Abstract：
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.
摘要：
三体7是在扩展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（RAT）类型。NIPT三体7阳性妊娠的遗传咨询仍然不容易，因为父母可能担心不良妊娠结局的可能性，胎儿畸形和侵入性程序的必要性，以确认胎儿镶嵌三体7和单亲二体（UPD）7。这篇评论提供了有关NIPT三体7阳性妊娠遗传咨询的最新问题的全面信息。
