Abstract：Objective: To explore the value of noninvasive prenatal DNA (NIPT) in the diagnosis of abnormal karyotype in elderly pregnant women. Methods: 1467 elderly pregnant women who were admitted to our hospital from January 2016 to January 2019 and voluntarily received NIPT test were selected as subjects. Peripheral blood samples of all subjects were collected and free DNA of fetuses was extracted. After PCR amplification, NIPT detection was used to calculate the risk of chromosomal diseases in children. Meanwhile, amniocentesis tests were performed on pregnant women with high-risk NIPT test results. The abnormal NIPT test results and the verification results of amniotic fluid karyotype in 1467 pregnant women were compared, and the coincidence rate of the abnormal NIPT test results and the verification results of amniotic fluid karyotype were analyzed. To compare the detection rate of abnormal karyotype in pregnant women of different ages. Results: There were 24 cases of 1467 elderly pregnant women with abnormal NIPT detection, among which 6 cases indicated high risk of trisomy 21, 4 cases indicated high risk of trisomy 18, 3 cases indicated high risk of trisomy 13, 7 cases indicated sex chromosome abnormalities, and 4 cases indicated other chromosome abnormalities. Amniocentesis test was performed in 24 pregnant women, and 13 cases of fetal chromosomal abnormalities were diagnosed, including 6 cases of trisomy 21, 3 cases of trisomy 18, 1 case of trisomy 13, 2 cases of sex chromosome abnormalities and 1 case of other chromosomal abnormalities. The remaining 11 pregnant women with normal nuclear type were confirmed by amniotic fluid. The coincidence rate of NIPT detection with the verification result of amniotic fluid karyotype was 54.17%, among which the coincidence rate of NIPT detection with the verification result of amniotic fluid karyotype was 100.00%, 75.00%, 33.33%, 28.57% and 25.00%, respectively. The detection rate of abnormal karyotype in elderly pregnant women aged ≥40 years was 1.82% (9/494), which was significantly higher than 0.41% (4/973) in elderly pregnant women aged 35-39 years (P<0.05).. Conclusion: The value of NIPT detection in elderly pregnant women is fair, and the detection rate of trisomy 21 and trisomy 18 is high. Which is worthy of clinical application. With the increase of the age of pregnant women, the higher the detection rate of abnormal nuclear type of NIPT, which should be paid attention to.
马志慧. 研究无创产前DNA诊断高龄孕妇异常核型的价值[J]. 河北医学, 2020, 26(10): 1733-1738.
MA Zhihui. To Investigate the Value of Noninvasive Prenatal DNA (NIPT) in Diagnosing Abnormal of Abnormal Karyotype in Elderly Pregnant Women. HeBei Med, 2020, 26(10): 1733-1738.
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2020, Vol. 26 
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