A case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing and genetic amniocentesis

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.2024.10.024

Hyen Chul Jo , Ji Eun Park , Jong Chul Baek , Juseok Yang

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引用次数: 0

Abstract

Objective

To report a case of mosaic trisomy 17 with inconsistent findings between noninvasive prenatal testing (NIPT) and genetic amniocentesis.

Case report

A 34-year-old primigravid woman presented for antenatal care at 9 weeks of gestation. At 13 weeks, she opted for NIPT based on next-generation sequencing, which yielded a negative result. Five weeks later, fetal intracardiac calcification was observed, prompting genetic amniocentesis at 18 weeks. The initial amniocentesis revealed a karyotype of mos 47,XX,+17[5]/46,XX[25]inv(9) (p12q13) in 5 out of 30 colonies, suggesting possible pseudo-mosaicism. A repeat amniocentesis two weeks later confirmed mosaic trisomy 17 and inversion 9 of p12q13 in 10 out of 34 colonies from two cultures. Despite normal prenatal ultrasound findings, the patient chose to terminate the pregnancy due to the potential for severe clinical outcomes associated with mosaic trisomy 17. Postnatal work-up was declined.

Conclusion

This case highlights the limitations of NIPT and the importance of confirmatory diagnostic testing. The findings underscore the need for meticulous genetic counseling and informed consent, particularly in cases with suspected chromosomal anomalies.

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无创产前检查与遗传羊膜穿刺术结果不一致的马赛克17三体1例

目的报告1例无创产前检查（NIPT）与羊膜穿刺术检查结果不一致的嵌合17三体。病例报告一名34岁初产妇在妊娠9周提出产前保健。在13周时，她选择了基于下一代测序的NIPT，结果为阴性。5周后，观察到胎儿心内钙化，提示在18周时进行遗传羊膜穿刺术。最初的羊膜穿刺术显示30个菌落中有5个核型为mo47，XX,+17[5]/46,XX[25]inv(9) (p12q13)，提示可能存在伪镶嵌现象。两周后的重复羊膜穿刺术证实了来自两种培养的34个菌落中有10个菌落存在17嵌合三体和p12q13倒位。尽管产前超声检查结果正常，但由于与马赛克17三体相关的严重临床结果的可能性，患者选择终止妊娠。产后检查被拒绝。结论本病例突出了NIPT的局限性和确诊性诊断检测的重要性。研究结果强调了细致的遗传咨询和知情同意的必要性，特别是在疑似染色体异常的情况下。

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.