Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population

Am J Obstet Gynecol. 2012 Nov;207(5):374.e1-6. doi: 10.1016/j.ajog.2012.08.033. Epub 2012 Sep 19.

Abstract

Objective: We sought to assess performance of noninvasive prenatal testing for fetal trisomy in a routinely screened first-trimester pregnancy population.

Study design: This was a cohort study of 2049 pregnant women undergoing routine screening for aneuploidies at 11-13 weeks' gestation. Plasma cell-free DNA analysis using chromosome-selective sequencing was used. Laboratory testing on a single plasma sample of 2 mL was carried out blindly and results were provided as risk score (%) for trisomies 21 and 18.

Results: Trisomy risk scores were given for 95.1% (1949 of 2049) of cases including all 8 with trisomy 21 and 2 of the 3 with trisomy 18. The trisomy risk score was >99% in the 8 cases of trisomy 21 and 2 of trisomy 18 and <1% in 99.9% (1937 of 1939) of euploid cases.

Conclusion: Noninvasive prenatal testing using chromosome-selective sequencing in a routinely screened population identified trisomies 21 and 18 with a false-positive rate of 0.1%.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Adult
  • Chorionic Gonadotropin, beta Subunit, Human / blood
  • Chromosomes, Human, Pair 18
  • Cohort Studies
  • DNA / blood
  • Down Syndrome / diagnosis*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Maternal Serum Screening Tests / methods*
  • Pregnancy
  • Pregnancy Trimester, First / blood*
  • Pregnancy-Associated Plasma Protein-A / analysis
  • Sensitivity and Specificity
  • Sequence Analysis, DNA / methods*
  • Trisomy / diagnosis*

Substances

  • Chorionic Gonadotropin, beta Subunit, Human
  • DNA
  • Pregnancy-Associated Plasma Protein-A

Supplementary concepts

  • Chromosome 18, trisomy 18p