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| Analysis of the prenatal ultrasound diagnostic characteristics and the genotypic analysis of fetus with central nervous system malformations |
| 1. Tongcheng People's Hospital of Xianning City, Hubei Province, 437000; 2.Union Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan |
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Abstract To study the characteristics of prenatal ultrasound diagnostic characteristics and the genotypic analysis of fetus with central nervous system (CNS) malformations diagnosis. Methods: 93 pregnant women diagnosed with abnormal fetal CNS development confirmed by the prenatal diagnosis center of the hospital from January 2019 to August 2022 were included in this study. The results of prenatal ultrasound examination of the fetus and the fetal karyotype analysis were collected, and the characteristics of the prenatal ultrasound and the chromosomal karyotype of the fetus with different gestational weeks and with different malformation types were analyzed. Results: Ultrasound examination for the fetus can be used to better screen the fetal CNS malformation, with the sensitivity of 90.3% and the specificity of 97.8% during the first trimester of pregnancy, and with the sensitivity of 96.8% and the specificity of 100.0% during the second trimester of pregnancy. However, the fetal neural tube defects were the mainly findings during the first trimester of pregnancy, and all the fetal CNS malformations could be found during the second trimester of pregnancy. The fetuses with CNS malformations might had abnormal chromosome karyotypes, mainly with trisomy 13 and 18. Conclusion: Prenatal examinations by two-dimensional, three-dimensional, transvaginal ultrasound, and chromosomal karyotype analysis for the fetuses have high clinical values in fetal CNS malformations screening, especially during the second trimester of pregnancy, and which can provide references for the clinical prenatal diagnosis and genetic counseling.
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