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| Genetic causes and outcomes of fetus with renal abnormalities during the second and third trimester of pregnancy |
| 1.Taizhou Hospital, Zhejiang Province, 317000; 2. Taizhou Women's and Children's Hospital of Zhejiang Province |
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Abstract To investigate the genetic causes and pregnancy outcomes of fetus with renal abnormalities during the second and third trimester of pregnancy. Methods: Amniocentesis was performed on 121 pregnant women with fetal renal abnormalities by ultrasound. The amniotic fluid cells were tested by cytogenetic karyotype analysis and copy number variations (CNVs). Results: 33.1% fetuses had chromosomal abnormalities or gene abnormalities, which included 2 fetuses had duplication of more than 35Mb, 1 fetus had trisomeric chimerism of chromosome 8, and 10 fetuses had 1Mb5Mb gene microdeletion. 17q12 microdeletion, 7q31.33 microdeletion, and Xp22.31 microduplication were more likely to occur in the fetuses with renal abnormalities (8/40). The pregnancy termination rate of the fetuses with chromosomal abnormalities or gene abnormalities was significantly higher than that of the fetuses with normal chromosome. Conclusion: Genetic analysis should be performed in the fetuses with kidney abnormalities diagnosed by prenatal ultrasound, so as to the precise medical treatment and protective strategies of eugenics are implemented in these fetuses.
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