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Dr. Andrew Rynne

Family Physician

Exp 50 years

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Madam Further to previous conversation. Now my wife is pregnant

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Dr. Richa Agarwal

OBGYN

Practicing since :1999

Answered : 3297 Questions

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Posted on Thu, 20 Dec 2018 in Pregnancy
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.
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Follow up: Dr. Richa Agarwal 0 minute later
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. Richa Agarwal 1 hour later
Brief Answer:
You have to go for further investigations.

Detailed Answer:
Hello dear,
Thanks for trusting us about your healthcare.
I have gone through your history and reports and understand your concern.
As with your report there is a risk of down syndrome and other chromosomal abnormalities in your case.
So you must go for CVS,amniocentesis, triple marker test and second level ultrasound for foetal well being.
Hope found useful, feel free to ask more information.
Good luck
Regards
Above answer was peer-reviewed by : Dr. Yogesh D
doctor
doctor
Answered by Dr. Richa Agarwal 0 minute later
Brief Answer:
You have to go for further investigations.

Detailed Answer:
Hello dear,
Thanks for trusting us about your healthcare.
I have gone through your history and reports and understand your concern.
As with your report there is a risk of down syndrome and other chromosomal abnormalities in your case.
So you must go for CVS,amniocentesis, triple marker test and second level ultrasound for foetal well being.
Hope found useful, feel free to ask more information.
Good luck
Regards
Above answer was peer-reviewed by : Dr. Yogesh D
doctor
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Follow up: Dr. Richa Agarwal 1 hour later
1) I want to know what is down syndrome and other chromosomal abnormalities ?
2) Cause of down syndrome & chrosomal abnormalities & remedy.
3) Whether with the test prescribed by doctor would be able to identify the syndrome.
4) whether I should continue with the same doctor or go for 2nd opinion.
5) If there is syndrome ; only pregnancy termination is remedy or some treatment is available.
6) the deficiency syndrome may cause abnormalities to fetal.
Please advise
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Follow up: Dr. Richa Agarwal 0 minute later
1) I want to know what is down syndrome and other chromosomal abnormalities ?
2) Cause of down syndrome & chrosomal abnormalities & remedy.
3) Whether with the test prescribed by doctor would be able to identify the syndrome.
4) whether I should continue with the same doctor or go for 2nd opinion.
5) If there is syndrome ; only pregnancy termination is remedy or some treatment is available.
6) the deficiency syndrome may cause abnormalities to fetal.
Please advise
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Follow up: Dr. Richa Agarwal 13 hours later
Waiting for reply
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Follow up: Dr. Richa Agarwal 0 minute later
Waiting for reply
doctor
Answered by Dr. Richa Agarwal 20 hours later
Brief Answer:
Explained below.

Detailed Answer:
Hello dear,
Sorry for the delay in my response.

Here are the answers to your questions.

Down syndrome and chromosomal abnormalities are generally a genetic condition in which due to genetic defect foetal get affected.

Down syndrome children are usually dwarf, mentally retarded and physically challenged.
Yes through these test we can predict it.
Termination of pregnancy is the only treatment or if you deliver a baby needs support from all medical sides.

Hope you found this useful

Good luck
Regards

Above answer was peer-reviewed by : Dr. Arnab Banerjee
doctor
doctor
Answered by Dr. Richa Agarwal 0 minute later
Brief Answer:
Explained below.

Detailed Answer:
Hello dear,
Sorry for the delay in my response.

Here are the answers to your questions.

Down syndrome and chromosomal abnormalities are generally a genetic condition in which due to genetic defect foetal get affected.

Down syndrome children are usually dwarf, mentally retarded and physically challenged.
Yes through these test we can predict it.
Termination of pregnancy is the only treatment or if you deliver a baby needs support from all medical sides.

