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Is Prenatal Testing For Down’s Syndrome Advisable During 13th Week Of Pregnancy?

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Posted on Tue, 27 Jun 2017
Question: Dear Maam

I contacted you 2 weeks back regarding my wife' brown discharge in 10th week of pregnancy to which you had given us a very comforting and detailed answer. The Brown Discharge also stopped after 2 days. We did the follow up Ultrasound yesterday and we were happy to see the fully formed baby with hands and legs happily moving inside the womb. His hands and legs was moving continuously and he had a strong heartbeat. Doctor also measured the pelvis and uterus and told us that everything was OK by Gods Grace.

Now the next phase is Down Syndromes Testing which our OBGYN plans to do in the end of 13th week. Its some kind of genetic test which will measure the chromosomes from Babys DNA from Mothers Blood. We are thinking whether we should get the Down Syndrome Testing done ? Kindly suggest and advice.
doctor
Answered by Dr. Deepti Verma (37 minutes later)
Brief Answer:
Down syndrome screening recommended

Detailed Answer:
Hi dear,
I have gone through your question and understand the concerns.
I am happy for both of you and all the best for the future also.
The screening for Downs syndrome or trisomy 21 should be done between 11 weeks to 13 weeks 6 days of pregnancy.
The screening is done using nuchal transluscency measurement of the fetus by the ultrasound and double marker levels from the mother's blood. This combined screening is 95% sensitive in detecting the risk for Down syndrome.
If the risk is high in the test, then amniocentesis ( fetal cell in amniotic fluid karyotyping) or Non invasive prenatal testing (NIPT) is done which is extraction of fetal DNA from the mother's blood and assessing the chromosomes in it.
However, since NIPT is more sensitive in detecting Down syndrome, about 99.9%, some obstetricians prefer doing it as a first step in screening, bypassing the Double marker and NT.
I will advise you to go for Down syndrome risk assessment, as it is recommended, by either ways whichever is suitable for you.
Hope you found the answer helpful.
Regards
Dr Deepti Verma
OBGYN
Maternal and fetal medicine specialist
Above answer was peer-reviewed by : Dr. Remy Koshy
doctor
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Follow up: Dr. Deepti Verma (14 minutes later)
Thanks Maam for your response. Our OBGYN is recommending NIPT directly. Is NIPT to be done before 14th week as well or it can be done anytime. We are planning to go to do the NIPT test on 17th XXXXXXX

Thanks very much

She mentioned she wants to do NIPT as its 99.9 percent accurate and in non invasive and can be done from Mothers Blood.

Thanks Very Much Doc1
doctor
Answered by Dr. Deepti Verma (20 minutes later)
Brief Answer:
between 13-14 weeks

Detailed Answer:
Hi dear,
I am happy to be of help to you.

NIPT should ideally be done between 13-14 weeks after a preliminary anomaly scan of the fetus.
This scan rules out any major congenital anomalies in the fetus.

If no congenital anomaly is present, then NIPT can be done.
Yes, your doctor is right that the NIPT is more sensitive and non-invasive.

Regards
Dr. Deepti Verma



Above answer was peer-reviewed by : Dr. Arnab Banerjee
doctor
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Follow up: Dr. Deepti Verma (35 minutes later)
Thanks Very Much Maam. If there is any further doubts, i hope you will not mind me asking.
doctor
Answered by Dr. Deepti Verma (2 hours later)
Brief Answer:
Happy to help

Detailed Answer:
Hi dear,
I am always available and pleased to clarify the patient's doubts.
You can get back to me anytime by asking a direct question to me on this portal.
Regards
Dr Deepti Verma
Note: For further follow up on related General & Family Physician Click here.

Above answer was peer-reviewed by : Dr. Arnab Banerjee
doctor
Answered by
Dr.
Dr. Deepti Verma

OBGYN, Maternal and Fetal Medicine

Practicing since :2009

Answered : 5064 Questions

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Is Prenatal Testing For Down’s Syndrome Advisable During 13th Week Of Pregnancy?

Brief Answer: Down syndrome screening recommended Detailed Answer: Hi dear, I have gone through your question and understand the concerns. I am happy for both of you and all the best for the future also. The screening for Downs syndrome or trisomy 21 should be done between 11 weeks to 13 weeks 6 days of pregnancy. The screening is done using nuchal transluscency measurement of the fetus by the ultrasound and double marker levels from the mother's blood. This combined screening is 95% sensitive in detecting the risk for Down syndrome. If the risk is high in the test, then amniocentesis ( fetal cell in amniotic fluid karyotyping) or Non invasive prenatal testing (NIPT) is done which is extraction of fetal DNA from the mother's blood and assessing the chromosomes in it. However, since NIPT is more sensitive in detecting Down syndrome, about 99.9%, some obstetricians prefer doing it as a first step in screening, bypassing the Double marker and NT. I will advise you to go for Down syndrome risk assessment, as it is recommended, by either ways whichever is suitable for you. Hope you found the answer helpful. Regards Dr Deepti Verma OBGYN Maternal and fetal medicine specialist