My daughter has Rett syndrome. Now I am 8 weeks pregnant - should I do genetic tests, because I must admit that I am afraid of having Rett again, although I know that the probability of this disease again is very small. Thank you.
A PERSONAL INTERVIEW with a specialist clinical geneticist is necessary. I assume that your daughter underwent a molecular test of the MECP2 gene, which confirmed the clinical diagnosis of the syndrome. Only if the daughter's mutation has been identified will possible prenatal diagnosis be possible. To discuss possible indications for prenatal tests, you should URGENTLY contact a genetic clinic, preferably the one where your daughter's genetic test was performed. If a decision is made on a prenatal test, it will most likely be a trophoblast biopsy performed around week 12 of pregnancy.
Remember that our expert's answer is informative and will not replace a visit to the doctor.
Krystyna SpodarKrystyna Spodar - specialist in the field of clinical genetics at NZOZ Genomed, ul. Ponczowa 12, 02-971 Warsaw, www.nzoz.genomed.pl, e-mail: [email protected]
The expert answers questions about genetic diseases and congenital malformations, inheritance, and prenatal diagnosis.
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