Biomaterial Database

Noninvasive Prenatal Screening for Single-Gene Disorders. 2023

Zenobia Gonsalves, and Susan Klugman

Department of Obstetrics and Gynecology and Women's Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York.

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.

UI	MeSH Term	Description	Entries
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000081182	Noninvasive Prenatal Testing	The analysis of cell-free fetal DNA or the DNA from fetal cells that are biopsied from a pregnant woman’s blood, to screen for genetically-determined traits and genetic abnormalities.	Noninvasive Prenatal Diagnosis,Noninvasive Prenatal Screening,Prenatal Cell-Free DNA Screening,Prenatal cfDNA Screening,Prenatal Cell Free DNA Screening,Prenatal Diagnosis, Noninvasive,Prenatal Screening, Noninvasive,Prenatal Testing, Noninvasive,cfDNA Screening, Prenatal
D012955	Societies, Medical	Societies whose membership is limited to physicians.	Medical Societies,Medical Society,Society, Medical