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What Does My Scan Result Suggest?

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Posted on Tue, 21 Oct 2014
Question: I went for my 12th week nuchal-translucency scan for my pregnancy, they found a lot problems with the embroyo and the general advise is not to continue the pregnancy. They have found Neural Tube defects..
- occipital enchephalocele
-Mild dilation of the right lateral ventricle
-Cleft palate
-Absent right humerus, radius and ulna
- few (2 or 3) soft digits are noted in the right shoulder

It is a very difficult time for us. My question is "should we repeat the scan one more time?" and why did this happen?
( no-one is my or my husband's family history have had such an issue) and what should we do to not let this happen in our future attempts towards pregnancy.

- I'm 32 and my husband is 37. I was on .4mg a day folic acid table for two months before the pregnancy and I was continuing the dosage thru the pregnancy.
- neither of us are diabetic
- I was given Progestrone 100mg shots every week and I was taking 200mg of susten(progestrone) tablets twice every day thru the pregnancy from the 7the week onwards.

doctor
Answered by Dr. Aarti Abraham (48 minutes later)
Brief Answer:
NO NEED TO REPEAT SCAN, REASONS DISCUSSED

Detailed Answer:
Hello
Thanks for trusting us with your health concern.
I empathize with your situation, and am sorry about the scan results.
To answer your questions -
In my opinion, the scan is pretty much conclusive, and all the findings are very clearly elucidated.
THere is no point in having a repeat scan done, unless you very much wish for a second opinion.
Regarding why it happened.
IT is a very complex situation.
Basically, the baby is having MCA - multiple congenital anomalies.
Some abnormalities occur in 4 % of the population, but multiple major anomalies like the ones found in this baby occur in around 1 % of the population, they are quite rare.
A few reasons are postulated.
The main thing to remember, is that , in more than 50 % of cases, there is no obvious cause - the medical term is idiopathic.
Recurrence rate is around 5 %, so dont be disheartened, you have more than 90 % chance of having a normal pregnancy again.
Now for the possible causes.
The most obvious cause is abnormality of chromosomes, during the meeting of the egg and sperm, chromosomal disturbances arise, leading to defects in organ systems.
This is a random event and can happen to anyone, it is just random.
There are certain factors that influence it, and I would discuss them, so that you can take due precautions next time.
The first is maternal age.
After 30, the risk of abnormalities increases, there is nothing you can do about your age.
The second is deficiency of folic acid, but you have taken adequate folic acid this time.
Next time around, you should take 5 mg per day daily (instead of 0.4 mg ) for 3 months prior to conception and continue the dosage throughout pregnancy.
Diabetes again is a leading cause, please get your OGTT done and HBA1C ( oral glucose tolerance test and glycosylated hemoglobin ).
Get your and husbands blood groups tested for any abnormality.
Get yourself vaccinated against Rubella infection before planning the next pregnancy.
Avoid any kind of drugs, smoking, alcohol and exposure to toxins, fumes, chemicals , radiation during pregnancy.
High grade fever is best prevented.
I can understand the turmoil you are going through right now, but please be reassured in the fact that most women with one anomalous baby go on to have normal babies the next time around.
Once you go for termination of this pregnancy, please ensure that your baby ( foetus ) is sent for chromosomal evaluation and a formal pathological evaluation to arrive at any syndrome that might be present.
This would prepare you for the next time.
Just a word - is this a consanguinous marriage ( are you and your husband related ) ? - That would increase chances of malformations.
HOpe the answer helped you to some extent.
All the best
Please feel free to discuss further
Above answer was peer-reviewed by : Dr. Yogesh D
doctor
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Follow up: Dr. Aarti Abraham (6 hours later)
Hello Doctor,

Thanks for your detailed response. To answer your question, Myself and my husband are not related, we belong to same sect etc. but there was no marriages between our families for the past 3 generations and we are from geographically different parts of the state.

We are in XXXXXXX and I'm slated to get admitted for abortion tomorrow (monday). How would I send the foetus for chromosomal evaluation and formal pathological evaluation? what should I tell the doctor about it.

Is there any centres in XXXXXXX that specializes on this evaluation?

Looking forward for your suggestion. thanks
doctor
Answered by Dr. Aarti Abraham (4 hours later)
Brief Answer:
YOUR DOCTOR WOULD KNOW

Detailed Answer:
Hi .
If there is no blood relation, there is nothing to worry.
You should request the doctor to send the fetus for autopsy and chromosomal evaluation.
There would be various centres specializing in Genetic and Fetal Medicine, that would be best equipped for such an evaluation.
I do not belong to XXXXXXX hence am unable to provide specific names, a reasonably good Specialist would know for sure.
Am sure your doctor would do the needful.
Just ensure it is done, actually the suggestion should have come from her .
Take care.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
Answered by
Dr.
Dr. Aarti Abraham

OBGYN

Practicing since :1998

Answered : 6004 Questions

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What Does My Scan Result Suggest?

Brief Answer: NO NEED TO REPEAT SCAN, REASONS DISCUSSED Detailed Answer: Hello Thanks for trusting us with your health concern. I empathize with your situation, and am sorry about the scan results. To answer your questions - In my opinion, the scan is pretty much conclusive, and all the findings are very clearly elucidated. THere is no point in having a repeat scan done, unless you very much wish for a second opinion. Regarding why it happened. IT is a very complex situation. Basically, the baby is having MCA - multiple congenital anomalies. Some abnormalities occur in 4 % of the population, but multiple major anomalies like the ones found in this baby occur in around 1 % of the population, they are quite rare. A few reasons are postulated. The main thing to remember, is that , in more than 50 % of cases, there is no obvious cause - the medical term is idiopathic. Recurrence rate is around 5 %, so dont be disheartened, you have more than 90 % chance of having a normal pregnancy again. Now for the possible causes. The most obvious cause is abnormality of chromosomes, during the meeting of the egg and sperm, chromosomal disturbances arise, leading to defects in organ systems. This is a random event and can happen to anyone, it is just random. There are certain factors that influence it, and I would discuss them, so that you can take due precautions next time. The first is maternal age. After 30, the risk of abnormalities increases, there is nothing you can do about your age. The second is deficiency of folic acid, but you have taken adequate folic acid this time. Next time around, you should take 5 mg per day daily (instead of 0.4 mg ) for 3 months prior to conception and continue the dosage throughout pregnancy. Diabetes again is a leading cause, please get your OGTT done and HBA1C ( oral glucose tolerance test and glycosylated hemoglobin ). Get your and husbands blood groups tested for any abnormality. Get yourself vaccinated against Rubella infection before planning the next pregnancy. Avoid any kind of drugs, smoking, alcohol and exposure to toxins, fumes, chemicals , radiation during pregnancy. High grade fever is best prevented. I can understand the turmoil you are going through right now, but please be reassured in the fact that most women with one anomalous baby go on to have normal babies the next time around. Once you go for termination of this pregnancy, please ensure that your baby ( foetus ) is sent for chromosomal evaluation and a formal pathological evaluation to arrive at any syndrome that might be present. This would prepare you for the next time. Just a word - is this a consanguinous marriage ( are you and your husband related ) ? - That would increase chances of malformations. HOpe the answer helped you to some extent. All the best Please feel free to discuss further