ABSTRACT
OBJECTIVE@#To analyze the results of noninvasive prenatal screening (NIPS) for fetal chromosome aneuploidy in twin pregnancy.@*METHODS@#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.@*RESULTS@#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.@*CONCLUSIONS@#NIPS can detect fetal chromosomal aneuploidy rapidly and accurately in twin pregnancies,and it is of value in clinical application.
Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Noninvasive Prenatal Testing , Reference Standards , Pregnancy, Twin , Prenatal Diagnosis , Methods , Reproducibility of Results , TrisomyABSTRACT
<p><b>OBJECTIVE</b>To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSIONS</b>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.</p>