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 …

The discovery of cell-free tumor and fetal DNA molecules in the plasma of cancer patients
and pregnant women, respectively, has opened up exciting opportunities in molecular …

Plasma consists of DNA released from multiple tissues within the body. Using genome-wide
bisulfite sequencing of plasma DNA and deconvolution of the sequencing data with …

Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …

Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase
deficiency clinical practice guideline published by the Endocrine Society in 2010 …

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 …

It is paramount that any child or adolescent with a suspected disorder of sex development
(DSD) is assessed by an experienced clinician with adequate knowledge about the range of …

Plasma DNA obtained from a pregnant woman was sequenced to a depth of 270× haploid
genome coverage. Comparing the maternal plasma DNA sequencing data with the parental …

Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis, with no
presynthesized hormones stored for immediate release. Cholesterol is the common …

Objective Accurate prenatal diagnosis of genetic conditions can be challenging and usually
requires invasive testing. Here, we demonstrate the potential of next‐generation sequencing …