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Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
Prenat Diagn. 2020 04; 40(5):577-584.PD

Abstract

OBJECTIVE

The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.

METHOD

Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel.

RESULTS

Definitive molecular diagnosis was made in 24/27 (88.9%) cases. Chromosomal abnormality (partial trisomy 18) was detected in one case. Sequencing results had explained the prenatal phenotype enabling definitive diagnoses to be made in 23 cases. There were 16 de novo dominant pathogenic variants, four dominant pathogenic variants inherited maternally or paternally, two recessive conditions with pathogenic variants inherited from unaffected parents, and one X-linked condition. The turnaround time from receipt of samples in the laboratory to reporting sequencing results was within 2 weeks.

CONCLUSION

Medical trio ES can yield very timely and high diagnostic rates in fetuses presenting with suspected skeletal dysplasia. These definite diagnoses aided parental counseling and decision making in most of cases.

Authors+Show Affiliations

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.Department of Ultrasound, The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.Prenatal Diagnosis Center, Dongguan Women and Children Healthcare Hospital, Dongguan, China.AmCare Genomics Laboratory, Guangzhou, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.AmCare Genomics Laboratory, Guangzhou, China. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31994750

Citation

Han, Jin, et al. "Rapid Prenatal Diagnosis of Skeletal Dysplasia Using Medical Trio Exome Sequencing: Benefit for Prenatal Counseling and Pregnancy Management." Prenatal Diagnosis, vol. 40, no. 5, 2020, pp. 577-584.
Han J, Yang YD, He Y, et al. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management. Prenat Diagn. 2020;40(5):577-584.
Han, J., Yang, Y. D., He, Y., Liu, W. J., Zhen, L., Pan, M., Yang, X., Zhang, V. W., Liao, C., & Li, D. Z. (2020). Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management. Prenatal Diagnosis, 40(5), 577-584. https://doi.org/10.1002/pd.5653
Han J, et al. Rapid Prenatal Diagnosis of Skeletal Dysplasia Using Medical Trio Exome Sequencing: Benefit for Prenatal Counseling and Pregnancy Management. Prenat Diagn. 2020;40(5):577-584. PubMed PMID: 31994750.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management. AU - Han,Jin, AU - Yang,Yan-Dong, AU - He,Yi, AU - Liu,Wen-Jie, AU - Zhen,Li, AU - Pan,Min, AU - Yang,Xin, AU - Zhang,Victor Wei, AU - Liao,Can, AU - Li,Dong-Zhi, Y1 - 2020/02/10/ PY - 2019/09/21/received PY - 2020/01/02/revised PY - 2020/01/06/accepted PY - 2020/1/30/pubmed PY - 2021/6/12/medline PY - 2020/1/30/entrez SP - 577 EP - 584 JF - Prenatal diagnosis JO - Prenat Diagn VL - 40 IS - 5 N2 - OBJECTIVE: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. METHOD: Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel. RESULTS: Definitive molecular diagnosis was made in 24/27 (88.9%) cases. Chromosomal abnormality (partial trisomy 18) was detected in one case. Sequencing results had explained the prenatal phenotype enabling definitive diagnoses to be made in 23 cases. There were 16 de novo dominant pathogenic variants, four dominant pathogenic variants inherited maternally or paternally, two recessive conditions with pathogenic variants inherited from unaffected parents, and one X-linked condition. The turnaround time from receipt of samples in the laboratory to reporting sequencing results was within 2 weeks. CONCLUSION: Medical trio ES can yield very timely and high diagnostic rates in fetuses presenting with suspected skeletal dysplasia. These definite diagnoses aided parental counseling and decision making in most of cases. SN - 1097-0223 UR - https://www.unboundmedicine.com/medline/citation/31994750/Rapid_prenatal_diagnosis_of_skeletal_dysplasia_using_medical_trio_exome_sequencing:_Benefit_for_prenatal_counseling_and_pregnancy_management_ L2 - https://doi.org/10.1002/pd.5653 DB - PRIME DP - Unbound Medicine ER -