<human>: 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..
<bot>: 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. 