Marfan syndrome (MFS) is a complex connective tissue disease that is primarily
characterized by cardiovascular, ocular and skeletal systems disorders. Despite its rarity …

This paper focuses on the question of,“When is the best time to identify an individual at risk
for a treatable genetic condition?” In this review, we describe a framework for considering …

Objective Prenatally detected central nervous system (CNS) anomalies present a diagnostic
challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and …

Objective About 3% of newborns show malformations, with about 20% of the affected having
genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly …

Objective This study aimed to determine the incremental yield of prenatal exome
sequencing over chromosomal microarray or G-banding karyotype in fetuses with:(1) …

Abstract Infertility affects 8–12% of couples globally, and the male factor is a primary cause
in~ 50% of couples. Male infertility is a multifactorial reproductive disorder, which can be …

In this review we discuss epigenetic disorders that result from aberrations in genes linked to
epigenetic regulation. We describe current testing methods for the detection of copy number …

Purpose Exome sequencing (ES) has the potential to improve management of congenital
anomalies and neurodevelopmental disorders in fetuses, infants, and children. US payers …

The fields of human genetics and genomics have generated considerable knowledge about
the mechanistic basis of many diseases. Genomic approaches to diagnosis, prognostication …

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