CDKL5 syndrome can be detected during pregnancy, but this test is not usually performed as a routine pregnancy test, and may be indicated for pregnant women with a family history of the mutation or who have had a child with the mutation in the past.
CDKL5 syndrome is a disorder caused by a mutation in the CDKL5 gene. Patients with CDKL5 syndrome have early-onset epilepsy, as well as neurological developmental delays that result in cognitive, motor, language, and visual impairments.
The incidence of CDKL5 syndrome in newborns is approximately 1:40,000 to 1:60,000, and the majority of affected children are female.
Theoretically, CDKL5 syndrome can be identified by genetic testing during pregnancy. However, at present, hospitals do not offer genetic testing as a routine part of the labor and delivery program, which is a costly endeavor. However, pregnant women with a family history of genetic disease or who have given birth to a child with a genetic mutation should undergo genetic testing. The genes of the fetus can be checked for mutations by second-generation sequencing.
There are more than 300 known chromosomal disorders, and most of the fetuses are accompanied by a variety of congenital defects such as growth retardation, mental retardation, malformations, and sexual developmental disorders. If necessary, the relevant tests can be perfected under the guidance of a doctor to avoid the birth of a defective fetus.