RESUMO
Objective: To investigate the value of ultrasound and noninvasive prenatal DNA testing (NIPT) in diagnosis of fetal sex chromosome abnormalities. Methods: Chromosomal data of prenatal diagnosis of 8 792 high-risk pregnant women were retrospectively analyzed. The detection rate of fetal chromosomal abnormalities of ultrasound and NIPT was analyzed, and the pregnancy outcomes of fetuses with sexual chromosome abnormalities were observed. Results: There were 144 fetuses (144/8 792, 1.64%) with abnormal sex chromosomes, 5 (5/8 792, 0.06%) with abnormal chromosome structures and 139 with abnormal number of sex chromosomes (139/8 792, 1.58%), including 32 with 45, X (Turner syndrome), 22 with 45, X chimera, 44 with 47, XXY (Klinefelter syndrome), 3 with 47, XXY chimera, 23 with 47, XXX, 11 with 47, XYY, 3 with other abnormal of numbers and 1 with 45, X [15] /46, XX [40] male sexual reversal. Among 144 fetal chromosomal abnormalities, 73 (73/144, 50.69%) were detected with ultrasound. Totally 77 fetuses were screened by NIPT, and 75 (75/77, 97.40%) sexual chromosome abnormalities were detected. Among 32 fetuses with 45, X, 31 were found with structural abnormalities by ultrasound including 28 cystic hygromas, and 32 were then induced, while in 112 fetuses with other type of sex chromosome abnormalities, pregnancy was chosen to be continued in 42 (42/112, 37.50%) cases. Conclusion: NIPT is of great value in detection of sex chromosome abnormalities. 45, X should be highly suspected when cystic hygroma is found in prenatal ultrasound screening.