The role of DNA microarrays in the evaluation of fetal death

Uma M. Reddy, Grier P. Page, George R. Saade

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Fetal death occurs in 15% of clinically recognized pregnancies. Cytogenetic abnormalities are present in 50% of spontaneous abortions (fetal deaths<20weeks) whereas the rate is 6% to 13% for stillbirths (fetal deaths≥20weeks). Microarray has been demonstrated to increase the diagnosis of genetic abnormalities by providing coverage of the entire genome at a higher density, detecting as small as 50 to 100kb deletions or duplications, known as copy number changes. Microarray is particularly suited for evaluation of fetal death because DNA can still be analyzed in macerated fetuses and nonviable tissue, two situations where culturing and karyotyping is known to have low yield. Microarray has already proven successful in providing additional genetic information beyond karyotype in spontaneous abortion. The few studies on the use of microarray in stillbirth evaluation have been promising, demonstrating an increase in the diagnosis of clinically relevant genetic abnormalities when compared with karyotype. As the cost and technology improve, microarray may ultimately become the first line screen for genetic abnormalities in stillbirth. The accurate diagnosis of a genetic abnormality as the cause for fetal death may provide closure for families, prevent unnecessary treatments, and enable clinicians to more accurately counsel and manage subsequent pregnancies.

Original languageEnglish (US)
Pages (from-to)371-375
Number of pages5
JournalPrenatal Diagnosis
Volume32
Issue number4
DOIs
StatePublished - Apr 1 2012

Keywords

  • Array CGH
  • Fetal death
  • Fetal demise
  • General cytogenetics
  • Spontaneous abortion
  • Stillbirth

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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