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Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China.
Clin Chim Acta. 2020 Aug; 507:187-193.CC

Abstract

BACKGROUND

Skeletal dysplasias account for nearly 10% of fetal structural malformations detected by ultrasonography. This clinically heterogeneous group of genetic anomaly includes at least 461 genetic skeletal disorders with extreme clinical, phenotypic, and genetic heterogeneities, thus, significantly complicates accurate diagnosis. Researches have used whole exome sequencing (WES) for prenatal molecular diagnoses of skeletal dysplasias, however, data are still limited.

METHODS

DNA extracted from umbilical cord blood or amniocytes from fetuses suspected of skeletal dysplasias based on ultrasound evaluations were analyzed by WES. Blood samples were taken from the parents of the positive fetuses for co-segregation analysis using Sanger sequencing.

RESULT

Definitive molecular diagnosis was made in 6/8 (75%) cases, comprised of 5 de novo disease-causing changes in 3 genes (FGFR3, COL2A1, and COL1A2) and one proband with a biallelic deficiency for Lamin B Receptor(LBR),and including 3 novel variants. All fetuses had no detectable copy number variation (CNV) from sequencing results.

CONCLUSIONS

Our study suggests that WES is an efficient approach for prenatal diagnosis of fetuses suspected of skeletal abnormalities and contributes to parental genetics counseling and pregnancy management.

Authors+Show Affiliations

Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China; Department of Medical Imaging Center, The First Affiliated Hospital of Jinan University, Jinan University, Guangzhou, Guangdong 510080, China. Electronic address: jiatang@jnu.edu.cn.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China; Halo Genetics, Guangzhou, Guangdong 510000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China; Halo Genetics, Guangzhou, Guangdong 510000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Department of Biology, School of Basic Medicine, Jiamusi University, Jiamusi, Heilongjiang 154007, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Halo Genetics, Guangzhou, Guangdong 510000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Medical Genetics Center, Jiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong 529000, China.Department of Biology, School of Basic Medicine, Jiamusi University, Jiamusi, Heilongjiang 154007, China.Department of Medical Imaging Center, The First Affiliated Hospital of Jinan University, Jinan University, Guangzhou, Guangdong 510080, China. Electronic address: tluolp@jnu.edu.cn.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32360156

Citation

Tang, Jia, et al. "Prenatal Diagnosis of Skeletal Dysplasias Using Whole Exome Sequencing in China." Clinica Chimica Acta; International Journal of Clinical Chemistry, vol. 507, 2020, pp. 187-193.
Tang J, Zhou C, Shi H, et al. Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China. Clin Chim Acta. 2020;507:187-193.
Tang, J., Zhou, C., Shi, H., Mo, Y., Tan, W., Sun, T., Zhu, J., Li, Q., Li, H., Li, Y., Wang, S., Hong, Y., Li, N., Zeng, Q., Tan, J., Ma, W., & Luo, L. (2020). Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China. Clinica Chimica Acta; International Journal of Clinical Chemistry, 507, 187-193. https://doi.org/10.1016/j.cca.2020.04.031
Tang J, et al. Prenatal Diagnosis of Skeletal Dysplasias Using Whole Exome Sequencing in China. Clin Chim Acta. 2020;507:187-193. PubMed PMID: 32360156.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of skeletal dysplasias using whole exome sequencing in China. AU - Tang,Jia, AU - Zhou,Chenglong, AU - Shi,Haihong, AU - Mo,Yuying, AU - Tan,Weilan, AU - Sun,Tielan, AU - Zhu,Jinling, AU - Li,Qing, AU - Li,Hui, AU - Li,Yuping, AU - Wang,Songbai, AU - Hong,Yan, AU - Li,Ning, AU - Zeng,Qinlong, AU - Tan,Jieliang, AU - Ma,Wei, AU - Luo,Liangping, Y1 - 2020/04/28/ PY - 2020/01/15/received PY - 2020/04/04/revised PY - 2020/04/27/accepted PY - 2020/5/4/pubmed PY - 2021/1/14/medline PY - 2020/5/4/entrez KW - Genotype-phenotype analysis KW - Prenatal diagnosis KW - Skeletal dysplasias KW - Whole exome sequencing SP - 187 EP - 193 JF - Clinica chimica acta; international journal of clinical chemistry JO - Clin Chim Acta VL - 507 N2 - BACKGROUND: Skeletal dysplasias account for nearly 10% of fetal structural malformations detected by ultrasonography. This clinically heterogeneous group of genetic anomaly includes at least 461 genetic skeletal disorders with extreme clinical, phenotypic, and genetic heterogeneities, thus, significantly complicates accurate diagnosis. Researches have used whole exome sequencing (WES) for prenatal molecular diagnoses of skeletal dysplasias, however, data are still limited. METHODS: DNA extracted from umbilical cord blood or amniocytes from fetuses suspected of skeletal dysplasias based on ultrasound evaluations were analyzed by WES. Blood samples were taken from the parents of the positive fetuses for co-segregation analysis using Sanger sequencing. RESULT: Definitive molecular diagnosis was made in 6/8 (75%) cases, comprised of 5 de novo disease-causing changes in 3 genes (FGFR3, COL2A1, and COL1A2) and one proband with a biallelic deficiency for Lamin B Receptor(LBR),and including 3 novel variants. All fetuses had no detectable copy number variation (CNV) from sequencing results. CONCLUSIONS: Our study suggests that WES is an efficient approach for prenatal diagnosis of fetuses suspected of skeletal abnormalities and contributes to parental genetics counseling and pregnancy management. SN - 1873-3492 UR - https://www.unboundmedicine.com/medline/citation/32360156/Prenatal_diagnosis_of_skeletal_dysplasias_using_whole_exome_sequencing_in_China_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0009-8981(20)30186-8 DB - PRIME DP - Unbound Medicine ER -