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[Application of whole exome sequencing technology in fetuses with congenital structural abnormalities].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10; 38(9):900-906.ZY

Abstract

OBJECTIVE

To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities.

METHODS

The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups.

RESULTS

A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history.

CONCLUSION

For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.

Authors+Show Affiliations

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510623 China. canliao@hotmail.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

34487541

Citation

Li, Lushan, et al. "[Application of Whole Exome Sequencing Technology in Fetuses With Congenital Structural Abnormalities]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 38, no. 9, 2021, pp. 900-906.
Li L, Fu F, Li R, et al. [Application of whole exome sequencing technology in fetuses with congenital structural abnormalities]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021;38(9):900-906.
Li, L., Fu, F., Li, R., Yu, Q., Wang, D., Lei, T., Deng, Q., Zhang, W., Du, K., Yang, X., Han, J., Zhen, L., Pan, M., Zhang, L., Li, F., Zhang, Y., Jing, X., Li, D., & Liao, C. (2021). [Application of whole exome sequencing technology in fetuses with congenital structural abnormalities]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 38(9), 900-906. https://doi.org/10.3760/cma.j.cn511374-20200923-00685
Li L, et al. [Application of Whole Exome Sequencing Technology in Fetuses With Congenital Structural Abnormalities]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):900-906. PubMed PMID: 34487541.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Application of whole exome sequencing technology in fetuses with congenital structural abnormalities]. AU - Li,Lushan, AU - Fu,Fang, AU - Li,Ru, AU - Yu,Qiuxia, AU - Wang,Dan, AU - Lei,Tingying, AU - Deng,Qiong, AU - Zhang,Wenwen, AU - Du,Kun, AU - Yang,Xin, AU - Han,Jin, AU - Zhen,Li, AU - Pan,Min, AU - Zhang,Li'na, AU - Li,Fucheng, AU - Zhang,Yongling, AU - Jing,Xiangyi, AU - Li,Dongzhi, AU - Liao,Can, PY - 2021/9/6/entrez PY - 2021/9/7/pubmed PY - 2021/9/9/medline SP - 900 EP - 906 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 38 IS - 9 N2 - OBJECTIVE: To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities. METHODS: The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups. RESULTS: A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history. CONCLUSION: For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/34487541/[Application_of_whole_exome_sequencing_technology_in_fetuses_with_congenital_structural_abnormalities]_ L2 - https://medlineplus.gov/fetalhealthanddevelopment.html DB - PRIME DP - Unbound Medicine ER -