HealthCareMagic is now Ask A Doctor - 24x7 | https://www.askadoctor24x7.com

question-icon

How To Rule Out Down Syndrome In The Fetus During Pregnancy?

default
Posted on Thu, 29 May 2014
Question: hello...

i am 33 and having polycystic ovaries and got pregnant with gonal f and iui.
now i am 16 weeks pregnant today.
I did get nuchal can ultrasound and it is perfect at 12 and 13 weeks.
after that i got genetic scan at 15 weeks and that is also perfectly ok.
i did not get dauble markers blood test done to rule out down syndrome , trisomy 13 and trisomy 18
My question is :
1) are these scans enough to rule out the down syndrome?
2) can i get any other test now at 16 weeks to rule out these problems ?



doctor
Answered by Dr. Aarti Abraham (22 minutes later)
Brief Answer:
GET QUAD MARKER DONE.

Detailed Answer:
Hello XXXXXXX
Thanks for writing to us with your health concern.
Congratulations on your IUI success !
Now, a double marker ideally should have been done, considering your age .
However, now that it is missed, you have the following options -
1. Go for a quadruple test which is ideally done at 16 weeks, it has better predictive value than the double marker.
2. Just scans are not enough, genetic testing also should be done , hence please go for the Quadruple Marker test.
3. If there is history of prior abnormal babies or abnormal adults in either families, even amniocentesis can be considered.
4. Get OGTT ( Oral Glucose Tolerance Test ), TSH, Complete blood count, HBA2 ( thalassemia screening ) , Viral markers done.
Take daily 5 mg per day folic acid supplements.
All the best
Please feel free to discuss further.
Above answer was peer-reviewed by : Dr. Yogesh D
doctor
default
Follow up: Dr. Aarti Abraham (3 hours later)
Thanks dr XXXXXXX

Actually due to iui I had a fraternal twin pregnancy but unfortunately one of the twins heartbeat stopped around 10 weeks and the twin can still be seen in the scan.
Now is qaudruple test viable in my pregnancy ?
Would my levels be high because of twin pregnancy ?
doctor
Answered by Dr. Aarti Abraham (5 hours later)
Brief Answer:
CAN DO THE QUAD TEST.

Detailed Answer:
Hello
Sorry about the other twin.
Since the other twin expired around 6 weeks back, it would not contribute to any error in the reading of the Quadruple test.
You can go for it, and it would be accurate.
Am attaching this link , please go through it, hope it helps
http://mydoctor.kaiserpermanente.org/ncal/Images/GEN_PN_Testing_for_BirthDefects_Twins_10-11_tcm63-473180.pdf
Take care.
Above answer was peer-reviewed by : Dr. Shanthi.E
doctor
default
Follow up: Dr. Aarti Abraham (4 hours later)
I shall go for the quad test tomorrow .

But I somehow got my hcg test at 10 weeks and my hcg was 196500
Is it related to dauble marker ?
doctor
Answered by Dr. Aarti Abraham (0 minute later)
Brief Answer:
AS BELOW

Detailed Answer:
The high B HCG is due to the twin pregnancy.
Above answer was peer-reviewed by : Dr. Prasad
doctor
default
Follow up: Dr. Aarti Abraham (5 minutes later)
Ok

Is there any test called NIPT test ?
Is it better than quad test as far as results are concerned?
doctor
Answered by Dr. Aarti Abraham (6 minutes later)
Brief Answer:
yes, there is

Detailed Answer:
Yes, it uses maternal blood sample.
It is non invasive as compared to CVS / Amniocentesis.
Its results are more reliable than the Quad test, however it is far more expensive.
Find information below
http://www.apollopathlabs.com/Non-Invasive_Prenatal_Testing_(NIPT).htmlA
Above answer was peer-reviewed by : Dr. Shanthi.E
doctor
default
Follow up: Dr. Aarti Abraham (4 hours later)
hi doctor
i am planning to get quad test tomorrow at 16 weeks
but i read
:http://mydoctor.kaiserpermanente.org/ncal/Images/GEN_PN_Testing_for_BirthDefects_Twins_10-11_tcm63-473180.pdf

it say that quad test cannot rule out trisomy 18

also can it rule out trisomy 13
doctor
Answered by Dr. Aarti Abraham (4 hours later)
Brief Answer:
AS BELOW

Detailed Answer:
No, it only checks for Down's syndrome, neural tube defects and abdominal wall defects.
However, since one of your twins is no more, it would be accurate for Trisomy 18 also.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
default
Follow up: Dr. Aarti Abraham (6 days later)
Hello

I m 17 weeks today and haven't gained any weight.
Before getting pregnant I was 52 kg and lost almost 4 kgs approximately in the first trimester and have gained about 1 kg in the last 2 weeks.
My weight just does not increase.
Is it normal not to gain weight at 17 weeks?
My scan at 15 weeks was ok
doctor
Answered by Dr. Aarti Abraham (3 hours later)
Brief Answer:
AS BELOW

Detailed Answer:
Hello
It is normal for most women to lose weight in the first trimester, and then , slowly and gradually gain weight from the second trimester onwards.
SO do not worry.
You will definitely gain weight as the pregnancy advances.
As long as the baby growth is fine, there is nothing to worry about.
WEight gain during pregnancy is highly individualized, I am sure that in the coming weeks, you will have more weight gain.
Take lots of protein in your diet.
You can take a protein powder like Mothers Horlicks 2 tablespoons with milk twice a day.
Take care.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
default
Follow up: Dr. Aarti Abraham (5 hours later)
What exactly should I take for protien besides horlicks ?

Is chicken , fish and eggs good?
Or should I take veg protien ?
doctor
Answered by Dr. Aarti Abraham (12 minutes later)
Brief Answer:
AS BELOW

Detailed Answer:
If you are non vegetarian, best sources of protein are - egg, fish, chicken.
Vegetarian sources are - paneer, tofu, dal, beans, chana, milk
You can mix and match for variety as you prefer.
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
doctor
Answered by
Dr.
Dr. Aarti Abraham

OBGYN

Practicing since :1998

Answered : 6004 Questions

premium_optimized

The User accepted the expert's answer

Share on

Get personalised answers from verified doctor in minutes across 80+ specialties

159 Doctors Online

By proceeding, I accept the Terms and Conditions

HCM Blog Instant Access to Doctors
HCM Blog Questions Answered
HCM Blog Satisfaction
How To Rule Out Down Syndrome In The Fetus During Pregnancy?

Brief Answer: GET QUAD MARKER DONE. Detailed Answer: Hello XXXXXXX Thanks for writing to us with your health concern. Congratulations on your IUI success ! Now, a double marker ideally should have been done, considering your age . However, now that it is missed, you have the following options - 1. Go for a quadruple test which is ideally done at 16 weeks, it has better predictive value than the double marker. 2. Just scans are not enough, genetic testing also should be done , hence please go for the Quadruple Marker test. 3. If there is history of prior abnormal babies or abnormal adults in either families, even amniocentesis can be considered. 4. Get OGTT ( Oral Glucose Tolerance Test ), TSH, Complete blood count, HBA2 ( thalassemia screening ) , Viral markers done. Take daily 5 mg per day folic acid supplements. All the best Please feel free to discuss further.