Clinical course and genetic analysis of a case of the amniocentesis showing chromosome 6 trisomy mosaicism

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-05-01 DOI:10.1016/j.tjog.2024.03.009

Naoya Kitamura , Yuki Ito , Tomoko Kawai , Hiromi Kamura , Michihiro Yamamura , Haruna Okubo , Akihiro Hasegawa , Momoko Inoue , Ken Takahashi , Michiko Miya , Hiroshi Kawame , Osamu Samura , Aikou Okamoto

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引用次数: 0

Abstract

Objective

Herein, we present a case of mosaic trisomy 6 detected by amniocentesis.

Case report

Amniocentesis (G-banding) was performed at 17 weeks of gestation; the results were 47,XY,+6[3]/46,XY[12]. Fetal screening ultrasonography showed no morphological abnormalities, and the parents desired to continue the pregnancy. The infant was delivered vaginally at 39 weeks' gestation. The male infant weighed 3002 g at birth with no morphological abnormalities. G-banding karyotype analysis performed on the infant's peripheral blood revealed 46,XY[20]. FISH analysis revealed trisomy signals on chromosome 6 in 1–4 out of 100 cells from the placenta. The single nucleotide polymorphism microarray of the umbilical cord blood revealed no abnormalities. Methylation analysis of umbilical cord blood revealed no abnormalities in PLAGL1. No disorders were observed at one year of age.

Conclusion

When amniocentesis reveals chromosomal mosaicism, it is essential to provide a thorough fetal ultrasound examination and careful genetic counseling to support the couples’ decision-making.

查看原文本刊更多论文

一例羊水穿刺显示 6 号染色体三体嵌合的临床病程和遗传学分析

病例报告：妊娠 17 周时进行羊膜腔穿刺（G-带），结果为 47,XY,+6[3]/46,XY[12]。胎儿超声筛查显示没有形态异常，父母希望继续妊娠。婴儿在妊娠 39 周时经阴道分娩。男婴出生时体重 3002 克，无形态异常。对婴儿外周血进行的 G-banding 染色体核型分析显示为 46,XY[20]。FISH 分析显示，100 个胎盘细胞中有 1-4 个出现 6 号染色体三体信号。脐带血的单核苷酸多态性微阵列没有发现异常。脐带血甲基化分析显示 PLAGL1 没有异常。结论当羊膜腔穿刺术发现染色体马赛克时，必须进行全面的胎儿超声波检查和仔细的遗传咨询，以帮助夫妇做出决定。

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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.