We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but mild mental retardation. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses.
Semilobar holoprosencephaly in 2 successive pregnancies
 
  Keywords
 
 
  
   Holoprosencephaly
  
 
 
  
   Craniofacial malformation
  
 
 
  
   Prenatal diagnosis
  
 
Abstract
 Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon.
Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18.
A familial form has occasionally been described.
There are three types of HPE: alobar, semilobar and lobar.
We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies.
Both parents had normal karyotypes, but <dis>mild mental retardation</dis>.
Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively.
Histopathological analysis confirmed HPE in both fetuses.
Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE.
The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities.
Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery.
The cerebral sickle showed little development.
Abstract
 Holoprosencephaly (HPE) is characterized by a spectrum of central nervous system anomalies arising from a failure in the differentiation and division of the prosencephalon.
Approximately 50% of the causes are chromosomal, the most frequent being trisomies 13 and 18.
A familial form has occasionally been described.
There are three types of HPE: alobar, semilobar and lobar.
We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies.
Both parents had normal karyotypes, but mild mental retardation.
Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively.
Histopathological analysis confirmed HPE in both fetuses.
Given these findings, cerebral magnetic resonance imaging was performed in both parents to exclude familial HPE.
The mother showed slight asymmetry in ventricular size and fornix with no other abnormalities.
Study of the father confirmed our suspicions and showed partial agenesis of the corpus callosum in the medial and posterior portions, as well as a defect in the morphology of the lateral ventricles and a single pericallosal artery.
The cerebral sickle showed little development.
We present the case of a 33-year-old woman who showed identical ultrasonographic findings compatible with semilobar HPE in the second trimester of two successive pregnancies. Both parents had normal karyotypes, but <dis>mild mental retardation</dis>. Both pregnancies were finalized by dilation and extraction abortion in weeks 21 and 20, respectively. Histopathological analysis confirmed HPE in both fetuses.
mild mental retardation
DISABILITY