TY - JOUR
T1 - The first reported case of double trisomy 10 and 20 in a product of conception
AU - De La Vega, Joshua Fernandez
AU - Lahiji, Arian Pourmehdi
AU - Raymond, Caitlin
AU - Han, Song
AU - Thaker, Harshwardhan
AU - Dong, Jianli
N1 - Publisher Copyright:
© The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved.
PY - 2024/3/7
Y1 - 2024/3/7
N2 - 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.
AB - 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.
KW - chromosome microarray
KW - double trisomy 10 and 20
KW - genetics
KW - genomics
KW - laboratory genetics
KW - product of conception
KW - triplosensitivity
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U2 - 10.1093/labmed/lmad052
DO - 10.1093/labmed/lmad052
M3 - Article
C2 - 37294932
AN - SCOPUS:85187200371
SN - 0007-5027
VL - 55
SP - 245
EP - 248
JO - Lab Medicine
JF - Lab Medicine
IS - 2
ER -