RESUMO
BACKGROUND: Both noninvasive prenatal testing (NIPT) and prenatal ultrasound are widely used in clinical settings due to their safety, noninvasiveness, and accuracy, showing high detection rates for fetal chromosomal aneuploidies and structural abnormalities. However, whether the combined application of these two techniques has higher clinical applicability remains to be demonstrated. METHODS: The clinical and laboratory data of 3,050 pregnant women who underwent NIPT were collected. The clinical feasibility and health economics of NIPT were investigated by analyzing the accuracy, postnatal follow-up results, and population applicability of NIPT. In addition, an analysis ultrasonography, NIPT, and karyotyping results were performed to evaluate the combined application of ultrasonography and NIPT in screening fetal chromosomal abnormalities. RESULTS: NIPT could accurately detect trisomies 21, 18, and 13, and was highly sensitive and specific in detecting other autosomal and sex chromosomal aneuploidies. The positive rates of chromosomal abnormalities in the presence of 1 or 2 or more ultrasound markers were 7.5% and 29.2%, respectively, indicating that ultrasonography combined with NIPT should be preferred for the detection of fetal chromosomal abnormalities. CONCLUSIONS: Health economic analysis revealed NIPT to be superior to conventional serologic screening in terms of accuracy and socioeconomics. Ultrasound and NIPT are complementary to each other and the combined techniques can improve the screening ability of fetal chromosomal abnormalities and provide clinicians with more diagnostic information.
