NIPT假阴性新生儿18-三体一例及文献复习

发布时间：2018-03-22 11:40

本文选题：胎儿期　切入点：三体　出处：《中国妇产科临床杂志》2015年03期 　论文类型：期刊论文

【摘要】：患者33岁,孕6产0,主因停经40+6周,阴道流液1d于2014年4月8日入首都医科大学附属北京妇产医院。患者平素月经规律,末次月经:2013年6月27日,预产期:2014年4月4日,停经30d尿hCG(+),孕4个月始觉胎动,核对孕周无误,孕16周21-三体综合征筛查1:560低风险,18-三体综合征1:11 000低风险,孕24周胎儿畸形筛查B超提示:单活胎,超声孕周22+1周,胎儿双侧脉络丛囊肿(右侧1.3cm×0.8cm,左侧1.4cm×0.9cm),胎儿双侧脑室内径均约1cm,处于正常值高限,胎儿小于相应孕周,门诊医师建议患者行胎儿染色体检查,患者顾虑穿刺风险而拒绝,遂抽母亲静脉血行胎儿无创DNA即NIPT(Noninvasive Prenatal Testing)检测,孕26周NIPT结果回报:21、18、13号染色体均未检测到三体异常,复查胎儿B超示双侧脉络丛囊肿依然存在,但有所减小(右侧1.0cm×0.6cm,左侧0.6cm×0.4cm),再次向其强调行胎儿染色体检查的必要性,因患者已知晓NIPT结果,故再次拒绝。
[Abstract]:The patient was 33 years old and had 0 pregnancy. The main cause was menopause for 40 6 weeks. The vaginal fluid was admitted to Beijing Obstetrics and Gynecology Hospital affiliated to Capital Medical University on April 8, 2014. The patient's menstruation was regular, the last menstruation was June 27, 2013, and the due date: April 4, 2014. After 30 days of menopause, the urine hCGs were found to be motility after 4 months of gestation, and the check of gestational weeks was correct. At the 16th week of gestation, 21-trisomy syndrome was screened for 1: 560 low risk trisomy syndrome at 1:11 000 low risk, and 24 weeks fetal malformation screening showed that: single live fetus, ultrasound gestational week 22 weeks, Fetal choroid plexus cyst (right 1.3cm 脳 0.8 cm, left side 1.4cm 脳 0.9 cm), fetal bilateral ventricular diameter were all about 1 cm, in the high limit of normal value, the fetus was less than the corresponding gestational week. The outpatient doctor suggested that the patient should take fetal chromosome examination, and the patient refused because of the risk of puncture. Then the maternal venous blood was taken to detect the fetal noninvasive DNA (NIPT(Noninvasive Prenatal testing). The results of NIPT at 26 weeks of gestation showed that no trisomy abnormality was detected on chromosome 13 and chromosome 21. The examination of fetal B-mode ultrasound showed that bilateral choroid plexus cysts still existed. However, there was a decrease (right 1.0cm 脳 0.6 cm, left 0.6cm 脳 0.4 cm), emphasizing again the necessity of fetal chromosome examination, because the patient knew the result of NIPT, so he refused again.
【作者单位】：首都医科大学附属北京妇产医院;北京市顺义区空港医院妇产科;
【分类号】：R714.5

【参考文献】