Noninvasive Prenatal Screening for Single-Gene Disorders

Single-gene disorders (SGDs), also known as monogenic disorders, are caused by pathogenic variants at individual loci. Prenatal cell-free DNA screening for SGDs has been investigated for decades. Detecting paternal and de novo variants may be somewhat straightforward, whereas detecting maternally inherited variants poses a significant challenge. Although commercially available in both high-risk and low-risk patients, many limitations exist. The use of SGDs is not supported by professional medical societies.