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Dr. Andrew Rynne

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Exp 50 years

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Madam Further to previous conversation. Now my wife is pregnant

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Dr. Rakhi Tayal

OBGYN

Practicing since :2001

Answered : 13609 Questions

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Posted on Thu, 20 Dec 2018 in General Health
Question: Madam
Further to previous conversation.
Now my wife is pregnant of 12 week 5 days.
Today first trimester scan is done & reports is attached.
The noteworthy point as told by doctor is
1) Single Umbilical artery.
2) Hypoplastic nasal bone.
He told that finding may be associated with chromosomal abonormalities or could be normal & requires further investigation.
Option of first trimester combined screening;NIPS; CVS/ aminocentesis ; TIFFA scan.Risk of downs syndrome.
He said there is two vein near head instead of three.
I am very worried.
Please advise further course of action/ 2nd advise.
doctor
Answered by Dr. Rakhi Tayal 34 minutes later
Brief Answer:
Combined screening is needed now.

Detailed Answer:
Hello,
Thanks for posting your query.
I have gone through your query and understand your health concerns.
I have seen all the attached reports. The hypoplastic nasal bone and single umbilical artery can be associated with Down's syndrome. This can be ruled out with a first trimester combined screening that will help us in excluding Down's syndrome and Trisomy 18. In case the risk of chromosomal disorder is high in this screening then termination of pregnancy can be considered. Otherwise this can be a normal variation also but we must go with further tests to rule out any anomaly. At a later stage further confirmation can be done with further tests at 18-20 weeks.
I hope this answers your query.
In case you have additional questions or doubts, you can forward them to me, and I shall be glad to help you out.
For future query, you can directly approach me through my profile URL http://bit.ly/Dr-Rakhi-Tayal
Wishing you good health.
Regards.
Dr. Rakhi Tayal

Above answer was peer-reviewed by : Dr. Yogesh D
doctor
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Follow up: Dr. Rakhi Tayal 30 minutes later
Madam
1) Today we have done double marker test ( reports awaited) & first trimester not scan ultrasound ( reports attached).Both when seen together can we predict down syndrome.
2) Doctor also suggested CNS / NIPS test after positive result of double marker test.
3) based on this termination of foetal may be decided.
Please suggest sequence of test & interpretation of test.
With present reports can I say my foetal is suffering from down syndrome.
I am in right direction or should change doctor/ 2nd opinion.
doctor
Answered by Dr. Rakhi Tayal 8 hours later
Brief Answer:
Details below.

Detailed Answer:
Hello.
Thanks for writing again.
Double marker test and NT scan together can predict the chances of having a baby suffering with Down's syndrome.
NIPS is 99% accurate test in detecting Down's syndrome and is a safe test as the mother's blood is tested for baby's DNA. It will help in further confirmation of the diagnosis.
The present report does not confirm the Down's syndrome. It only shows a higher chance of having a malformed baby.
Your doctor has advised you correctly. These tests are necessary to confirm the diagnosis.
Hope my answer is helpful.
Do accept my answer in case there are no further queries.
Regards.

Above answer was peer-reviewed by : Dr. Yogesh D
doctor
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Follow up: Dr. Rakhi Tayal 4 hours later
Sample is givin for double marker test & first trimester screening is done.
Would it can give confirmation of down syndrome.or more test is required.
At 12 weeks 9 days if we want termination of issue would it be dangerous for mother .What is procedure of termination ; d& c or operations.
Secondly can I do repeat NT screening; whether there is chance of error in screening.we have to take decision as early so that termination of issue is not dangerous for mother
Please advise or 2nd opinion is required.
doctor
Answered by Dr. Rakhi Tayal 8 hours later
Brief Answer:
Double marker test only gives the probability.

Detailed Answer:
Double marker test only gives a probability of having a child with Down's syndrome. The confirmatory test is NIPS.

At 12- 14 weeks, D&C is done for termination of pregnancy. The operation is usually not needed. The risk to mother is the same as with all the procedures like - infection, bleeding, etc.

Repeat NT screening will not help much. To be very sure it is best to go for NIPS test.

It is best to take the decision with the help of your doctor as soon as possible.
Regards.


Above answer was peer-reviewed by : Dr. Arnab Banerjee
doctor
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Follow up: Dr. Rakhi Tayal 41 minutes later
Can NIPS test may be done in 12 weeks or some more time is tequired for NIPS test.
Another option is CVS but there is 1 percentage chance of miscarriage.
So NIPS vs CVS which one is better.
As per suggestions I should take a call for NIPS test as soon as possible & based on result termination / carry forward may be connsidered.Does NIPS test give accurate result ; is there any documents that the foetal having positive nips test found to be down syndrome after birth in XXXXXXX ?
In my first issue no such test was done and my son is healthy.
Then what is the requirements of such test in 2nd issue.
Is there any new advance in technology.
TiFFA test is also recommended by doctor.
doctor
Answered by Dr. Rakhi Tayal 38 minutes later
Brief Answer:
NIPS is more accurate.

Detailed Answer:
NIPS can be done anytime after 10 weeks. In CVS, the chances of miscarriage are present. NIPS is a better choice out of these two.

NIPS test gives 99% accurate result.
Anyone who gets a positive NIPS test goes for a termination. No one wants to experiment with a baby's life. So there is no such literature available.

The tests are needed as the findings of the ultrasound scan are not normal. It is being done only to avoid having a malformed or chromosomally abnormal baby. Such chances are higher in pregnancies in which the mother's age is more than 30.

TiFFA test also gives only the probability but is less accurate than NIPS.

Regards.
Above answer was peer-reviewed by : Dr. Arnab Banerjee
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