Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Andrey A MarakhonovIrina A MishinaVitaly V KadyshevSvetlana A RepinaMaria F ShuryginaOlga A ShchaginaNatalya N VassermanTatyana A VasilyevaSergey I KutsevRena A Zinchenko

Published in: BMC medical genetics (2020)

Clinical polymorphism of hereditary ophthalmic pathology can severely complicate establishment of an exact diagnosis and make it time- and cost-consuming. NGS appears to be the method-of-choice in complicated cases, and this could substantially hasten the establishment of a diagnosis and genetic risk estimation.

Keyphrases

preterm birth
density functional theory
pregnant women
pregnancy outcomes
decision making
dna methylation
breast cancer risk