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

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

Background It is uncertain how best to screen pregnant women for the presence of fetal
Down's syndrome: to perform first-trimester screening, to perform second-trimester …

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is
the eagerly awaited new edition of the discipline-leading text that has been at the forefront of …

Objective To assess the potential of first‐trimester sonography in the detection of fetal
abnormalities using an extended protocol that is achievable with reasonable resources of …

Objectives To study the outcome of pregnancy in chromosomally normal fetuses with
increased nuchal translucency thickness (NT), with respect to fetal loss, structural defects …

Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an
undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT …

Maternal serum screening for neural tube defects and fetal aneuploidy in the second
trimester has been incorporated into obstetrical practice over the past two decades. Now, as …

The recent editorial by Cheryl B. Iglesia, MD, 1 was very helpful in sorting through all the
data on menopausal hormone therapy. However, it is unlikely, as implied by the …

In this overview the current knowledge of the relationship between an increased nuchal
translucency (NT) measurement and fetal heart structure and function in chromosomally …