Abstract Turner syndrome affects 25–50 per 100,000 females and can involve multiple
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …

Prominent within this technology set are droplet-based microfluidic systems, 3 in which
passive microfluidic structures are used to rapidly generate and manipulate subnanoliter …

This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …

Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …

Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has transformed
prenatal care. Belgium was the first country to implement and fully reimburse NIPS as a first …

Circulating cell-free DNA (cfDNA) isolated from blood has been identified as a potential
biomarker in numerous fields, and has been the object of intensive research over the past …

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 …

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital
conditions that result in discordance between an individual's sex chromosomes, gonads …

In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered
trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has …

The aim of this Position Statement from the International Society for Prenatal Diagnosis
(ISPD) is to review the relevant published literature and make evidence-based …