Genetic training for obstetricians and gynaecologists

Authors

  • Tak Yeung LEUNG

DOI:

https://doi.org/10.12809/hkjgom.19.1.00

Abstract

Nil

References

Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:2175-84.

Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312:1870-9.

Chiu RW, Akolekar R, Zheng YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.

Vermeesch JR, Voet T, Devriendt K. Prenatal and preimplantation genetic diagnosis. Nat Rev Genet 2016;17:643-56.

Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ. Modeled fetal risk of genetic diseases identified by expanded carrier screening. JAMA 2016;316:734-42.

Wang H, Chau MHK, Cao Y, Kwok KY, Choy KW. Chromosome copy number variants in fetuses with syndromic malformations. Birth Defects Res 2017;109:725-33.

Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS. Promises, pitfalls and practicalities of prenatal whole exome sequencing. Prenat Diagn 2018;38:10-9.

Fu F, Li R, Li Y, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. Ultrasound Obstet Gynecol 2018;51:493-502.

Coughlin CR 2nd, Scharer GH, Shaikh TH. Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. Genome Med 2012;4:80.

Lazarin GA, Haque IS. Expanded carrier screening: a review of early implementation and literature. Semin Perinatol 2016;40:29-34.

Lau TK. Obstetricians should get ready for expanded carrier screening. BJOG 2016;123(Suppl 3):36-8.

Cheng YK, Lin CS, Kwok YK, et al. Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis. Hong Kong Med J 2017;23:110-6.

Choy KW. Evaluation of carrier frequencies and variants for Mendelian disorders in the Chinese population identified by expanded carrier screening with NGS. (unpublished data from the Chinese University of Hong Kong).

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Published

2019-01-01

How to Cite

1.
LEUNG TY. Genetic training for obstetricians and gynaecologists. Hong Kong J Gynaecol Obstet Midwifery [Internet]. 2019 Jan. 1 [cited 2024 May 8];19(1). Available from: https://hkjgom.org/home/article/view/253

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Section

Editorial