The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

Affiliations

¹ GeneDx, Gaithersburg, MD, USA.
² Integrated Genetics, Laboratory Corporation of America, Westborough, MA, USA.
³ Department of Obstetrics and Gynecology, Ochsner Health System, New Orleans, LA, USA.
⁴ Department of Obstetrics and Gynecology, Wayne State University, Detroit, MI, USA.
⁵ Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT, USA.

Free article

Kristin G Monaghan et al. Genet Med. 2020 Apr.

Free article

. 2020 Apr;22(4):675-680.

doi: 10.1038/s41436-019-0731-7. Epub 2020 Jan 8.

¹ GeneDx, Gaithersburg, MD, USA.
² Integrated Genetics, Laboratory Corporation of America, Westborough, MA, USA.
³ Department of Obstetrics and Gynecology, Ochsner Health System, New Orleans, LA, USA.
⁴ Department of Obstetrics and Gynecology, Wayne State University, Detroit, MI, USA.
⁵ Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT, USA.

No abstract available

Keywords: exome; fetal anomalies; prenatal diagnosis.

Comment in

Prenatal evaluation of fetuses with structural anomalies- is it time to shift from microarray to genome sequencing?
Pan M, Li DZ. Pan M, et al. Taiwan J Obstet Gynecol. 2021 Mar;60(2):389. doi: 10.1016/j.tjog.2021.01.028. Taiwan J Obstet Gynecol. 2021. PMID: 33678356 No abstract available.

1. Howe D. Ethics of prenatal ultrasound. Best Pract Res Clin Obstet Gynaecol. 2014;28:443–451. - DOI
1. Nicolaides KH, Snijders RJM, Gosden CM, Berry C, Campbell S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet. 1992;340:704–707. - DOI
1. Zhang S, Lei C, Wu J, et al. A retrospective study of cytogenetic results from amniotic fluid in 5328 fetuses with abnormal obstetric sonographic findings. J Ultrasound Med. 2017;36:1809–1817. - DOI
1. Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175–2184. - DOI
1. Hillman SC, McMullan DJ, Hall G, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41:610–620. - DOI