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Clinical features and pregnancy outcomes of women with abnormal cell-free fetal DNA test results.

Background
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.