Parental karyotype may reveal the source of a pregnancy loss even in the presence of a reportedly euploid fetal karyotype

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Abstract

Objective: To present a case of a fetal loss in which a normal fetal karyotype was obtained by banding studies. Identification of an abnormal maternal karyotype prompted subsequent reanalysis using fluorescence in situ hybridization (FISH). Design: Case report. Setting: University-affiliated IVF center. Patient(s): A 32-year-old woman, G1 P0, underwent a fetal loss at 8 weeks, and a suction curettage was performed. The patient had a previous first-trimester loss. Intervention(s): The fetal tissue was evaluated by banding studies and found to be normal. Parental karyotyping was performed, and the fetal tissue was reanalyzed by FISH. Main Outcome Measure(s): Analysis of fetal karyotype by targeted FISH. Result(s): Maternal karyotype demonstrated a translocation [46,XX, t(8;10)(q24.3:q25.2)]. The fetal tissue was reanalyzed by FISH, and a segment of chromosome 10 was found on chromosome 8. Conclusion(s): A normal fetal karyotype, as measured by banding, does not exclude a genetic etiology for pregnancy loss. In this case, maternal translocation prompted the genetics laboratory to search for a small segment of translocated extra chromosomal material. This demonstrated that despite the finding of a normal fetal karyotype, in some cases parental karyotyping may have value.

Original languageEnglish
Pages (from-to)1120.e9-1120.e10
JournalFertility and Sterility
Volume95
Issue number3
DOIs
StatePublished - 1 Mar 2011

Keywords

  • FISH
  • Recurrent pregnancy loss
  • aneuploidy
  • karyotype

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