Common "Trisomy" queries answered by top doctors | iCliniq


Trisomy is a genetic condition where there is an additional chromosome, and such people have 57 chromosomes instead of 46. It is not an inherited disorder, but this is a disorder that is caused due to improper egg maturation. Trisomy 21 results in Down syndrome, Trisomy 18 is known as Edwards syndrome, and trisomy 13 is known as Patau syndrome.

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Can mental retardation in fetus be 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 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 »

Kindly provide an opinion on my NT scan and double marker test.

Query: Hi doctor, I am 12 weeks 3 days pregnant. I got my NT scan and double marker blood test results. NT value 1.7 mm at CRL of 52.6 mm, free beta hCG 1.29 MOM, PAPP-A 0.37 MOM, trisomy 21+NT risk 1:513, trisomy 21 1:214 and trisomy 13/18+NT. What is your opinion?  Read Full »

Dr. Sameer Kumar

Answer: Hello, Welcome to The NT value (nuchal translucency) is normal as it is less than 2.5 mm, but the overall trisomy 21 risks being 1:214 and together risk 1:513 . This ideally calls for a quadruple test after one week. If the cut-off bar in the graph is over the cut-off line, then it cal...  Read Full »

Why did my doctor suggest a dual marker test during my pregnancy?

Query: Hello doctor, I am 12 weeks pregnant. My age is 38. My doctor prescribed dual marker test. My PAPP-A report is 1.88 mIU/ml, while FB-hCG is 28.2 ng/ml. NT is 0.90 mm (.65 MoM). Biochem risk +NT is 1:4730, age risk 1:189, trisomy 13/18 + NT is < 1:10000. I am worried about my reports, whether it i...  Read Full »

Dr. Eeshani Dutta

Answer: Hi, Welcome to Heartiest congratulations for your second pregnancy. Well, there is a generalized increased risk with increased age of mother. You are above 35 years, so considering it as an elderly pregnancy, increased surveillance for congenital or chromosomal abnormalities in the ba...  Read Full »

What is the risk of baby being born with Down's syndrome?

Query: Hello doctor, My wife underwent double marker test. Results are as follows. Please tell me if there is any risk factor regarding the pregnancy. Her age is 31 years. PAPP-A : 0.35 MoM, fb-hCG 2.14 MoM, age risk 1:743, biochemical T21 risk 1:54, combined trisomy 21 risk 1:226, trisomy 13/18 + NT.  Read Full »

Dr. Ravinder Kaur Khurana

Answer: Hello, Welcome to Yes, there is a risk of the baby being born with Down's syndrome. To confirm it, there is a test called chorionic villus sampling, where the sample of the placenta is taken, and chromosomal analysis is done to rule out trisomy 21, 18, and 13, which are abnormal chrom...  Read Full »

My double marker shows 1.432. Can my baby have trisomy 21?

Query: Hi doctor, Would you please explain my chances for trisomy 21? I am a 29-years-old, and this is my first pregnancy. My NT scan result was typical (1.5 mm). I underwent the double marker test. The risk for trisomy 21 was 1:438. hCG is 3.44 MoM, and PAPP was 0.53 at 12 weeks. Is that point of concern?...  Read Full »

Dr. Sameer Kumar

Answer: Hi, Welcome to I understand your concern. With NT (nuchal translucency) scan (the attachments are removed to protect the patient's identity) normal and NT less than 2.5 mm and your age less than 30 years, the chances of Down syndrome are low. But ideally, the double marker is less se...  Read Full »

Trisomy 21 is positive in nuchal translucency. What does it indicate?

Query: Hello doctor, My wife is 36-year-old with a height of 5.6 and weight 152 lbs. She had NT or NB scan and double marker test in obstetrical ultrasound. The nuchal thickness is 1.0 mm. Presence of nasal bone. DV flow is normal, but in double marker test, free beta hCG is 46.20 and PAPP-A is 2.58. Triso...  Read Full »

Dr. Nadia Khan

Answer: Hello, Welcome to 1 in 250 means that if we take 250 women of the same results as your wife had then only one will have a baby with Down syndrome. So this is the explanation of the calculated risk of Down syndrome. Secondly, NT (nuchal translucency) and blood tests which she underwent...  Read Full »

Please explain about the factors help to calculate the risk of trisomy 21.

Query: Hi doctor, My NT scan showed me a range of 1.4 mm and my double marker showed me a risk of 1:20300. But my age risk showed a result of 1:176. Which one has to be considered and what it signifies regarding the risk for trisomy 21?  Read Full »

Dr. Uzma Arqam

Answer: Hi, Welcome to I have gone through the query (attachment removed to protect patient identity). Many factors count for calculating risk. They are age, serum markers, family history, and nuchal translucency. An age-related risk is more after 35 years of age. As you are 38 years old, so ...  Read Full »

My baby's femur appears short in sonography. Why?

Query: Hello doctor, My wife is currently pregnant and in her 21st week. We did an organ screening, and in sonography, everything was normal. But a question is being raised that the baby's femur is short (28.02 mm). Because of this, they are saying this could be a reason for Trisomy 21. We both generally a...  Read Full »

Dr. Usha Sadanand Rao

Answer: Hello, Welcome to I read your query and can understand your concern. A short femur length finding on ultrasound may indicate the need for further testing to rule out certain conditions, such as intrauterine growth restriction, Down syndrome, or other chromosomal issues. However, ofte...  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 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 »

Am I at risk of having a baby with trisomy?

Query: Hi doctor, I am 28 years old. I am 23 weeks and three days pregnant now. My first-trimester scan was normal. My anomaly scan was done at 20 weeks six days was fine. My quad test alone is abnormal with raised beta hCG value of 6.54 mIU/mL. Am I at risk of having a baby with trisomy 1? Is it common ...  Read Full »

Dr. Uzma Arqam

Answer: Hi, Welcome to It would be better if you send me your detailed history regarding previous menstrual, obstetrics, gynecology, medical and drug history. Your age is less risky to have genital anomalies as you are too young. Trisomies are more likely to occur in advanced maternal age. Fa...  Read Full »

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