Abstract
Background: Double trisomies are rare findings among products of conception and are often lethal to the developing embryo or fetus. Methods: Here we describe a double trisomy case with symptoms of threatened miscarriage at 9 weeks gestation. Ultrasound revealed an anembryonic pregnancy. Pregnancy was terminated by dilation and curettage at gestational age 11 weeks and 6 days. Histologic examination and chromosome microarray were performed on a formalin-fixed product of conception (POC) sample to identify the cause of the anembryonic pregnancy. Results: Chromosome microarray analysis revealed a female chromosome complement with double trisomies 10 and 20, arr(10,20)x3, consistent with a karyotype of 48,XX,+10,+20. Conclusion: To the best of our knowledge, this is the first reported case of double trisomy 10 and 20 in a POC. Due to nonspecific histopathological findings, chromosomal microarray is a powerful tool in identifying and differentiating chromosomal aneuploidies.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 245-248 |
| Number of pages | 4 |
| Journal | Lab Medicine |
| Volume | 55 |
| Issue number | 2 |
| DOIs | |
| State | Published - Mar 7 2024 |
Keywords
- chromosome microarray
- double trisomy 10 and 20
- genetics
- genomics
- laboratory genetics
- product of conception
- triplosensitivity
ASJC Scopus subject areas
- General Medicine
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