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| Cytogenetic analysis of fetal chromosome distribution of 4224 elderly pregnant women |
| Hebei Provincial People’s Hospital, Shijiazhuang, Hebei Province, 050051 |
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Abstract To investigate the occurrence of fetal chromosomal abnormalities of elderly women (≥ 35 years old when expected date of confinement), and to provide evidence for selecting more appropriate technique of prenatal screening or prenatal diagnosis for elderly pregnant women. Methods: A retrospective analysis was conducted on the data of 4224 unifetal pregnant women who had experienced prenatal diagnosis due to elderly age from 2008 to 2018. And they were divided into different groups according to the preganant women age, whether with abnormal ultrasound soft markers (USM), whether with abnormal serum screening index during the second trimester of pregnancy, and whether with abnormal noninvasive prenatal testing (NIPT) high-risk. The distribution of fetal chromosomes was compared among these groups, and the significance of clinical screening was analyzed. Results: Among the 4224 elderly pregnant women, there were 321 cases (7.6%) fetuses with chromosome abnormality, which ingcluded 274 cases (6.5%) had chromosome aneuploidy, and it accounted for 85.36% of the women with abnormal karyotypes. There were 180 cases (4.26%) with trisomy 21 in 321 fetuses with chromosome abnormality, which accounted for 56.1% fetuses with abnormal karyotypes. And there were 91 cases (2.15%) with hromosome polymorphism. There were significant different in the incidences of fetal chromosomal abnormalities, chromosomal aneuploidy, and trisomy 21 among different ederly pregnant women (P＜0.05), but which had no significant different among pregnant women with ≥ 41 years old. When the abnormal USM number of fetus increased, the incidences of fetal chromosomal abnormalities, aneuploid, or trisomy 21 of ederly pregnant women had increased (P＜0.05). The incidence of chromosomal abnormalities or chromosomal aneuploidy of fetus with abnormal USM and single umbilical artery was the highest, and that of fetus with abnormal USM and lateral ventricle broadening was the second highest. The incidence of trisomy 21 of fetus with lateral ventricle broadening was the highest, and which of fetus with incrassation of NF was the second highest. The incidence of chromosomal abnormalities of fetus with high risk of trisomy 21 by NIPT was the highest. Conclusion: The pregnancy outcomes of ederly pregnant women without other complication are good. If the age of pregnant women before delivery is less than 40 years old, and has antenatal diagnostic contraindications or has precious fetus, STSS and NIPT combined with USM screening guided by doctor should be performed. Ederly pregnant women with uniumbilical artery, lateral ventricle broadening, or NF thickening, especially with abnormal USM, high risk of STSS or NIPT, or ≥41 years old, it is recommended to sign informed consent before invasive prenatal diagnosis.
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