Hi doctor,
My wife is 27 years old and 13 weeks pregnant now. As per suggestion from doctor, we went for a double marker test. It is found that trisomy 21 + NT risk is 1:86 and doctor suggested for amniocentesis procedure. Now I am confused and do not know what to do. My wife scared that the procedure is risky and painful. Please explain us about it.
Hi,
Welcome to icliniq.com.
- From the information you have given, the risk of having a baby with chromosomal problem that is trisomy 21 or Down's syndrome is 1:86.
- I believe you would have received detailed counseling about this condition prior to and after going through the screening test.
- Down's syndrome babies are very cheerful generally but are differently abled and have varying degrees of reduced IQ (intelligence quotient) or mental retardation.
- Down's syndrome babies could also have heart or kidney defects and a shortened life span.
- What this screening test means is that if 86 women have such a result one of them will have a Down's baby whereas 85 out of 86 will have a normal baby.
- Amniocentesis is a test done to confirm the chromosomes of the baby and has a risk of 1 in 100 procedures resulting in miscarriage. The fluid around the baby is taken using a needle with local anesthesia and ultrasound guidance and sent for testing.
- On balance the chance of a Down's baby is more the the risk of miscarriage by amniocentesis.
- Usually the quick results are available in 72 hours and the final report takes three weeks.
- The options after getting the reports can be different for different couples. If the chromosomes are normal then we all are happy.
- If Down's syndrome is confirmed then some couples prepare themselves for the birth and care of the baby. Whereas some choose to end the pregnancy. This is why the decision to go through amniocentesis should be taken fairly quickly so that all options are available for us.
For further information consult an obstetrician and gynaecologist online --> https://www.icliniq.com/ask-a-doctor-online/obstetrician-and-gynaecologist
Hi doctor,
Thanks a lot for your detailed information. We have received the amniocentesis and karyotyping result. I kindly request you to have a say on that. I was told that test result is normal.
Hi,
Welcome back to icliniq.com.
- The report is normal (attachment removed to protect patient identity).
- You can relax now and reassure yourselves.
- Encourage your wife to enjoy the pregnancy. All the best.
For further information consult an obstetrician and gynaecologist online --> https://www.icliniq.com/ask-a-doctor-online/obstetrician-and-gynaecologist
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