Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.
Taiwan J Obstet Gynecol. 2024 May;63(3):293-296. doi: 10.1016/j.tjog.2024.03.003.
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.
三体性 7 是在扩大的全基因组非侵入性产前检测 (NIPT) 中检测到的最常见的罕见常染色体三体性 (RAT) 类型。NIPT 三体性 7 阳性妊娠的遗传咨询仍然不容易，因为父母可能会担心不良妊娠结局、胎儿异常以及对胎儿嵌合三体性 7 和单亲二体性 7 (UPD) 7 进行确认的侵入性程序的必要性。本综述提供了有关 NIPT 三体性 7 阳性妊娠遗传咨询的最新问题的全面信息。
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