[Skip to Content]
[Skip to Content Landing]
September 24, 2014

Personalized Genomic Medicine and Prenatal Genetic Testing

Author Affiliations
  • 1Obstetrics and Gynecology and Women’s Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York

Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.

JAMA. 2014;312(12):1203-1205. doi:10.1001/jama.2014.12205

Just 30 years ago, Merkatz et al1 reported an association between low maternal serum alpha-fetoprotein and trisomy 18, proving in principal that information about a fetus could be learned prenatally. Today, genetic testing directly on fetal cells can provide a complete karyotype, and use of chromosomal microarray analysis (CMA) can generate information regarding more than 80 syndromes caused by microdeletions and microduplications.2 Noninvasive prenatal testing on cell-free fetal DNA in maternal serum is also being integrated into prenatal care, providing, as early as the first trimester, highly sensitive screening for the common trisomies, sex chromosome aneuploidies, and syndromes such as velocardiofacial syndrome (22q11 deletion).3

First Page Preview View Large
First page PDF preview
First page PDF preview