Prenatal diagnosis of partial duplication chromosome 21q11.2–21q21.1: A case report and literature review

IF 2.2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-09-01 DOI:10.1016/j.tjog.2024.10.027

Ayuko Tanaka, Daisuke Higeta, Kanako Toyoda, Akihito Morita, Tatsuya Sato, Akira Iwase

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引用次数: 0

Abstract

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.

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部分重复染色体21q11.2-21q21.1产前诊断1例并文献复习

目的报道来自21q11.2-q21.1染色体的小多余标记染色体的产前诊断。病例报告一名40岁的妇女在妊娠13周时因母亲高龄接受了无创产前检查（NIPT）。21三体的阳性发现促使了遗传咨询和随后的羊膜穿刺术。羊膜穿刺术显示核型为47，xx,+mar。亲本核型正常，产前超声检查无明显异常。在后续的遗传咨询会议上，进行了额外的产前基因检测，特别是羊膜穿刺术，包括基于微阵列的比较基因组杂交（aCGH）。培养的羊膜细胞的aCGH分析显示，21q11.2-q21.1片段有1.4 MB的重复，这与唐氏综合症无关，夫妇俩决定继续怀孕。这名婴儿出生时没有唐氏综合症的症状，直到6个月大时才出现这种症状。结论这是一个临床上和遗传学上独一无二的NIPT和aCGH结果不一致的病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.