Common "Trisomy 21" queries answered by top doctors | iCliniq

Trisomy 21

Trisomy 21, also known as Down's syndrome (or DS) is a genetic disorder caused due to an extra copy of genetic material in chromosome number 21. It causes a characteristic facial appearance, developmental delay and learning disabilities.

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What are the risks of pregnancy if mom's age is 40 years?

Query: Hello doctor, I am a 40 year old female. I did nuchal translucency (NT) scan at 12 weeks and 1 day. The result reads NT 1.1 mm. Free beta hCG 25.9 ng/ml. PAPP-A 0.53. My sugar levels and BP are normal. I am taking Aspirin and Enoxaparin every day. Kindly tell me about my risks.  Read Full »


Dr. Balakrishnan R

Answer: Hello, Welcome to icliniq.com. I see nothing for you to worry about. Let me explain. Here age is the only factor, but this is only a relative term. In the general population, the risk of genetic problems is high after 40 years, and we tend to screen all the pregnant ladies around this age group. N...  Read Full »

Can you please help me interpret my NT scan report?

Query: Hello doctor, I am a 44-year-old female. After my three miscarriages, I am 13 weeks pregnant now with IVF treatment. I have got my NT scan with double marker blood test. The results are as follows: Biochemical Trisomy 22 risk: 1:249, combined Trisomy 21 risk. Using NT & Other parameters: 1:946. ...  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. The NT (nuchal translucency) scan levels of nuchal translucency are normal with NT less than 2.5 mm. However biochemical trisomy 21 risk is high but the combined NT+ biochemical risk is low at 1:946. You may upload the picture of the cutoff graph for a convincing ...  Read Full »

Is it risky if the NT scan shows 3 to 5 mm thickness in a three-month pregnant woman?

Query: Hello doctor, I am a 33 year old female, who has a 5 year old baby girl. I had two miscarriages, one two years back at 11 weeks, and one last year at nine weeks. Now, I am three months pregnant, and I had a NT scan, which showed a thickness of 3 to 5 mm. Is this a case of high-risk pregnancy? Does i...  Read Full »


Dr. Balakrishnan R

Answer: Hi, Welcome to icliniq.com. Let me put forth few facts. Your age is in normal limits and not in high-risk for anomalies or genetic problem. Only after 37 to 40 years it is high-risk. You do not seem to have any medical complications. You have one 5 year old child, so the chance of next healthy preg...  Read Full »

What does my double marker blood test indicate?

Query: Hi doctor, I am 12 weeks 5 days pregnant. I got my NT scan and double marker blood test results. NT value 1.1 mm, free b-hCG 1.52 MOM, PAPP-A 0.37 MOM, trisomy 21+NT risk 1:1132, trisomy 21 1:169, trisomy 13/18+NT. In urine culture, there is no significant growth observed after 48 hours. I am curren...  Read Full »


Dr. Mavani Jimesh Himatbhai

Answer: Hello, Welcome to icliniq.com. I have seen the report completely (attachment removed to protect patient identity). Your report is normal and there is no need to worry. If you want a detailed explanation about the report, then here you go. There are some genetic syndromes, which are happening worl...  Read Full »

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