hi dr, I have 2 and half yrs baby.. by 8th month we came to know she has Jouberts syndrome... She has delayed milestones.. she started walking independently in 2 yrs by giving therapy.. now she speaks more than 30 words.. Her knowledge is good... Drs told there is 25% chance for her sibblings.. Is there any genetic testing for Jouberts? During pregnancy can we detect this.. if so by how many months? can u pls suggest a best scanning centre in chennai... Dr pls send me a valuable reply for this question..
Hello, There is possible genetic testing for Joubert syn Chat Doctor.  However, the diagnosis during pregnancy is achieved by ultrasound and MRI of the fetus in suspected cases. Gene testing requires a highly specialized genetic center, ultrasound and MRI are available in different centers including obstetrics-gynecology hospitals. Hope I have answered your query. Let me know if I can assist you further.