Zhu Hui, Miao Zhengyou, Qian Yeqing, Li Hongge, Jin Jinglei, He Jing, Dong Minyue
Key Laboratory of Reproductive Genetics, Ministry of Education, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.
Department of Gynaecology and Obstetrics, Jiaxing Maternal and Child Health Hospital, Jiaxing 314015, China.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 May 25;46(3):256-261. doi: 10.3785/j.issn.1008-9292.2017.06.05.
To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age.
A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed. And the relationship between maternal age and fetal common chromosomal aneuploidy was analyzed.
The sensitivity, specificity, positive and negative predictive value of NIPS were 100.00%, 99.96%, 91.67%, 100.00% for trisomy 21, 100.00%, 99.93%, 68.18%, 100.00% for trisomy 18, and 100.00%, 99.97%, 25.00%, 100.00% for trisomy 13. High-risk rate and true positive rate of trisomy 21 were positively correlated with the maternal age (all <0.01). There were significant differences in high-risk rate and true positive rate between 35-37 year old groups and 38-40 year old groups (all <0.05). Such difference was also found in high-risk rate between 38-40 year old group and ≥ 41 year old group (<0.05), but not in true positive rate between two groups (>0.05).
NIPS is effective for fetal chromosomal aneuploidy screening in women of advanced maternal age. For women under 38 years of age, NIPS is preferred; for women of 41 and above, invasive diagnostic methods are suggested; and for women between 38-41 years old, the option can be determined by themselves after risks and advantages were fully informed.
评估游离胎儿DNA检测作为高龄孕产妇非侵入性产前筛查（NIPS）方法的有效性。
2015年2月至2016年9月期间，从浙江大学医学院附属妇产科医院和嘉兴市妇幼保健院招募了10584名接受NIPS的高龄孕产妇。对妊娠结局进行随访。分析NIPS检测中胎儿染色体非整倍体的敏感性、特异性、阳性预测值和阴性预测值。并分析孕产妇年龄与胎儿常见染色体非整倍体之间的关系。
NIPS对21三体的敏感性、特异性、阳性预测值和阴性预测值分别为100.00%、99.96%、91.67%、100.00%；对18三体分别为100.00%、99.93%、68.18%、100.00%；对13三体分别为100.00%、99.97%、25.00%、100.00%。21三体的高危率和真阳性率与孕产妇年龄呈正相关（均<0.01）。35 - 37岁组与38 - 40岁组之间的高危率和真阳性率存在显著差异（均<0.05）。38 - 40岁组与≥41岁组之间的高危率也存在差异（<0.05），但两组之间的真阳性率无差异（>0.05）。
NIPS对高龄孕产妇胎儿染色体非整倍体筛查有效。对于38岁以下的女性，首选NIPS；对于41岁及以上的女性，建议采用侵入性诊断方法；对于38 - 41岁的女性，在充分了解风险和益处后可自行决定筛查方式。
