Yin Yixuan, Zhu Hui, Qian Yeqing, Jin Jinglei, Mei Jin, Dong Minyue
Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
Prenatal Diagnosis Center, Hangzhou Municipal Women's Hospital, Hangzhou Maternal and Child Health Care Hospital, Hangzhou 310008, China.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):403-408. doi: 10.3785/j.issn.1008-9292.2019.08.09.
To analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy.
A total of 2057 women with twin-pregnancy between 12-26 weeks were recruited from Women's Hospital, Zhejiang University School of Medicine, Hangzhou Municipal Women's Hospital and Jiaxing Maternal and Child Health Hospital during February 2015 to August 2018. The cell-free DNA was extracted from the peripheral blood sample for DNA library, and non-invasive prenatal testing (NIPT) was performed by high-throughput sequencing technique. The fetal karyotype analysis or neonatal karyotype analysis was performed in pregnant women with fetal chromosome aneuploidy, and all subjects were followed up. The efficiency of NIPS testing for twin aneuploidy was calculated.
NIPS revealed chromosome abnormalities in 11 out of 2057 twin pregnant women, 9 cases were confirmed chromosome abnormalities, 2 cases were normal and no false negative cases. In this screening, the detection rate, sensitivity, specificity, positive predictive value, false positive rate of NIPS were 100.00%, 100.00%, 99.90%, 81.82%, 0.10%. Those were 100.00%, 100.00%, 99.95%, 87.50% and 0.05% for trisomy 21, 100.00%, 100.00%, 100.00%, 100.00%, 0.00% for trisomy18, and the specificity and false positive rate for trisomy13 were 99.95% and 0.05%, respectively.
NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies,and it is of value in clinical application.
分析双胎妊娠胎儿染色体非整倍体无创产前筛查（NIPS）的结果。
2015年2月至2018年8月期间，从浙江大学医学院附属妇产科医院、杭州市妇产科医院和嘉兴市妇幼保健院招募了共2057例孕12 - 26周的双胎妊娠妇女。从外周血样本中提取游离DNA构建DNA文库，采用高通量测序技术进行无创产前检测（NIPT）。对胎儿染色体非整倍体的孕妇进行胎儿核型分析或新生儿核型分析，并对所有受试者进行随访。计算NIPS检测双胎非整倍体的效率。
2057例双胎妊娠妇女中，NIPS检测出11例染色体异常，9例被确诊为染色体异常，2例正常，无假阴性病例。本次筛查中，NIPS的检出率、敏感性、特异性、阳性预测值、假阳性率分别为100.00%、100.00%、99.90%、81.82%、0.10%。21 - 三体的分别为100.00%、100.00%、99.95%、87.50%、0.05%；18 - 三体的分别为100.00%、100.00%、100.00%、100.00%、0.00%；13 - 三体的特异性和假阳性率分别为99.95%和0.05%。
NIPS可快速、准确地检测双胎妊娠胎儿染色体非整倍体，具有临床应用价值。
