Every ophthalmologist should be aware of the possibilities for preventing hereditary eye diseases. In the past it was possible only to communicate the risk of recurrence for a particular disorder. Now, with the advent of prenatal genetic diagnosis, it is possible to diagnose in utero virtually all chromosomal abnormalities, more than 60 inborn errors of metabolism, and various congenital malformations.1,2 Moreover, prenatal sex determination has facilitated the management of hundreds of sex-linked genetic diseases.
Between 14 and 16 weeks of gestation, 10 to 20 ml of amniotic fluid is obtained by transabdominal amniocentesis from the mother at risk. Cells floating free in the amniotic fluid and which derive from the fetus are grown in tissue culture. Chromosomal analysis, enzymatic assay, or sex determination are performed on these cells, with results being available usually between two and four weeks after aspiration of the amniotic fluid. If the prenatal diagnosis of
Hereditary Eye Disease and Prenatal Diagnosis. Arch Ophthalmol. 1974;91(3):169. doi:10.1001/archopht.1974.03900060177001