This study was performed to examine the factors affecting attitudes regarding prenatal diagnosis and clinical treatment by analyzing the clinical data of women with positive noninvasive prenatal testing (NIPT) results.Methods: We collected clinical data for women with positive NIPT results. The women received prenatal genetic consultation. The women with true positive results received prenatal genetic counseling again, and decided whether to continue or terminate their pregnancy.Results: A total of 228 women received positive NIPT results. The prenatal diagnosis was accepted in 174 cases (76.3%), and 124 women were confirmed to have true positive NIPT results. The positive predictive values (PPV) of T21/T18/T13 and fetal sex chromosome aneuploidy were 88.4% and 42.9%, respectively. All (99/99, 100%) of the women with T21/T18/T13 terminated their pregnancies, while 25.0% (6/24) of women with fetal SCA continued their pregnancies. An NIPT result of Chr(9) microduplication was obtained in one woman, which was confirmed by chromosomal microarray analysis (CMA).Conclusions: NIPT exhibited good detection accuracy for T21/T18/T13, and also contributed to identifying fetal SCA and substructural chromosomal abnormalities. With a positive NIPT result, the attitudes of pregnant women regarding prenatal diagnosis and clinical treatment are related to the severity of disease, cognitive ability, and the level of prenatal genetic counseling.

Objective To describe our preliminary experience in the application of microwave ablation for selective fetal reduction in complicated monochorionic multiple pregnancies. Methods In this prospective study, 45 consecutive complicated monochorionic multiple pregnancies that underwent microwave ablation for selective fetal reduction from July 2015 to February 2017 were analyzed from the first case onward. All patients were managed at the Peking University Third Hospital in Beijing, China. Results There were 45 cases (twins in 40 and triplets in five) treated by microwave ablation. The median gestational age at surgery was 21.3 weeks (range, 15.9‐25.7 wk), with a mean total ablation time of 8.5 ± 4.2 (7.2‐9.7) minutes. There were 12 (26.7%) cases of postprocedural fetal loss. Thirty‐three women delivered alive at a median gestational age of 37.6 weeks (range, 28.6‐40.4 wk). There were no neonatal deaths in our cohort, and the overall survival rate was 73.3% (33/45). Preterm premature rupture of membranes occurred in 9 (20.0%) cases with a median of 7.0 weeks (range, 0.9‐16.3 wk) after the surgery. None of the surviving cotwins had evidence of thermal injury or neurological abnormalities. Conclusion Microwave ablation appears to be a safe and effective method for selective feticide in complicated monochorionic pregnancies.

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Analyses of cell-free fetal DNA (cff-DNA) from maternal plasma using massively parallel sequencing enable the noninvasive detection of feto-placental chromosome aneuploidy; this technique has been widely used in clinics worldwide. Noninvasive prenatal tests (NIPT) based on cff-DNA have achieved very high accuracy; however, they suffer from maternal copy-number variations (CNV) that may cause false positives and false negatives. In this study, we developed an algorithm to exclude the effect of maternal CNV and refined the Z-score that is used to determine fetal aneuploidy. The simulation results showed that the algorithm is robust against variations of fetal concentration and maternal CNV size. We also introduced a method based on the discrepancy between feto-placental concentrations to help reduce the false-positive ratio. A total of 6615 pregnant women were enrolled in a prospective study to validate the accuracy of our method. All 106 fetuses with T21, 20 with T18, and three with T13 were tested using our method, with sensitivity of 100% and specificity of 99.97%. In the results, two cases with maternal duplications in chromosome 21, which were falsely predicted as T21 by the previous NIPT method, were correctly classified as normal by our algorithm, which demonstrated the effectiveness of our approach.