Prenatal diagnosis of hereditary diseases has substantially altered the way medical
geneticists are helping families affected by genetic disorders. However, the risk of …

This year, the editors of Prenatal Diagnosis met on an October sunny day in Bethesda, MD,
to make plans for the journal's next year (Figure 1). Following our tradition first established …

Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss
(ARNSHL) has been rarely reported until recent years. However, the previous method could …

Background: Methodological advancements, such as relative haplotype and relative
mutation dosage analyses, have enabled non-invasive prenatal diagnosis of autosomal …

Abstract In July 2017, the Welsh government published The genomics for precision
medicine strategy (Welsh Government 2017). The strategy outlines the principles and …

Discovery of cell-free fetal DNA (cffDNA) in maternal circulation has brought non-invasive
prenatal testing (NIPT) for genetic disorders into reality. NIPT includes screening (NIPS) of …

if appropriate genes and regions are chosen, selective tests can be more efficient, more
affordable, and more easily implemented in clinical practice. One of the major difficulties in …