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

Get your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
159 Doctors Online

By proceeding, I accept the Terms and Conditions

Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

HCM Blog Instant Access to Doctors
HCM BlogQuestions Answered
HCM Blog Satisfaction

What Should I Expect From Further Tests After Having Found High Trisomy 21 Risk In Pregnancy?

SIR, I am 39 years old, and now 15 weeks pregnant for first baby, doctor s said that trisomy 21 had high risk, (Nt is 2.3mm and blood test combined) , then doctor told to take Ammonistis test for next week , i am so fearing , and totally mind distrubing , what i can do, what result i get?
Tue, 1 Apr 2014
Report Abuse
General & Family Physician 's  Response
Hi and welcome to HCM
Ultrasound findings associated with trisomy 21 may be divided into 2 groups. The first group comprises the major malformations associated with Down syndrome, including duodenal atresia and cardiac disease.
The second group comprises the screening indicators, including brachycephaly, mild ventriculomegaly, macroglossia, abnormal facies, nuchal edema, echogenic/hyperechoic bowel, pyelectasis, and shortening of the limbs

NT of less than 3.5mm is considered normal. As the NT increases, so does the risk of Down's and other chromosomal abnormalities. In your case it is 2.3mm which is normal.

As your age also very important risk factor for downs syndrome.

Amniocentesis is a prenatal test in which a small amount of amniotic fluid is removed from the sac surrounding the fetus for testing. The sample of amniotic fluid (less than one ounce) is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The fluid is then sent to a laboratory for analysis. Amniocentesis is more than 99 percent accurate in diagnosing downs syndrome.
Its better you to go for amniocentesis and of its come positive for downs syndrome, your doctor will advice you to go for termination of pregnancy for your own good.
Hope for the best

Regards
Dr Santosh
I find this answer helpful
Disclaimer: These answers are for your information only and not intended to replace your relationship with your treating physician.
This is a short, free answer. For a more detailed, immediate answer, try our premium service [Sample answer]
Share on
 

Related questions you may be interested in


Recent questions on Aneuploidy


Loading Online Doctors....
What Should I Expect From Further Tests After Having Found High Trisomy 21 Risk In Pregnancy?

Hi and welcome to HCM Ultrasound findings associated with trisomy 21 may be divided into 2 groups. The first group comprises the major malformations associated with Down syndrome, including duodenal atresia and cardiac disease. The second group comprises the screening indicators, including brachycephaly, mild ventriculomegaly, macroglossia, abnormal facies, nuchal edema, echogenic/hyperechoic bowel, pyelectasis, and shortening of the limbs NT of less than 3.5mm is considered normal. As the NT increases, so does the risk of Down s and other chromosomal abnormalities. In your case it is 2.3mm which is normal. As your age also very important risk factor for downs syndrome. Amniocentesis is a prenatal test in which a small amount of amniotic fluid is removed from the sac surrounding the fetus for testing. The sample of amniotic fluid (less than one ounce) is removed through a fine needle inserted into the uterus through the abdomen, under ultrasound guidance. The fluid is then sent to a laboratory for analysis. Amniocentesis is more than 99 percent accurate in diagnosing downs syndrome. Its better you to go for amniocentesis and of its come positive for downs syndrome, your doctor will advice you to go for termination of pregnancy for your own good. Hope for the best Regards Dr Santosh