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| Prenatal three-dimensional ultrasound and chromosomal microarray analysis for screening abnormal fetus with bone malformation and the genetic etiology analysis of these abnormal fetus |
| Hebi People's Hospital, Hebi, Henan Province, 458030 |
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Abstract To study the prenatal three-dimensional ultrasound and chromosomal microarray analysis (CMA)for screening abnormal fetus with bone malformation, and to analyze the genetic etiology of these abnormal fetus. Methods: 20 fetuses with confirmed bone malformation by prenatal diagnosis from May 2019 to January 2022 were included as research objects. According to the guidelines of the American Society of genetic medicine, 20 fetuses with confirmed bone malformation included 5 cases with pathogenic copy number variations (CNV)in group A, 10 cases with benign CNVs in group B, and 5 cases with unknown causes (Vous)of bone malformation in group C. The ultrasonic abnormalities of the fetuses were compared among the three groups. The correlation between the results of ultrasonic examination of the fetuses in group A and their CMA was analyzed. Results: There were no significant differences in the maternal age and height, the gestational weeks of delivery, and the mode of conception among the three groups (P＞0.05). There were significant differences in rates of the increased heart-chest ratio and the decreased thighbone-chest circumference ratio of the fetuses among the three groups (P＜0.05). There were no significant differences in the rates of bone loss and facial deformity of the fetuses among the three groups (P＞0.05). There were 3 fetuses with chromosome deletion and 2 fetuses with chromosome duplication in group A. Logistics multifactor analysis showed that the increased heart-chest ratio and the decreased thighbone-chest circumference of the fetuses by ultrasound were the independent risk factors of pathogenic CNVs and unknown causes of bone malformation of the fetuses. Conclusion: Prenatal three-dimensional ultrasound screening for the diagnosing abnormal fetuses with bone malformations has a strong correlation with the results of CNVs of these fetuses. The genetic abnormalities of the fetuses with bone malformations are abnormalities in 1, 6, 15, and X chromosome mainly.
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