Images for 4 patients are presented below. Patients A, B, and C are alobar variants of holoprosencephaly with Patient B and Patient C due to Trisomy 13 at different gestational ages. Patient D represents semi-lobar holoprosencephaly at 27 6/7 weeks.
Above. Patient A. Cerebellar view 34 1/7 weeks gestation. Note elongated thalamus.
Above. Patient A. Fetal head circumference is at 7th percentile. Elongated thalamus. No cavum septi pellucidi (CSP) seen.
Above. Patient A. Holoprosencephaly Profile.
Above. Patient A. Note monoventricle, fused thalamus; no infant interhemispheric fissure or falx. Diagnosis: holoprosencephaly, alobar variant.
Above. Patient B. 19 6/7 weeks gestation. Abnormal profile, likely monoventricle and fused thalamus, possible congenital heart defect.
Above. Patient B. Infant with abnormal lower extremities.
Above. Patient B. Abnormal hand with postaxial polydactyly.
Above. Patient B. Monoventricle, fused thalamus, with multiple fetal markers for aneuploidy. Diagnosis: Trisomy 13 with alobar holoprosencephaly.
Above. Patient C. 17 5/7 weeks gestation. Brachycephaly, elongated thalamus, no CSP.
Above. Patient C. Elongation of thalamus, monoventricle, and absence of CSP.
Above. Patient C. Sagittal view. Note monoventricle.
Above. Patient C. “Classic view,” alobar holoprosencephaly with monoventricle, and fused thalamus. Karyotype: Trisomy 13.
Above. Patient D. 27 6/7 weeks gestation. Anterior monoventricle, no SCP.
Above. Patient D. Monoventricle present but with partial cleavage and rudimentary falx. Diagnosis: Semi-lobar Holoprosencephaly.