Prenatal diagnosis of holoprosencephaly.
Youssef A KousaAdré J du PlessisGilbert VezinaPublished in: American journal of medical genetics. Part C, Seminars in medical genetics (2018)
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.
Keyphrases
- magnetic resonance imaging
- contrast enhanced
- high resolution
- pregnant women
- diffusion weighted imaging
- magnetic resonance
- white matter
- primary care
- cerebral ischemia
- preterm infants
- electronic health record
- genome wide
- dna methylation
- brain injury
- gene expression
- preterm birth
- big data
- smoking cessation
- artificial intelligence
- pregnancy outcomes
- men who have sex with men
- hiv testing