Context Noninvasive prenatal determination of fetal sex using cell-free fetal DNA provides
an alternative to invasive techniques for some heritable disorders. In some countries this …

A newborn infant with ambiguous genitalia is a complex enough problem to unravel without
any further clouding by confusing terms. The nomenclature 'intersex','hermaphrodite'and …

Omega-1, a glycosylated T2 ribonuclease (RNase) secreted by Schistosoma mansoni eggs
and abundantly present in soluble egg antigen, has recently been shown to condition …

BACKGROUND Cell-free fetal nucleic acids (cffNA) can be detected in the maternal
circulation during pregnancy, potentially offering an excellent method for early non-invasive …

Prenatal fetal sex determination is undertaken in women at high risk of serious genetic
disorders affecting a specific sex. Traditionally, this is undertaken by invasive testing, usually …

Background Cell-free fetal DNA (cffDNA) can be detected in maternal blood during
pregnancy, opening the possibility of early non-invasive prenatal diagnosis for a variety of …

Early prenatal diagnosis of fetal sex is necessary to optimize pregnancy management in
families known to be at risk of some heritable disorders. The demonstration of cell-free fetal …

BACKGROUND Noninvasive fetal aneuploidy detection by use of free DNA from maternal
plasma has recently been shown to be achievable by whole genome shotgun sequencing …

Objective The aim of this study was to develop a pyrophosphorolysis‐activated
polymerization (PAP) assay for non‐invasive prenatal diagnosis (NIPD) of β‐thalassemia …

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused
by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal …