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Can Mutational Analysis Test And Prenatal Diagnosis Detect Tay–Sachs Disease?
Dear sir,
I am sekhar from Andhra Pradesh. Myself and my wife both are the carriers of taysachs. We have lost two kids previously. Our carrier stage is conformed by blood test conducted at Delhi-Gangatram hospital. What we have to do now to get a healthy child. Is Mutational analysis test and prenatal diagnosis gives fruiful result. In the case of second kid we have undergone through CVS test and but the report given is wrong and the baby died at the age of 3 year. Please guide us in this state of ambuigity.
Sekhar
I am sekhar from Andhra Pradesh. Myself and my wife both are the carriers of taysachs. We have lost two kids previously. Our carrier stage is conformed by blood test conducted at Delhi-Gangatram hospital. What we have to do now to get a healthy child. Is Mutational analysis test and prenatal diagnosis gives fruiful result. In the case of second kid we have undergone through CVS test and but the report given is wrong and the baby died at the age of 3 year. Please guide us in this state of ambuigity.
Sekhar
Tue, 17 Feb 2015
Thank you for posting your query. I can understand your concern. Tay–Sachs disease is a severe progressive neurologic disease that causes death in early childhood. You have definitely gone one step forward by getting to know that both you and your wife are carriers of Tay- Sachs disease. A piece of information , I want to share with you.
Test results of biochemical carrier screening using serum are inaccurate when performed in women who are pregnant or taking oral contraceptives. If the serum test is used for pregnant women, many of them will be misclassified as carriers. If biochemical testing is to be done in women who are pregnant or taking oral contraceptives, leukocyte testing must be used.
You must have gone through the correct procedure , but I felt I should let you know about this.
Tay–Sachs disease can definitely be diagnosed prenatally by measuring hexosaminidase activity in samples obtained by amniocentesis or by chorionic villus sampling. Consult a gynaecologist in a good hospital and you will definitely be successful the next time. Feel free to ask any query. Wish you all the best
Test results of biochemical carrier screening using serum are inaccurate when performed in women who are pregnant or taking oral contraceptives. If the serum test is used for pregnant women, many of them will be misclassified as carriers. If biochemical testing is to be done in women who are pregnant or taking oral contraceptives, leukocyte testing must be used.
You must have gone through the correct procedure , but I felt I should let you know about this.
Tay–Sachs disease can definitely be diagnosed prenatally by measuring hexosaminidase activity in samples obtained by amniocentesis or by chorionic villus sampling. Consult a gynaecologist in a good hospital and you will definitely be successful the next time. Feel free to ask any query. Wish you all the best
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