The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges.

Importance: Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.

Objective: This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.

Standard-Dose Azithromycin in Class III Obese Patients Undergoing Unscheduled Cesarean Delivery.

Objective: Perioperative antibiotic prophylaxis reduces cesarean wound complications. This study investigates whether integration of standard-dose (500 mg) azithromycin prophylaxis reduced wound complications in patients with class III obesity (body mass index [BMI] ≥ 40 kg/m) undergoing unscheduled cesarean delivery.

Study Design: Retrospective cohort study of patients with class III obesity undergoing unscheduled cesarean delivery in single hospital system from January 1, 2017, to January 1, 2020.

First Trimester Ultrasound and Aneuploidy Screening in Twins.

All patients with twin pregnancy should have first trimester ultrasound and be offered screening for chromosomal aneuploidy as well as diagnostic testing. Screening for aneuploidy in twins presents unique challenges compared with singletons. Cell-free DNA screening should be considered first-line; however, this option may not be available or may have limitations in certain clinical scenarios, such as vanishing twins.

Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period.

Importance: Cystic fibrosis (CF) is one of the most common autosomal recessive disorders. Carrier screening for CF should be offered to all women considering becoming pregnant or who are pregnant. Understanding the available screening tests, their limitations, and the benefits of screening is of paramount importance to the obstetrician-gynecologist.

Screening Echocardiogram in High-Risk Women with Class III Obesity to Predict the Risk of Preeclampsia.

Objective: Women with obesity and other comorbidities such as hypertension and diabetes are at an increased risk of preeclampsia and perinatal morbidity. This study evaluates whether screening echocardiogram can identify women with obesity at a higher risk of preeclampsia.

Methods: We conducted a retrospective cohort study of women with class III obesity (body mass index [BMI] ≥40 kg/m) and one or more medical comorbidities associated with an increased risk of preeclampsia (such as diabetes, hypertension, and rheumatologic disease) undergoing screening echocardiogram.

Screening for aneuploidy in twins.

All pregnant women should be offered screening for aneuploidy. Twin pregnancies present unique challenges in aneuploidy screening. This review describes available aneuploidy screening options and their benefits and limitations in twin pregnancy, along with describing special circumstances, such as vanishing twins and diagnostic testing in twin pregnancy.

Obesity and no call results: optimal timing of cell-free DNA testing and redraw.

Background: Fetal fraction of cell-free DNA decreases with increasing maternal weight. Consequently, cell-free DNA screening for fetal aneuploidy has higher screen failures or "no call" rates in women with obesity owing to a low fetal fraction. The optimal timing of testing based on maternal weight is unknown.

Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.

Importance: Spinal muscular atrophy (SMA) confers significant risk of neonatal and infant morbidity and mortality. Screening women during or before pregnancy for carrier status of SMA presents an opportunity to identify pregnancies at risk for this potentially devastating condition.

Objective: The objective of this review is to describe the different forms of SMA and their inheritance.

Screening for Aneuploidy in the Patient With Diabesity: Pearls and Pitfalls.

The American College of Obstetrics & Gynecology (ACOG) recommends offering aneuploidy screening to all pregnant women. Obesity and diabetes are not associated with an increased risk of aneuploidy; however, they can complicate and compromise testing options. As the prevalence of obesity and diabetes, or "diabesity" increases, counseling women regarding potential limitations in testing performance of aneuploidy screening is of paramount importance.

Labor and Delivery Outcomes with the Sequential Use of Misoprostol Followed by Cervical Foley Catheter.

Objective: Studies demonstrate shorter time to delivery with concurrent use of misoprostol and cervical Foley catheter. However, concurrent placement may not be feasible. If misoprostol is used to start an induction, little is known regarding the benefit of sequentially using Foley catheter.

Exome Sequencing and Its Emerging Role in Prenatal Genetic Diagnosis.

Importance: Prenatal genetic diagnosis can guide pregnancy management and decision making. Genetic diagnosis has advanced rapidly, and chromosomal microarray has become widely used, in addition to conventional karyotype. Exome sequencing may provide an even higher detection rate of genetic anomalies and may be more commonly applied in the future.

Association between cell-free DNA fetal fraction and gestational diabetes.

Objective: To determine the association between cell-free DNA (cfDNA) fetal fraction and gestational diabetes (GDM) in a cohort of women presenting for cfDNA screening for fetal aneuploidy.

