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A new interesting article has been published in Arch Dis Child Fetal Neonatal Ed. 2019 Jul;104(4):F452-F456. doi: 10.1136/archdischild-2018-316352. Epub 2019 Feb 1. Review and titled:

Exome sequencing in the assessment of congenital malformations in the fetus and neonate.

Authors of this article are:

Mone F, Quinlan-Jones E, Ewer AK, Kilby MD.

A summary of the article is shown below:

Major congenital anomalies are often associated with perinatal mortality, long-term morbidity and prolonged hospitalisation. Prenatal ultrasound remains the principle diagnostic test for many anomalies, but despite this up to one-third are only identified in the neonatal period. The primary step in determining underlying aetiology is to define accurately the phenotype by recognition of dysmorphology (both prenatally and postnatally). The potential introduction of next-generation sequencing, primarily through exome sequencing, into perinatal practice may improve the pathological diagnostic yield. However, clinicians must understand both the benefit and potential harms of this technology in facilitating the discovery of relevant pathogenic variants in the diagnosis and management of congenital malformations.© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/30816854 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: Congenital Abnormalities;Female;Humans;Infant, Newborn;Pregnancy;Prenatal Diagnosis;Sequence Analysis, DNA;Whole Exome Sequencing.

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