Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-09-01 DOI:10.1016/j.tjog.2024.07.002

Chih-Ping Chen

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Abstract

Genetic counseling of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic duplication due to partial trisomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a duplication due to partial trisomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.

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羊膜腔穿刺术中 46 条染色体的细胞系与正常细胞系中部分三体综合症导致的重复的嵌合遗传咨询

在羊膜腔穿刺术中，与正常细胞系相关的 46 条染色体细胞系中的部分三体综合征导致的重复嵌合的遗传咨询仍然困难重重，因为部分三体综合征导致的嵌合重复在产前诊断中既可能与正常表型相关，也可能与异常表型相关。本文全面综述了羊膜腔穿刺时与正常细胞系相关的 46 条染色体的细胞系中因部分三体而导致重复的嵌合病例，以及各种咨询问题，如培养假象、培养的羊膜细胞与未培养的羊膜细胞之间及不同组织之间的细胞遗传学差异、围产期异常细胞系的逐渐减少及胎儿可能的良好结局等。所提供的信息对产科医生和遗传咨询师为希望在这种情况下保留婴儿的父母提供遗传咨询非常有用。

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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.

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