Methods: A retrospective cohort study of women with singleton pregnancies who had cfDNA screening at a single institution at 10 to 20 weeks gestation between October 2011 and October 2017. Fetal fractions were adjusted for gestational age (GA) using multiples of the median (MoM).

Cell-free DNA for Down syndrome screening in obese women: Is it a cost-effective strategy?

Objective: Determine cost differences between cell-free DNA (cfDNA) and serum integrated screening (INT) in obese women given the limitations of aneuploidy screening in this population.

Methods: Using a decision-analytic model, we estimated the cost-effectiveness of trisomy 21 screening in class III obese women using cfDNA compared with INT. Primary outcomes of the model were cost, number of unnecessary invasive tests, procedure-related fetal losses, and missed cases of trisomy 21.

Congenital Heart Disease: Prenatal Diagnosis and Genetic Associations.

Importance: Congenital heart disease (CHD) is a common cause of neonatal morbidity and mortality. Several genetic abnormalities have been linked to congenital cardiac disease. When diagnosed prenatally, appropriate evaluation can help optimize neonatal outcomes.

Efficacy of Non-Beta-lactam Antibiotics for Prevention of Cesarean Delivery Surgical Site Infections.

 To examine the association between perioperative Beta ( ))-lactam versus non- -lactam antibiotics and cesarean delivery surgical site infection (SSI).  Retrospective cohort of women undergoing cesarean delivery from January 1 to December 31, 2014. All women undergoing cesarean after 34 weeks with a postpartum visit were included.

Are prediction models for vaginal birth after cesarean accurate?

Background: The use of trial of labor after cesarean delivery calculators in the prediction of successful vaginal birth after cesarean delivery gives physicians an evidence-based tool to assist with patient counseling and risk stratification. Before deployment of prediction models for routine care at an institutional level, it is recommended to test their performance initially in the institution's target population. This allows the institution to understand not only the overall accuracy of the model for the intended population but also to comprehend where the accuracy of the model is most limited when predicting across the range of predictions (calibration).

Induction of Labor versus Scheduled Cesarean in Morbidly Obese Women: A Cost-Effectiveness Analysis.

Objective: To assess the costs, complication rates, and harm-benefit tradeoffs of induction of labor (IOL) compared to scheduled cesarean delivery (CD) in women with class III obesity.

Study Design: We conducted a cost analysis of IOL versus scheduled CD in nulliparous morbidly obese women. Primary outcomes were surgical site infection (SSI), chorioamnionitis, venous thromboembolism, blood transfusion, and readmission.

Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist.

Importance: Inherited metabolic disorders, or inborn errors of metabolism, can result in significant morbidity and mortality. Advances in genetic testing, including newborn screening and prenatal carrier screening, continue to increase awareness and highlight the importance of these conditions. Increasingly, women born with these conditions are surviving to adulthood, and many become pregnant.

Evaluation and Management of Maternal Congenital Heart Disease: A Review.

Objective: Congenital heart defects represent the most common major congenital anomalies. The objective of this review was to define the most common forms of congenital heart disease (CHD) in pregnancy, outline preconception counseling, discuss the associated morbidity and mortality of each lesion, and review current recommendations for management of CHD in pregnancy.

Evidence Acquisition: A MEDLINE search of "congenital heart disease in pregnancy" and specific conditions in pregnancy including "ventricular septal defect," "atrial septal defect," "left outflow obstruction," "right outflow obstruction," "tetralogy of Fallot," and "transposition of the great vessels" was performed.

Perioperative Antibiotic Choice in Labored versus Unlabored Cesareans and Risk of Postcesarean Infectious Morbidity.

Objective:  This study aims to estimate postcesarean infectious morbidity in women receiving perioperative β-lactam versus non-β-lactam antibiotics.

Methods:  We conducted a retrospective cohort analysis of the Maternal-Fetal Medicine Unit Cesarean Registry. The exposure was β-lactam perioperative antibiotics versus non-β-lactam regimens at cesarean delivery (CD).

Hepatoid carcinoma of the ovary: A case report and review of the literature.

Primary hepatoid carcinoma of the ovary (HCO) is a rare aggressive tumor that typically presents at an advanced stage in postmenopausal women with unilateral or bilateral ovarian masses and elevated AFP and CA125. We report a case of HCO in a 73 year-old woman who presented with abdominal distention, weight loss, and a large lower abdominal mass. Postoperative serum AFP was markedly elevated and trended down with initiation of chemotherapy.