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What Causes Jouberts Syndrome?
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..
Fri, 29 Mar 2019
Hello,
There is possible genetic testing for Joubert syndrome, it includes a 36 genes panel.
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.
Regards,
Dr. Erion Spaho, Neurologist, Surgical
There is possible genetic testing for Joubert syndrome, it includes a 36 genes panel.
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.
Regards,
Dr. Erion Spaho, Neurologist, Surgical
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