considerations in fetal growth restriction. Surveillance has to quantify the fetal risks accurately to determine the delivery threshold and identify the testing frequency most likely to capture future deterioration and prevent stillbirth.

Maternal-fetal medicine fellows' perception and comfort with obstetrical ultrasound and prenatal diagnosis.

Background: Ultrasound training is a vital component of maternal-fetal medicine fellowships in the United States. Of the 18 months of core clinical training, the American Board of Obstetrics and Gynecology currently requires a minimum of 3 months to be dedicated to ultrasound to be eligible for board certification. However, the experience and degree of hands-on training differ among the fellowship programs and have not been reassessed for nearly a decade.

Circulating trophoblast cell clusters for early detection of placenta accreta spectrum disorders.

Placenta accreta spectrum (PAS) is a high-risk obstetrical condition associated with significant morbidity and mortality. Current clinical screening modalities for PAS are not always conclusive. Here, we report a nanostructure-embedded microchip that efficiently enriches both single and clustered circulating trophoblasts (cTBs) from maternal blood for detecting PAS.

Predicting Adverse Outcomes in Monochorionic-Diamniotic Twins: The Role of Intertwin Discrepancy in Middle Cerebral Artery Doppler Measurements and the Cerebroplacental Ratio.

Objective: This study was aimed to evaluate the role of intertwin discrepancy in middle cerebral artery peak systolic velocity (MCA-PSV) and cerebroplacental ratio (CPR) for the prediction of adverse outcomes in monochorionic-diamniotic (MCDA) twin pregnancies.

Study Design: A retrospective cohort study of MCDA pregnancies that underwent ultrasound surveillance at a perinatal referral center from 2007 to 2017. Intertwin MCA-PSV discrepancy (MCA-Δ) was defined as the absolute difference of MCA-PSV multiple of the median (MoM) for gestational age between twins.

Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A).

Purpose: To report the rate of fetal anomalies detected on anatomy ultrasound in pregnant patients who underwent IVF with preimplantation genetic testing for aneuploidy (PGT-A) compared to patients who conceived following IVF with unscreened embryos and age-matched patients with natural conceptions.

Methods: Retrospective cohort study at a single maternal-fetal medicine practice. Patients with singleton pregnancies who had a mid-trimester anatomy ultrasound between January 2017 and December 2018 were screened for inclusion.

Special Report of the Society for Maternal-Fetal Medicine Placenta Accreta Spectrum Ultrasound Marker Task Force: Consensus on definition of markers and approach to the ultrasound examination in pregnancies at risk for placenta accreta spectrum.

Placenta accreta spectrum includes the full range of abnormal placental attachment to the uterus or other structures, encompassing placenta accreta, placenta increta, placenta percreta, morbidly adherent placenta, and invasive placentation. The incidence of placenta accreta spectrum has increased in recent years, largely driven by increasing rates of cesarean delivery. Prenatal detection of placenta accreta spectrum is primarily made by ultrasound and is important to reduce maternal morbidity associated with the condition.

Clinical guidance and perinatal care in the era of coronavirus disease 2019 (COVID-19).

Pregnant women may be at risk for more severe manifestations and sequelae of infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). At this time, there remain significant evidence gaps to allow for comprehensive counseling of pregnant women and their families, specifically regarding the risks of gestational-age specific maternal outcomes and potential risks of intrauterine or peripartum viral transmission to the fetus or newborn. As maternal fetal medicine providers and consultants, we are uniquely positioned to mitigate the risks associated with maternal infection and to guide the care for infected pregnant women by being able to provide the most current evidence-based recommendations.

Novel Use of a Social-Media-Based Survey to Detect Regional Differences in Management of Monochorionic-Diamniotic Twins.

Objective: This study aims to evaluate the utility of social media to distribute a patient survey on differences in management and outcomes of monochorionic-diamniotic (MCDA) pregnancies.

Study Design: A cross-sectional survey was posted to an English-language MCDA twins patient-centered support group within the social media site, Facebook from April 2, 2018 to June 26, 2018. Subjects were recruited through a technique called "snowballing," whereby individuals shared the survey to assist with recruiting.

Gottesfeld-Hohler Memorial Foundation Risk Assessment for Early-Onset Preeclampsia in the United States: Think Tank Summary.

Preeclampsia is responsible for significant maternal and neonatal morbidity and is associated with a substantial economic burden. Aspirin has been shown to be effective in decreasing the risk of preterm preeclampsia; however, there is no consensus on the target population for aspirin prophylaxis. In May 2018, the Gottesfeld-Hohler Memorial Foundation organized a working group meeting with the goal of identifying the optimal preeclampsia risk-assessment strategy and consequent intervention in the United States.

Fetal cardiac rhabdomyomas treated with maternal sirolimus.

Objective: To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas.

Methods: We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation.

First-Trimester Ultrasound.

Since the 1980s, development of high-resolution transvaginal ultrasound transducers has significantly improved ultrasound evaluation at earlier gestational ages. Although many indications exist for first-trimester ultrasound in pregnancy, more emphasis has been placed on assessment of fetal anatomy recently. In turn, congenital diagnoses can also be made earlier in pregnancy, raising the question of whether anatomic assessment in the first trimester is one of choice or obligation.

Simple Adnexal Cysts: SRU Consensus Conference Update on Follow-up and Reporting.

This multidisciplinary consensus update aligns prior Society of Radiologists in Ultrasound (SRU) guidelines on simple adnexal cysts with recent large studies showing exceptionally low risk of cancer associated with simple adnexal cysts. Most small simple cysts do not require follow-up. For larger simple cysts or less well-characterized cysts, follow-up or second opinion US help to ensure that solid elements are not missed and are also useful for assessing growth of benign tumors.

First-Trimester Abdominal Circumference (Versus Crown Rump Length) Improves Precision in Inter- and Intraobserver Variability.

Objectives: The aim of this study was to evaluate inter- and intraobserver variability of first-trimester biometric measurements and crown-rump length (CRL) and to compare the accuracy and precision of CRL with these biometric measurements used in the interpretation of first-trimester nuchal translucency (NT).

Methods: Women presenting for a first trimester ultrasound were recruited. Both a sonographer, and a maternal fetal medicine specialist individually examined each participant.

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio.

Objectives: The objectives of this study are to develop gestational age-specific growth curves for fetal third metacarpal and phalangeal lengths and to determine if fetal hand proportion is established in utero.

Methods: This prospective cross-sectional study used 2D ultrasound across gestational ages 12 to 39 weeks to evaluate the third fetal metacarpal and phalangeal measurements. Gestational age-specific reference growth curves were developed.