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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Pregnant, Tests Show Downs Syndrome. Probability For Healthy Child?

dear sir/ma'm

we are in very much tense due to Triple marker test result ,it is showing DOWN SYNDROME ,my wife is pregnant ,her LMP is 6th may 2013.
now my gynec suggest me to do AMNIOCENTESIS test for further investigation ,ma'm i want to know how much probability for my healthy baby.is it can be cured by medicine? what is your opinion ,please find the attachment for all the reports.we are very much feeling insecure ,please give me some guidance for the same.
Wed, 25 Sep 2013
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Pathologist and Microbiologist 's  Response
Hi!
welcome to HCM!
Triple test is a screening test done between 16 and 18 weeks of pregnancy to help identify fetuses at risk of having Trisomy 21 (Down's syndrome), Trisomy 18, and neural tube defects.
The triple screen test is a maternal blood screening test that looks for three specific substances: AFP, hCG, and Estriol.
High levels of AFP may suggest that the developing baby has a neural tube defect such as spina bifida or anencephaly. However, the most common reason for elevated AFP levels is inaccurate dating of the pregnancy.
Low levels of AFP and abnormal levels of hCG and estriol may indicate that the developing baby has Trisomy 21( Down syndrome), Trisomy 18 (Edwards Syndrome) or another type of chromosome abnormality.

It is important to remember that the triple test is a SCREENING test and not a diagnostic test. This test only notes that a mother is at a possible risk of carrying a baby with a genetic disorder. The triple screen test is known to have a high percent of false positive results.
You must check whether your test was done between 16-18 weeks.you can go for repeat testing,a second triple screen followed by a high definition ultrasound. If the testing still maintains abnormal results, a more invasive procedure like amniocentesis may be performed.
Invasive testing procedures should be discussed thoroughly with your doctor and between you and your partner.
I sincerely hope this will help you!take care!
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Note: For detailed guidance on genetic screening consult a genetics specialist
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Pregnant, Tests Show Downs Syndrome. Probability For Healthy Child?

Hi! welcome to HCM! Triple test is a screening test done between 16 and 18 weeks of pregnancy to help identify fetuses at risk of having Trisomy 21 (Down s syndrome), Trisomy 18, and neural tube defects. The triple screen test is a maternal blood screening test that looks for three specific substances: AFP, hCG, and Estriol. High levels of AFP may suggest that the developing baby has a neural tube defect such as spina bifida or anencephaly. However, the most common reason for elevated AFP levels is inaccurate dating of the pregnancy. Low levels of AFP and abnormal levels of hCG and estriol may indicate that the developing baby has Trisomy 21( Down syndrome), Trisomy 18 (Edwards Syndrome) or another type of chromosome abnormality. It is important to remember that the triple test is a SCREENING test and not a diagnostic test. This test only notes that a mother is at a possible risk of carrying a baby with a genetic disorder. The triple screen test is known to have a high percent of false positive results. You must check whether your test was done between 16-18 weeks.you can go for repeat testing,a second triple screen followed by a high definition ultrasound. If the testing still maintains abnormal results, a more invasive procedure like amniocentesis may be performed. Invasive testing procedures should be discussed thoroughly with your doctor and between you and your partner. I sincerely hope this will help you!take care!