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The genetic counseling requires a thorough clinical approach given the extreme variability of phenotype and etiology. The karyotype is an essential diagnostic tool. Since mutations in the four major genes (<jats:italic>SHH<\/jats:italic>, <jats:italic>ZIC2<\/jats:italic>, <jats:italic>SIX3<\/jats:italic>, and <jats:italic>TGIF<\/jats:italic>) have been identified in HPE patients, molecular study is performed routinely in nonsyndromic HPE. New molecular tools, such as array\u2010CGH analysis, are now part of the diagnostic process. Prenatal diagnosis is based primarily on fetal imaging, but \u201cmolecular\u201d prenatal diagnosis can be performed if a mutation has been previously identified in a proband. Interpretations of molecular diagnosis must be given with caution, given the lack of strict genotype\u2013phenotype correlation, and should be offered in addition to fetal imaging, using ultrasound followed by fetal MRI. We report on our experience of 15 molecular prenatal diagnoses from chorionic villi or amniotic fluid sampling. In eight instances, we were able to reassure the parents after taking into account the absence of the mutation in the fetus, previously identified before in a parent and\/or a proband. Fetal RMI was normal later in pregnancy, and no child had medical problems after birth. The mutation was found in the seven other cases: four children were born, either without brain malformation and asymptomatic, or had a less severe form than the index case. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30246","type":"journal-article","created":{"date-parts":[[2010,1,26]],"date-time":"2010-01-26T22:19:08Z","timestamp":1264544348000},"page":"191-196","source":"Crossref","is-referenced-by-count":47,"title":["Genetic counseling and \u201cmolecular\u201d prenatal diagnosis of holoprosencephaly 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