Noninvasive prenatal RHD genotyping by real-time polymerase chain reaction using plasma from D-negative pregnant women

Lan Zhou, John A. Thorson, Clark Nugent, Robertson D. Davenport, Suzanne H. Butch, W. John Judd

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

Objective: Prenatal noninvasive determination of fetal Rh status is an important aid to the management of hemolytic disease of the fetus and newborn. We performed real-time polymerase chain reaction on fetal DNA derived from maternal plasma to determine fetal Rh status. Study design: Cell-free plasma DNA from 98 D-negative pregnant women was tested for the presence of exons 4, 5, and 10 of RHD. The presence of fetal DNA was confirmed by detection of SRY or biallelic insertion/deletion polymorphisms in the maternal plasma and buffy coat. Results: Seventy-two D-positive infants and 26 D-negative infants were determined by serologic studies. All 3 RHD exon sequences were detected in 68 of 72 mothers of D-positive infants. The presence of fetal DNA in mothers of D-negative infants was confirmed in all 10 boys and in 14 of 16 girls. Conclusion: Fetal RHD genotyping in this study correctly predicted fetal Rh status in 92 of 98 (94%) cases.

Original languageEnglish (US)
Pages (from-to)1966-1971
Number of pages6
JournalAmerican Journal of Obstetrics and Gynecology
Volume193
Issue number6
DOIs
StatePublished - Dec 2005

Keywords

  • Fetal DNA in maternal plasma
  • Prenatal RHD genotyping
  • Real-time polymerase chain reaction

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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