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

OBJECTIVES: To ascertain the outcome in fetuses with isolated complete ACC and partial
ACC. DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY …

Background Improved technology and advances in clinical testing have resulted in
increased detection rates of congenital anomalies during pregnancy, resulting in more …

ABSTRACT OBJECTIVE To establish the prevalence of submicroscopic genetic copy
number variants (CNVs) in fetuses with a structural ultrasound anomaly (restricted to one …

Microarray testing is the recommended first‐tier diagnostic test for women who undergo
invasive prenatal diagnostic procedures. It is well‐established that microarray analysis …

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

In prenatal diagnosis, chromosomal microarray (CMA) has not yet fully replaced
conventional karyoty** but has rapidly become the recommended test in pregnancies with …

Background. Fetal malformations and other structural abnormalities are relatively frequent
findings in the course of routine prenatal ultrasonographic examination. Due to their …

The advent of new genetic and genomic technologies may cause friction with the principle of
respect for autonomy and demands a rethinking of traditional interpretations of the concept …

Abstract Simpson‐Golabi‐Behmel syndrome (SGBS) is an X‐linked multiple congenital
anomalies and overgrowth syndrome caused by a defect in the glypican‐3 gene (GPC3) …