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

被引：0
作者：
Chen, Chih-Ping [1 ,2 ,3 ,4 ,5 ,6 ]
机构：
[1] MacKay Mem Hosp, Dept Obstet & Gynecol, 92 Sect 2,Chung Shan North Rd, Taipei, Taiwan
[2] MacKay Mem Hosp, Dept Med Res, Taipei, Taiwan
[3] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan
[4] Natl Yang Ming Chiao Tung Univ, Inst Clin & Community Hlth Nursing, Taipei, Taiwan
[5] Natl Yang Ming Chiao Tung Univ, Sch Med, Dept Obstet & Gynecol, Taipei, Taiwan
[6] Asia Univ, Coll Med & Hlth Sci, Dept Med Lab Sci & Biotechnol, Taichung, Taiwan
来源：
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY | 2024年 / 63卷 / 03期
关键词：
Genetic counseling; NIPT; Rare autosomal trisomy; Trisomy; 7; MATERNAL UNIPARENTAL HETERODISOMY-7; SILVER-RUSSELL-SYNDROME; DISOMY; 7; DIAGNOSIS; EXPERIENCE; MOSAICISM;
D O I：
10.1016/j.tjog.2024.03.003
中图分类号：
R71 [妇产科学];
学科分类号：
100211 ;
摘要：
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. (c) 2024 Taiwan Association of Obstetrics & Gynecology. Publishing services by Elsevier B.V.
引用
收藏
页码：293 / 296
页数：4
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