Maternal/Fetal Pathway


32106 Predicting and Diagnosing Gestational Diabetes Mellitus: Are We Making Progress?

Glucose intolerance with onset or first recognition of pregnancy is termed gestational diabetes mellitus (GDM). Both the fetus and mother develop complications, which are reduced by therapy. Nevertheless, there is controversy surrounding the optimal screening and diagnostic strategies for GDM. Both the screening and diagnostic criteria vary among countries and between obstetric and diabetes organizations in a single country. In addition, there has been substantial interest over the last few years in earlier detection of GDM (i.e., before the current evaluation at 24-28 weeks of gestation). This session will review screening and diagnostic approaches for GDM including early prediction strategies. Learn more.

32431 Highlighting the Emerging Role of Anti-Müllerian Hormone in Ovarian Reserve, Assisted Reproduction, Polycystic Ovary Syndrome, and Other Diseases

This session will discuss the clinical utility of anti-Müllerian hormone (AMH) as an emerging biomarker for health status and certain diseases. In addition, challenges in AMH quantitation and current standardization efforts to improve the interpretation of results will be discussed. Learn more.


43115 or 53215 Non-invasive Prenatal Testing: Utilization of Cell-free DNA in Fetal Aneuploidy Screening and Beyond

Testing cell-free fetal DNA (cffDNA) in maternal blood has been widely used as a non-invasive prenatal screening approach for aneuploidy. Prenatal screening can detect greater than 98% of pregnancies that are affected by Down syndrome. The session will cover the utilization of testing cffDNA in prenatal screening, evaluate the available technologies and approaches to data analysis, and discuss the pros and cons in comparison with traditional prenatal screening based on chemistry methods. This roundtable will also explore new directions of using cffDNA in prenatal diagnosis of monogenic diseases such as cystic fibrosis, sickle-cell anemia, beta-thalassemia, and Huntington’s disease. Learn more.

43116 or 53216 Preeclampsia Screening and Diagnosis: A Novel Approach

Preeclampsia is a major cause of maternal and perinatal mortality and morbidity. This session will evaluate the concept of biomarker-based screening and diagnosis of preeclampsia in the first, second, and third trimesters of pregnancy. Learn more.

33106 Integrating Laboratory Results to Increase Quality Care for Affected Newborns Identified Through Newborn Screening: What Is the Optimal Workflow?

Newborn screening (NBS) is a state mandated public health program that uses laboratory testing to screen and diagnose disorders in newborns that can cause serious acute and chronic health problems. The complexity of this system makes it vulnerable to system failures, including delayed treatments, which can have devastating consequences. This session will provide an overview of the NBS system and provide insight into opportunities for improving delivery of care to newborns. Learn more.


44115 or 54215 Umbilical Cord Testing - Moving Beyond Blood Gases

Lab directors are being increasingly asked to utilize the umbilical cord for testing. During this session we will discuss current trends in umbilical cord testing, including drug screening of cord tissue. The session will also cover the use of umbilical cord blood in place of peripheral blood for a variety of laboratory tests in neonates in order to prevent phlebotomy-induced anemia. Learn more.

44126 or 54226 Diagnosing Inborn Errors of Metabolism: Challenging Cases in Biochemical Genetics

Inborn errors of metabolism (IEM) are single-gene disorders affecting metabolic pathways. Clinically heterogeneous, IEM are included in the differential diagnosis for several common conditions. Correctly identifying these conditions requires specific biochemical genetic testing usually performed by specialized laboratories. However, clinical suspicion can be triggered by routine laboratory testing, and biochemical genetic tests may be ordered by non-genetic specialists. Evaluating these results can be daunting for healthcare providers unfamiliar with these conditions. The goal for this discussion is to familiarize the audience with these esoteric tests and exemplify challenges in testing interpretation, providing specialized knowledge and uncommonly seen laboratory results. Learn more.