Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for
cytogenetics and molecular testing.“Structural anomalies” include non-transient anatomic …

Introduction: Prenatal exome sequencing (ES) allows parents the opportunity to obtain
arapid molecular diagnosis of monogenic etiology when their fetus is found to have …

The routine assessment to determine the genetic etiology for fetal ultrasound anomalies
follows a sequential approach, which usually takes about 6–8 weeks turnaround time (TAT) …

Background Emerging studies suggest that low‐coverage massively parallel copy number
variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis …

Disclaimer: This Points to Consider document is designed primarily as an educational
resource for clinical laboratory geneticists to help them provide quality clinical laboratory …

Purpose Absence of heterozygosity (AOH) is a genetic characteristic known to cause human
genetic disorders through autosomal recessive or imprinting mechanisms. However, the …

Objective The diagnostic yield for congenital heart defects (CHD) with routine genetic testing
is around 10%–20% when considering pathogenic CNVs or aneuploidies as positive …

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of
common aneuploidies in a population-based study, a total of 86,262 single pregnancies …

STUDY QUESTION Can multiple-site low-pass genome sequencing (GS) of products of
conception (POCs) improve the detection of genetic abnormalities, especially …

Apparently balanced chromosomal structural rearrangements are known to cause male
infertility and account for approximately 1% of azoospermia or severe oligospermia …