Cell-Free DNA: Screening for Single-Gene Disorders and Determination of Fetal Rhesus D Genotype

Obstet Gynecol Clin North Am. 2018 Mar;45(1):27-39. doi: 10.1016/j.ogc.2017.11.001.

Abstract

The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies.

Keywords: Noninvasive prenatal testing; Prenatal diagnosis; Prenatal screening; Rhesus D genotype; Single-gene disorders; cfDNA.

Publication types

  • Review

MeSH terms

  • Cell-Free Nucleic Acids*
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing / methods*
  • Humans
  • Pregnancy
  • Prenatal Diagnosis
  • Rh Isoimmunization / diagnosis*
  • Rh Isoimmunization / genetics
  • Rh-Hr Blood-Group System / genetics

Substances

  • Cell-Free Nucleic Acids
  • Rh-Hr Blood-Group System
  • Rho(D) antigen