Can holoprosencephaly be detected early by any genetic testing?

Yes: Holoprosencephaly involves abnormal forebrain structure and facial changes ranging from midline cleft lip to single eye (cyclops). Over 30 genes or chromosome regions can be altered to produce holopros, allowing chromosome/gene testing of affected children. Routine and certainly level II ultrasound should pick up holopros in the second trimester of pregnancy, allowing genetic testing by amnio.

Yes: It can be detected during the pregnancy, but by the mean of the obstetrical ultrasonography and depends on the skills of the technician performing the procedure. The other screening tests performed during pregnancy, may predict some of the chromosomal disorders, associated with holoprosencephaly, such as trisomy 13.