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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My pregnancy USG reports indicate a bilateral choroid plexus cyst and echogenic intracardiac focus. What to do?

Query: Hello doctor,I am a 23-year-old female and 19 weeks pregnant. The ultrasonography reports are - a bilateral 5 mm choroid plexus cyst and a small echogenic intracardiac focus in the left ventricle. What does this mean? Please help. I take vitamin C tablets daily and had a double marker test during my...  Read Full »


Dr. Deepti Verma

Answer: Hello, Welcome to icliniq.com. I read your query and understand your concern. I reviewed the report (attachment removed to protect patient's identity). In this situation, I suggest you go for an amniocentesis to confirm the fetal karyotype and rule out trisomy of 21 or Down's syndrome. The echogenic...  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? Doe...  Read Full »


Dr. R Balakrishnan Menon

Answer: Hi, Welcome to icliniq.com. How are you doing? 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 cha...  Read Full »

Can you please interpret the results of my double marker test?

Query: Hi doctor, I want to know about the double marker test results. I am uploading the reports.  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. I have seen the reports (attachment removed to protect patient identity) and understand your concern. The result is in the high-risk zone, and the next test would be a quadruple test done after two weeks to check for risk of aneuploidies. For more information consult a...  Read Full »

What does it indicate if the double marker test in pregnancy is positive?

Query: Hi doctor,I am in my 29th week of pregnancy. NIPT shows low risk but the double marker test is positive. Kindly go through my ultrasound report and please tell me if everything is fine or not.  Read Full »


Dr. Poonguzhali Liston

Answer: Hi, Welcome to icliniq.com. I went through your report (attachment removed to protect the patient's identity), these are the interpretations of your USG (ultrasound) report: Single fetus, which corresponds to 29 weeks, is adequate growth according to both ultrasound scans and dates. A weight of 1.2...  Read Full »

What should a pregnant woman's hCG value be during the 17th week?

Query: Hi doctor, I am 17 weeks pregnant. As per my quadruple marker screening report, I have 1:283 risk for trisomy 21. My hCG level is coming high in report 130958 mlU/mL. A blood sample is taken at 16 weeks 4 days of gestational age. Please have a look and advise me what to do further. Doctor to whom ...  Read Full »


Dr. Neha Singh Rathod

Answer: Hi, Welcome to icliniq.com. Since you have a very low risk, I think you must repeat your beta hCG (human chorionic gonadotropin) levels rather than the amniocentesis. However, if you want to be doubly sure, just go with the suggestion of your doctor. It is always better to get checked. Having gone t...  Read Full »

What are the pregnancy risks when the mother is 40 years old?

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. R Balakrishnan Menon

Answer: Hello, Welcome to icliniq.com. How are you doing? 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 ...  Read Full »

Can you please help interpret my triple marker test report?

Query: Hi doctor,Please see my attached report and suggest the further step to be taken.  Read Full »


Dr. Atishay Bukharia

Answer: Hi, Welcome to icliniq.com. Please send a clear photograph, which can be readable. This report (attachment removed to protect patient identity) is regarding the risk of Down syndrome in a fetus. As we are unable to read the exact value, I am unable to comment further. Revert back with clear photos t...  Read Full »

Will high risk trisomy 21 increase with pregnancy after 30 years of age?

Query: Hello doctor, What does high risk 1:50 trisomy 21 mean, at an age of 32 and 18 weeks pregnancy?  Read Full »


Dr. Sravanthi Nuthalapati

Answer: Hello, Welcome to icliniq.com. I totally understand your anxiety. But please do not panic. The risk for Trisomy 21 (or in other words Down's syndrome) mentioned is 1:50, which is above the general population risk of 1:250. In other words, if we take a general population, and consider any women i...  Read Full »

Can mental retardation in fetus detected in 30 weeks ultrasound?

Query: Hello doctor, If nasal bone is absent due to trisomy 21, will that fetus suffer from mental retardation? Can mental retardation or other such problems detected by ultrasound at 30 weeks?  Read Full »


Dr. Mishra Keeranmayee Mihirkumar

Answer: Hi, Welcome to icliniq.com. Absent nasal bone is a soft tissue in ultrasound to diagnose Trisomy 21. Absent fetal nasal bone is one of the strongest soft markers in the second-trimester ultrasound screening. Detailed prenatal diagnosis is advisable to rule out abnormal karyotype when absent nasal ...  Read Full »

What does amniocentesis mean?

Query: Hi doctor, My wife is 27 years old and 13 weeks pregnant now. As per suggestion from doctor, we went for a double marker test. It is found that trisomy 21 + NT risk is 1:86 and doctor suggested for amniocentesis procedure. Now I am confused and do not know what to do. My wife scared that the proce...  Read Full »


Dr. Gowrimeena

Answer: Hi, Welcome to icliniq.com. From the information you have given, the risk of having a baby with chromosomal problem that is trisomy 21 or Down's syndrome is 1:86. I believe you would have received detailed counseling about this condition prior to and after going through the screening test. ...  Read Full »

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