Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

Haemophilia A and B are hereditary haemorrhagic disorders characterised by deficiency or
dysfunction of coagulation protein factors VIII and IX, respectively. Recurrent joint and …

Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …

Background Cell‐free fetal DNA (cff DNA) non‐invasive prenatal testing (NIPT) is rapidly
expanding, and is being introduced at varying rates depending on country and condition …

Non‐invasive prenatal testing (NIPT) for aneuploidy using cell‐free DNA in maternal plasma
is revolutionizing prenatal screening and diagnosis. We review NIPT in the context of …

The past decade has seen the development of technologies that have revolutionized
prenatal genetic testing; that is, genetic testing from conception until birth. Genome-wide …

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two
main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory …

Objective To report the performance of massively parallel sequencing (MPS) based prenatal
noninvasive fetal trisomy test based on cell‐free DNA sequencing from maternal plasma in a …

Over the past quarter century the sex ratio at birth (SRB) has risen above natural levels in a
number of countries, mostly in Asia. This rise has been made possible in populations with …

Detection of cell-free tumor DNA in the blood has offered promise as a cancer biomarker, but
practical clinical implementations have been impeded by the lack of a sensitive and …