关键词: cytogenetic analysis fetal echocardiography genomic structural variation hypoechoic swelling in vitro fertilization intracytoplasmic sperm injection nuchal translucency measurement single embryo transfer

来  源:   DOI:10.7759/cureus.49209   PDF(Pubmed)

Abstract:
Increased nuchal translucency (NT) leads to a higher risk of fetal structural abnormalities. The measurement between 11 and 14 weeks gestation is a reliable marker for associated chromosomal abnormalities. Here, we present the case of a 33-year-old female with isolated high NT in the range of 5.6 mm at 12 weeks of gestational age. She was evaluated for chromosomal and structural abnormality and followed up meticulously. None of the tests showed any chromosomal or obvious structural abnormality. Fetal echocardiography revealed no structural cardiac defect. The pregnancy was uneventful and she delivered a healthy baby at term through lower (uterine)-segment cesarean section. The baby girl is living in good health without any developmental abnormalities. Although there is a high risk of chromosomal/structural defects with increased NT, it is not mandatory to terminate the pregnancy without a thorough evaluation.
摘要:
颈项半透明度(NT)的增加导致胎儿结构异常的高风险。妊娠11至14周之间的测量是相关染色体异常的可靠标记。这里,我们介绍了1例33岁女性,在胎龄12周时,孤立的高NT为5.6mm.对她的染色体和结构异常进行了评估,并进行了细致的随访。所有测试均未显示任何染色体或明显的结构异常。胎儿超声心动图显示无结构性心脏缺陷。怀孕顺利,她通过下(子宫)段剖宫产术在足月分娩了一个健康的婴儿。女婴身体健康,没有任何发育异常。尽管NT增加存在染色体/结构缺陷的高风险,在没有彻底评估的情况下终止妊娠不是强制性的。
公众号