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What Are The Chances Of Getting Pregnant With MTHFR C677t Heterozygous Gene Mutation?

Posted on Fri, 17 Jan 2014

Question: hi dr i am trying to get pregnant , i have MTHFR c677t hetrozygout gene mutation , and he told me this mean my baby will have down syndrome and i shouldnt get pregnant normally , he adviced us to do icsi / Pre-implantation Genetic Diagnosis ? is that true ? i cant get pregnant normally ?

Answered by Dr. Dattaprasad (12 hours later)

Brief Answer: No need to worry. Detailed Answer: Hi, Welcome to XXXXXXX Whatever you have been told is not true. MTHFR gene mutation does not lead to Down's dyndrome in baby & you do not require ICSI for that. The only thing the mutation causes is increased abortion rate, which can be lowered by taking folic acid 5 mg daily before & during pregnancy. I hope you are already taking folic acid in the dose of 5 mg daily. Kindly continue taking aspirin as it also might help in reducing chance of abortion. You can try for natural conception if there is no other indication for active treatment. (I hope endometriosis you mentioned in medical history is not of severe catagory). Doctor might have advised ICSI for some other reason. Kindly confirm with your doctor the same. One thing is sure, MTHFR gene mutation is not an indication for ICSI. Let me know if you have other concerns. Awaiting reply. Regards.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dattaprasad (26 hours later)

thanks alot dr , i am taking folic acid 5 mg + baby aspirin + B complex i had endometriosis grade 1+2 which removed by laproscopy + decapeptyl my husband has poor morphology but he has been better ( was 1% normal morphology now 5% + good count 40 mil / ml + 60 % motility ) , i want to try natural conception for more 3 months then go for iui , but when dr told me that with MTHFR gene mutation we will got down syndrome baby and we should have icsi + pre implantation genetic diagnosis ( which more expensive than icsi alone ) that is why i ask to be sure

Answered by Dr. Dattaprasad (16 hours later)

Brief Answer: MTHFR mutation: not a cause of concern. Detailed Answer: Hi, Welcome back. I understand your concerns. Be sure that MTHFR heterozygous gene mutation will not cause down syndrome in baby. Whatever increased risk of down's syndrome baby is very low (still lower at your age), & should be further lowered by folic acid 5 mg + baby aspirin + B complex supplementation which you are already taking. It is not an indication for ICSI/PGD. Coming to your second query regarding mode of conception, there are three things which are obstacles in conception: First: Stage 1/2 endometriosis, that too treated with laparoscopy should not at all prevent conception. Second: PCOS is not a major problem if you are regularly ovulating either spontaneously OR with medicines. Third most important & most significant factor can be poor sperm morphology. You have mentioned two reports, with one showing 1% normal morphology & other 5%. Sperm morphology should not vary to that great extant (500% variation). Its more likely to be interpersonal variation of interpretation. Husband can repeat semen analysis once more from a good laboratory which follows WHO 2010 standards of semen examination. If morphology comes out to be more than 4% normal forms, you can safely try for natural conception even for 6 months. If its lower, still you can try for 3 months before going for advanced treatment. Hope this helps you. Let me know if you have other concerns. Wish you happy, healthy & prosperous new year. Regards.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Dattaprasad (2 hours later)

Thanks alot dr You make me happy I have been told that endometriosis will come back quickly and prevent comception ?

Answered by Dr. Dattaprasad (3 hours later)

Brief Answer: True Detailed Answer: Hi, Welcome back. Its true that endometriosis will come back & can prevent conception, but not quickly as you mentioned. More ever as its treated through laparoscopy, progression will be slowed. Whatever may be the interpretation, see to it that you get pregnancy within next 6 months. Wish you good health. If you do not have further concerns you can close the discussion & rate the answer. If you have any queries I will be happy to help. Regards.

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar