title: [Hereditary holoprosencephaly--late diagnosis in spite of recurrence].
abstract: Holoprosencephaly (HPE) is a serious malformation of the central nervous system which occurs between the 18th and 28th day of gestation. HPE can appear in different manifestations within one family. The diagnosis of HPE can be performed in an early sonographic scan between the 12th and the 14th week of gestation, according to the guidelines for the examination of the foetal nervous system. The history of a pregnant woman with a previous birth of a foetus with cerebral malformation and having a partner with minor signs for HPE justifies an intensified sonographic examination and molecular analysis. An amniocentesis was done just for the basic analysis, not for further genetic testing. However, it is very important to have information about a recurrency risk for every subsequent pregnancy.
authors.affiliation: Klinik für Frauenheilkunde und Geburtshilfe an der Johann Wolfgang Goethe- Universität Frankfurt am Main, Frankfurt, Germany. fani.geka@t-online.de
authors.forename: F
authors.initials: F
authors.lastname: Geka
authors.forename: A
authors.initials: A
authors.lastname: Reitter
authors.forename: F
authors.initials: F
authors.lastname: Louwen
mesh_terms: D000025:Abortion, Eugenic; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D057210:Delayed Diagnosis; D005260:Female; D005817:Genetic Counseling; D016142:Holoprosencephaly / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D012008:Recurrence; D016216:Ultrasonography, Prenatal; D055815:Young Adult