Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable

Charintip Somprasit, Monica Aguinaga, Pauline L. Cisneros, Sergey Torsky, Sandra A. Carson, John E. Buster, Paula Amato, Sallie Lou McAdoo, Joe Leigh Simpson, Farideh Z. Bischoff

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Many couples are now seeking preimplantation genetic diagnosis (PGD) and fluorescence in-situ hybridization (FISH) as an alternative approach to avoid spontaneous abortion by ensuring transfer of presumed chromosomally normal embryos. This case report describes unexpected findings in a couple having three spontaneous abortions and two failed IVF cycles. In two IVF PGD cycles, four of 13 (30.8%) embryos (blastomeres) demonstrated duplication involving the Down syndrome critical region, detectable by a locus specific chromosome 21 probe. The same duplication was subsequently detected by FISH in 66 of 1002 (6.6%) sperm nuclei, demonstrating paternal gonadal mosaicism. Cytogenetic studies of peripheral blood revealed normal karyotypes in both the male and female partners. This identification of paternal germ cell or gonadal mosaicism suggests that analysis of sperm nuclei prior to undergoing IVF with PGD may be of value in patients with recurrent spontaneous abortions or multiple failed IVF.

Original languageEnglish (US)
Pages (from-to)225-230
Number of pages6
JournalReproductive biomedicine online
Volume9
Issue number2
DOIs
StatePublished - Aug 2004
Externally publishedYes

Keywords

  • FISH
  • Gonadal mosaicism
  • PGD
  • Recurrent spontaneous abortion
  • Spermatozoa

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology
  • Developmental Biology

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