Gamut of genetic testing for neonatal care

Arunkanth Ankala; Madhuri R Hegde

doi:10.1016/j.clp.2015.02.001

Gamut of genetic testing for neonatal care

Clin Perinatol. 2015 Jun;42(2):217-26, vii. doi: 10.1016/j.clp.2015.02.001. Epub 2015 Mar 31.

Authors

Arunkanth Ankala¹, Madhuri R Hegde²

Affiliations

¹ Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.
² Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA. Electronic address: mhegde@emory.edu.

PMID: 26042901
DOI: 10.1016/j.clp.2015.02.001

Abstract

The field of clinical genetics has advanced at an unprecedented pace. Today, with the aid of several high-resolution and high-precision technologies, physicians are able to make molecular genetic diagnoses for many infants affected with genetic disease. It is imperative, however, that perinatologists and neonatologists understand the strengths and limitations of genetic testing. This article discusses the different genetic testing options available for perinatal and neonatal diagnostics, along with their clinical utilities and indications. From variant-specific testing to whole-exome and genome sequencing, the article covers the whole gamut of genetic testing, with some thoughts on the changing paradigm of medical genetics.

Keywords: Clinical genetics; Exome sequencing; Genetic testing; Neonatal diagnostics; Perinatal diagnostics.

Publication types

Review

MeSH terms

Congenital Abnormalities / diagnosis*
Congenital Abnormalities / genetics*
Genetic Testing*
Humans
Infant, Newborn
Molecular Biology / methods*