Table of Contents
Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Holoprosencephaly | Semilobar HPE | 12A0 Case 12 History
The patient is a 3-day-old girl with antenatal imaging demonstrating semi-lobar holoprosencephaly. She was born 34w2d gestational age and developed respiratory distress shortly after birth and was intubated. She also required pressors for hypotension. She was transitioned to comfort case and passed away at 3 days of life. ---- A dichorionic diamniotic twin gestation was diagnosed at about 5 weeks of gestation. She has had regular ultrasound follow-up but imaging has been limited by maternal habitus and fetal positions. A fetal ECHO was performed but was also limited in its ability to image adequately. A multigenerational family pedigree for her and her husband was assembled. There was no history of congenital anomalies, genetic diseases or recurrent pregnancy losses. The mother underwent a comprehensive ultrasound and ultrafast fetal MRI. The ultrasound confirmed the presence of a dichorionic diamniotic twin gestation. The patient’s head biometry measures well under the 10th percentile. The intracranial imaging shows a single U-shaped monoventricle anteriorly with a fused thalamus. The posterior fossa structures appear normal. The fetal face is abnormal with a midline cleft of the upper lip, an abnormal nose and hypotelorism. Maternal amniocentesis chromosomal microarray show normal dosage female with region of homozygosity from 13q14 to 13q 21.32. Comprehensive holoprosencephaly panel (GeneDX,) is negative.
