30 June 1997
There has been a patient seen through my center that has had three fetuses diagnosed with hydrocephaly by prenatal ultrasound evaluation. The twin of one of these fetues was diagnosed with microcephaly by ultrasound. An autopsy subsequently performed did not identify microcephaly, however, revealed extensive gliosis in the brain and damage of underlying structures. This was thought to have resulted from in utero hypoxia. Chromosome analysis and infection studies were negative for all fetuses (1/3 of fetuses with hydrocephaly was female by chromosomes). The patient and husband are said to be first cousins and of Arabic descent. The husband's niece along with a distant relative are suspected to have hydrocephaly. DNA has been stored on the fetus with the brain abnormalities and one male fetus with hydrocephaly.
Please contact me if you are aware of anyone who would be interested in studying or offering DNA testing to this family.