|
Abstract To analyze the value of noninvasive prenatal gene screening combined with ultrasound soft indexes for diagnosing fetal chromosome abnormalities. Methods: 9,200 pregnant women during the second trimester of pregnancy between January 2017 and August 2019 were selected as study subjects. All of these women had received ultrasound examination, and the women with positive ultrasound soft index were received noninvasive DNA detection. And the women with highrisk of noninvasive DNA detection were further given amniocentesis and fetal karyotype analysis. All these women were followed up till delivery or the termination of pregnancy. Results: A total of 1,040 pregnant women with positive ultrasound soft indexes of the fetuses were detected, with a positive rate of 11.3%. Among them, 52 high-risk fetuses were found by noninvasive DNA detection with the detection rate of 0.56%, which included 47 cases with trisomy 21 syndrome, 1 case with trisomy 18 syndrome, 1 case with trisomy 13 syndrome, and 3 cases with sex chromosome abnormality. All 52 women had received amniocentesis and fetal karyotype analysis, and there were 36 women with abnormal fetuses were diagnosed. The coincidence rate of noninvasive DNA detection for diagnosing abnormal fetuses was 69.2%. The fetal chromosomal abnormality rate of the women with single positive ultrasound soft index was significantly lower than that of the women with multiple positive ultrasound soft indexes. The enhanced intestinal echo, NT/NF thickening, ventricular dilation, nasal bone opacity in the ultrasound soft indexes of the women were the most closely related to their fetal chromosomal abnormality, which OR value were 5.692, 2.826, 2.179, 2.284, and 2.337, respectively. A total of 1040 low-risk pregnant women with positive ultrasound soft indexes were followed up, which included 57 women with miscarriages (36 cases due to chromosomal abnormalities and 21 cases due to other reasons), and the other 983 women had successful deliveries without abnormal clinical manifestation. Conclusion: Noninvasive prenatal gene screening combined with ultrasound soft indexes can effectively find the fetuses with chromosome abnormalities, which can improve the accuracy of screening.
|
