Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …

Global medical associations (ACOG, ISUOG, ACMG) recommend diagnostic prenatal testing
for the detection and prevention of genetic disorders. Historically, cytogenetic methods such …

Purpose This workgroup aimed to develop an evidence-based clinical practice guideline for
the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for …

Disclaimer: This points to consider document is designed primarily as an educational
resource for medical geneticists and other clinicians to help them provide quality medical …

Background Since its debut in 2011, cell-free fetal DNA screening has undergone rapid
expansion with respect to both utilization and coverage. However, conclusive data regarding …

Fetal and Neonatal Physiology, edited by Drs. Polin, Fox, and Abman, focuses on
physiologic developments of the fetus and newborn and their impact on the clinical practice …

Background Exome sequencing is now being incorporated into clinical care for pediatric and
adult populations, but its integration into prenatal diagnosis has been more limited. One …

Chromosomal microarray analysis is a high-resolution, whole-genome technique used to
identify chromosomal abnormalities, including those detected by conventional cytogenetic …

Objective To estimate the incremental yield of detecting copy number variants (CNVs) by
genomic microarray over karyotyping in fetuses with increased nuchal translucency (NT) …

Objectives To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for
monogenic disorders in fetuses with structural malformations and normal results on …