Prenatal diagnosis of holoprosencephaly

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Youssef A KousaGilbert Vezina

Abstract

Holoprosencephaly is a spectrum of congenital defects of forebrain development characterized by incomplete separation of the cerebral hemispheres. In vivo diagnosis can be established with prenatal brain imaging and disease severity correlates with extent of abnormally developed brain tissue. Advances in magnetic resonance imaging (MRI) over the past 25 years and their application to the fetus have enabled diagnosis of holoprosencephaly in utero. Here, we report on the prenatal diagnosis of holoprosencephaly using MRI as part of a diagnostic and management evaluation at a tertiary and quaternary referral center. Using an advanced MRI protocol and a 1.5-Tesla magnet, we show radiographic data diagnostic for the holoprosencephaly spectrum, including alobar, semilobar, lobar, middle interhemispheric, and septopreoptic variant. Accurate prenatal evaluation is important because the severity of imaging findings correlates with postnatal morbidity and mortality in holoprosencephaly. Therefore, this work has implications for the evaluation, diagnosis, management, and genetic counseling that families can receive during a pregnancy.

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Citations

May 30, 2019·American Journal of Medical Genetics. Part a·Maximilian Muenke
Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul KruszkaMaximilian Muenke
Jan 24, 2020·Veterinary Medicine and Science·Mosiany L KisipanRodi O Ojoo
Nov 11, 2020·American Journal of Obstetrics and Gynecology·UNKNOWN Society for Maternal-Fetal Medicine (SMFM), Ana Monteagudo

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