Prenatal diagnosis of diencephalic-mesencephalic junction dysplasia: Fetal magnetic resonance imaging phenotypes, genetic diagnoses, and outcomes.
Anne K LawrenceMatthew T WhiteheadPaul KruszkaLaura SanapoSho YanoPranoot TanpaiboonMaximilian MuenkeJamie L FraserAdre J du PlessisPublished in: Prenatal diagnosis (2021)
DMJD may be identified by prenatal MRI as early as 18 weeks gestation. We propose three distinct phenotypic forms of DMJD, Types A-C. Next-generation sequencing provides an underlying molecular diagnosis in some patients, but further studies on associated genetic diagnoses and clinical outcomes are indicated.
Keyphrases
- magnetic resonance imaging
- end stage renal disease
- copy number
- contrast enhanced
- ejection fraction
- newly diagnosed
- genome wide
- chronic kidney disease
- pregnant women
- peritoneal dialysis
- preterm infants
- gestational age
- gene expression
- type diabetes
- magnetic resonance
- skeletal muscle
- single molecule
- dna methylation
- insulin resistance
- patient reported