无创产前检测（NIPT）7 三体综合征阳性孕妇的遗传咨询

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-05-01 DOI:10.1016/j.tjog.2024.03.003

Chih-Ping Chen

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引用次数: 0

摘要

在扩大的全基因组无创产前检测（NIPT）中，7 三体综合征是最常见的罕见常染色体三体综合征（RATs）。NIPT 7 三体综合征阳性妊娠的遗传咨询仍不容易，因为父母可能会担心不良妊娠结局的可能性、胎儿畸形以及为确认胎儿马赛克 7 三体综合征和单亲 7 三体综合征（UPD）而进行侵入性手术的必要性。本综述全面介绍了有关 NIPT 7 三体综合征阳性妊娠遗传咨询的最新问题。

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Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies

Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may worry about the likelihood of adverse pregnancy outcomes, fetal abnormality and the necessity of invasive procedures for confirmation of fetal mosaic trisomy 7 and uniparental disomy (UPD) 7. This review provides a comprehensive information on the update issues concerning genetic counseling of NIPT trisomy 7-positive pregnancies.

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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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