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What Do My Lab Test Reports Indicate?

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Posted on Fri, 18 Mar 2016
Question: Hi, i am almost 21weeks pregnant. My age 36.5yrs. This is the 1st time i have conceived. My doc had asked me to do an anomaly scan and a quadraple test. I have done so but i am confused with the reports. The quadraple test states trisomy 21 screening- screen positive and risk is 1: 106. Does this mean my baby will have down syndrome? How can i avoid any risk this stage?
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Answered by Dr. Manisha Jain (21 minutes later)
Brief Answer:
Risk explained

Detailed Answer:
Hello Mam, thanks for trusting health care magic.
I understand your health concerns and anxiety about the issue.
Your report is suggestive of high risk (just risk) of having a Down syndrome baby.
Basic interpretation of this result is that if similar hormone levels are found in 106 women of same age and ethnicity then 1 lady will be carrying a Down syndrome baby and other 105 babies will fate normally.
Hence the risk of Down syndrome is 1 in 106 as stated and explained.
Also your ultrasound is showing echogenic focus in the heart of baby which is also a risk factor.
So the plan of action for you will God to get fetal DNA tested for the abnormality via karyotyping if fetal cells.
Fetal cells can be obtained from the amniotic fluid taken from the uterus under ultrasound guidance or from your blood.
Taking amniotic fluid from uterus is a little risky procedure which can result in abortion in 4-8% of cases.
Taking blood from your veins is a simpler method with no risk of abortion but is around 1.5 times costlier.
So just discuss with your gynaecologist and get if find at the earliest.
Also get Fetal echocardiography done at 24 weeks of gestation.
All the best.
Regards
Dr Manisha
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
Dr.
Dr. Manisha Jain

OBGYN

Practicing since :2007

Answered : 5136 Questions

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What Do My Lab Test Reports Indicate?

Brief Answer: Risk explained Detailed Answer: Hello Mam, thanks for trusting health care magic. I understand your health concerns and anxiety about the issue. Your report is suggestive of high risk (just risk) of having a Down syndrome baby. Basic interpretation of this result is that if similar hormone levels are found in 106 women of same age and ethnicity then 1 lady will be carrying a Down syndrome baby and other 105 babies will fate normally. Hence the risk of Down syndrome is 1 in 106 as stated and explained. Also your ultrasound is showing echogenic focus in the heart of baby which is also a risk factor. So the plan of action for you will God to get fetal DNA tested for the abnormality via karyotyping if fetal cells. Fetal cells can be obtained from the amniotic fluid taken from the uterus under ultrasound guidance or from your blood. Taking amniotic fluid from uterus is a little risky procedure which can result in abortion in 4-8% of cases. Taking blood from your veins is a simpler method with no risk of abortion but is around 1.5 times costlier. So just discuss with your gynaecologist and get if find at the earliest. Also get Fetal echocardiography done at 24 weeks of gestation. All the best. Regards Dr Manisha