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| Detection of fetal chromosomal abnormalities by different prenatal diagnostic indicators and analysis of the results of follow-up |
| Deyang People’s Hospital, Deyang, Sichuan Province, 618000 |
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Abstract To analyze distribution of abnormal chromosome karyotype in amniotic fluid cells and detection of fetal chromosomal abnormalities based on different prenatal diagnostic indicators. Methods: The clinical data of 3245 pregnant women with prenatal diagnostic indicators after genetic consultation from January 2018 to June 2020 were collected retrospectively. Amniotic fluid of these women was extracted by amniocentesis for routine amniotic fluid cell karyotype analysis. Results: In 3245 samples, there was 1 case with failed in culture, and the success rate of culture was 99.97%. The success rate of karyotype analysis was 100%. 151 cases with abnormal karyotype were found with the abnormal rate of 4.7%. There were 58 cases (38.4%) with abnormal chromosome number, 93 cases (61.6%) with structural changes of chromosome (including 54 cases with structural abnormalities and 39 cases with chromosome polymorphism). There was significant difference in the detective rate of fetal abnormality among the pregnant women with different prenatal diagnostic indicators, such as the highrisk of down syndrome by different serological screening, the advanced pregnant women, the abnormal thickness of fetal neck transparent (NT), the multiple malformations by ultrasound screening, the adverse pregnancy history, the high-risk of fetal chromosomal abnormalities by noninvasive prenatal test (NIPT) of DNA screening, the abnormal chromosomal abnormalities of the one of the spouse, the pregnancy medication, or the contacting the factor leading to fetal chromosomal malformation (P＜0.05). The fetal chromosomal abnormality detection rate of the women with high-risk of chromosomal abnormality by NIPT was the highest (38.2%), followed by that (25.0%) of the women or her spouse with chromosomal abnormality, and then was that (13.8%) of the women with abnormality of their fetal NT. Conclusion：Among the pregnant women who underwent amniocentesis for prenatal diagnosis, the women with the high risk of abnormal chromosome by NIPT, the abnormal chromosome of husband or wife, or the abnormal fetal NT have the highest detection rate of fetal chromosomal abnormality. And the combination of different prenatal screening indicators can increase the detective effectiveness of the fetal abnormality.
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