Hope you found this useful

Good luck
Regards

Above answer was peer-reviewed by : Dr. Arnab Banerjee
doctor
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Follow up: Dr. Richa Agarwal 1 hour later
1) NIPS test
2) CVS/aminocentesis
I think I should repeat first trimester screening reports again in another multispeciality hospital ( 2nd opinion) & side by side confirmatory test also be considered.
Please suggest.
At present wife is 12 week 9 day pregnancy.How long I go for D& C ; so that safer for mother.
My first child is 7 years old & healthy then how 2nd baby is supposed to be suffering down syndromes.
My wife age is 33 yrs.
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Follow up: Dr. Richa Agarwal 0 minute later
1) NIPS test
2) CVS/aminocentesis
I think I should repeat first trimester screening reports again in another multispeciality hospital ( 2nd opinion) & side by side confirmatory test also be considered.
Please suggest.
At present wife is 12 week 9 day pregnancy.How long I go for D& C ; so that safer for mother.
My first child is 7 years old & healthy then how 2nd baby is supposed to be suffering down syndromes.
My wife age is 33 yrs.
doctor
Answered by Dr. Richa Agarwal 22 hours later
Brief Answer:
You should go for confirmatory test.

Detailed Answer:
Hello dear,
Sorry for the delay in my response.
In my point of view, you must get her confirmatory test in a multispeciality hospital, there is no need to go for previous test again because only these test shows probability of down syndrome not confirm it.
Abortion can only be done when confirmation of down syndrome is established .
Hope found useful
Good luck
Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
doctor
Answered by Dr. Richa Agarwal 0 minute later
Brief Answer:
You should go for confirmatory test.

Detailed Answer:
Hello dear,
Sorry for the delay in my response.
In my point of view, you must get her confirmatory test in a multispeciality hospital, there is no need to go for previous test again because only these test shows probability of down syndrome not confirm it.
Abortion can only be done when confirmation of down syndrome is established .
Hope found useful
Good luck
Regards
Above answer was peer-reviewed by : Dr. Raju A.T
doctor
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Follow up: Dr. Richa Agarwal 2 hours later
madam
In ultrasound following point raised during first trimester NT scan
1) Single Umbilical artery ;- means one artery & one vein otherwise there are two artery & one vein normally.but it is rarely problem associated with congenital abnormalities & chromosomal defect in fetus.In NT scan general growth is fine.Double marker test result awaited,depending on probability i may proceed for NIPT.
2)Hypo plastic nasal bone. :- Means growth of nasal bone is not up to mark however i feel sonographer may not able to see the all view or scenario will be more clear in second trimester scan
i think i should not be panic as discussed with my family doctor.
please suggest & explain what is hypoplastic nasal bone means.
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Follow up: Dr. Richa Agarwal 0 minute later
madam
In ultrasound following point raised during first trimester NT scan
1) Single Umbilical artery ;- means one artery & one vein otherwise there are two artery & one vein normally.but it is rarely problem associated with congenital abnormalities & chromosomal defect in fetus.In NT scan general growth is fine.Double marker test result awaited,depending on probability i may proceed for NIPT.
2)Hypo plastic nasal bone. :- Means growth of nasal bone is not up to mark however i feel sonographer may not able to see the all view or scenario will be more clear in second trimester scan
i think i should not be panic as discussed with my family doctor.
please suggest & explain what is hypoplastic nasal bone means.
doctor
Answered by Dr. Richa Agarwal 14 hours later
Brief Answer:
Hypoplastic or small nasal bone.

Detailed Answer:
Hello dear,
I have gone through your observations in detail and understand your concern fully.
Hypoplastic nasal bone means absent or small nasal bone and it is highly indicative of chances of down syndrome in foetus.
So you must go for amniocentesis in foetus.
Hope found useful
Good luck
Regards
Above answer was peer-reviewed by : Dr. Prasad
doctor
doctor
Answered by Dr. Richa Agarwal 0 minute later
Brief Answer:
Hypoplastic or small nasal bone.

Detailed Answer:
Hello dear,
I have gone through your observations in detail and understand your concern fully.
Hypoplastic nasal bone means absent or small nasal bone and it is highly indicative of chances of down syndrome in foetus.
So you must go for amniocentesis in foetus.
Hope found useful
Good luck
Regards
Above answer was peer-reviewed by : Dr. Prasad
doctor
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