Taiwanese journal of obstetrics & gynecology · 2025
Prenatal diagnosis of partial duplication chromosome 21q11.2-21q21.1: A case report and literature review.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
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Tanaka Ayuko, Higeta Daisuke, Toyoda Kanako, Morita Akihito, Sato Tatsuya, Iwase Akira
Аннотация
OBJECTIVE: We report the prenatal diagnosis for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1.
CASE REPORT: A 40-year-old woman presenting at 13 weeks of gestation underwent noninvasive prenatal testing (NIPT) due to advanced maternal age. A positive finding for trisomy 21 urged genetic counseling and subsequent amniocentesis. Amniocentesis revealed a karyotype of 47, XX,+mar. The parental karyotypes were normal, and prenatal ultrasound findings were unremarkable. At a follow-up genetic counseling session, additional prenatal genetic testing was undertaken, specifically, amniocentesis including microarray-based comparative genomic hybridization (aCGH). The aCGH analysis of cultured amniocytes revealed a 1.4 MB duplication of the 21q11.2-q21.1 segment, which is not associated with Down syndrome, and the couple decided to continue her pregnancy. The infant was born without the symptoms of Down syndrome and remains to be so till six months.
CONCLUSION: We thus present a clinically and genetically unique case of discordant NIPT and aCGH results.
CASE REPORT: A 40-year-old woman presenting at 13 weeks of gestation underwent noninvasive prenatal testing (NIPT) due to advanced maternal age. A positive finding for trisomy 21 urged genetic counseling and subsequent amniocentesis. Amniocentesis revealed a karyotype of 47, XX,+mar. The parental karyotypes were normal, and prenatal ultrasound findings were unremarkable. At a follow-up genetic counseling session, additional prenatal genetic testing was undertaken, specifically, amniocentesis including microarray-based comparative genomic hybridization (aCGH). The aCGH analysis of cultured amniocytes revealed a 1.4 MB duplication of the 21q11.2-q21.1 segment, which is not associated with Down syndrome, and the couple decided to continue her pregnancy. The infant was born without the symptoms of Down syndrome and remains to be so till six months.
CONCLUSION: We thus present a clinically and genetically unique case of discordant NIPT and aCGH results.