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| Ultrasound diagnosis and genetics analysis of fetuses with congenital skeletal malformation |
| 1. Tongcheng People's Hospital, Hubei Province, 437000; 2. Union Hospital affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province |
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Abstract To analyze the diagnostic rate of fetuses with congenital skeletal malformation by ultrasound, and to study the genetics of these fetuses. Methods: The clinical data of 92 pregnant women with fetal congenital skeletal malformations diagnosed in hospital from June 2020 to June 2022 were included as the study subjects retrospectively. The ultrasonic diagnosis results combined with the subsequent diagnosis and treatment data were used to classification analysis. The chromosomal microarray analysis (CMA) was performed on these pregnant women with confirmed congenital skeletal malformation of fetuses. According to the CMA results, these women were divided into three types, including pathogenic (pCNVs), benign CNVs and clinically unknown CNVs (Vous). And the genetic analysis of these women was carried out. Results: The total accuracy of the prenatal ultrasound diagnosis for the congenital skeletal malformation of the fetuses was 95.7% (88/92), which had no statistically significant different from that of the final diagnosis and treatment results of the newborns (P＞0.05). 92 pregnant women had the varying degrees CNVs, and the average number of CNVs was 3.28±1.15 and the average CNVs fragment size was 3.78±1.47 Mb, which including 19 women with pCNVs, 59 women with benign CNVs and 14 women with Vous. There were no significant difference in the basic data among the women with pCNVs, the women with benign CNVs and the women with Vous (P＞0.05). The incidences of the increased heart/chest ratio and the decreased of the femoral length/ abdominal circumference ratio (63.2% and 84.2%) of the women with pCNVs and those (71.4% and 57.1%) of the women with Vous were significantly higher than those (22.0% and 25.4%) of the women with benign CNVs (all P＜0.05). Logistic regression analysis suggests that the increased heart/chest ratio and the decreased of the femoral length/ abdominal circumference ratio of the women were the independent influencing factors of the occurrence of their pCNVs. Conclusion: The prenatal ultrasound used for dignosing the fetal congenital skeletal malformation has the characteristics of high accuracy, safety and effectiveness, and which has significant conformance with the CMA diagnosis.
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