Common "Down Syndrome" queries answered by top doctors | iCliniq

Down Syndrome

Down syndrome is a genetic condition in which a baby is born with an extra chromosome. Usually, a child is born with 46 chromosomes, but in cases like down syndrome, the child inherits an extra copy of these chromosomes (chromosome 21). Therefore, it is medically termed trisomy 21. As a result, the child's appearance includes a short neck, small ears, a flat face, and short height.

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Does my baby have a higher risk of Down syndrome?

Query: Hi doctor, My wife had NT scan and double marker test at 12 weeks and 3 days of pregnancy. The report is as follows, CRL is 59.2 mm, NT is 1.45 mm, free beta-hCG is 84.84 mIU/mL, equivalent to 2.217 MoM and PAPP-A 0.712 IU/L equivalent to 0.282 MoM. Trisomy 21 is 1: 450 1:47 and trisomy 18 is 1: 531...  Read Full »


Dr. Deepti Verma

Answer: Hi, Welcome to icliniq.com. I have read your question and understand the concerns. The report is showing a high risk for trisomy 21or Down's syndrome. This first-trimester screening is 95 % sensitive, hence, if the risk is positive, then the amniocentesis should be done to confirm the fetal karyotyp...  Read Full »

What is the risk of Down's in the double marker report?

Query: Hi doctor, This is the report of double marker test of my wife: Corrected MoM and calculated risks: fb-hCG 165 ng/ml 3.82 Corr. MoM PAPP-A 1.84 mlU/ml o.45 Corr. MoM Ultrasound data: Nuchal translucency 1.00 mm CRL 60 mm 0.64 MoM Gestational age by CRL 12+ 2 Nasal bone present Gestational age on th...  Read Full »


Dr. Sravanthi Nuthalapati

Answer: Hello, Welcome to icliniq.com. To explain you the report in plain language, first of all, let me tell you that the dual marker test is just a screening test for Down's syndrome and other chromosomal anomalies like trisomy 13/18. So, the test involves calculation of the risk of carrying a Down's...  Read Full »

My baby's ultrasound revealed a Down syndrome risk. Why?

Query: Hi doctor, I am 19 years old. I am 21 weeks pregnant now. I did an ultrasound yesterday. I was told that my baby is about two weeks smaller than it should be at 21 weeks. I was also told that my baby's nasal bone is hypoplastic and not very visible. My baby is at risk of having Down's syndrome. I w...  Read Full »


Dr. Uzma Arqam

Answer: Hi, Welcome to icliniq.com. In the case of a history of irregular periods, there could be a discrepancy between dates and scan finding. So there is no need for worrying. If the growth is not healthy for the baby or if the growth is restricted, then you should take it as a concern. You are going to...  Read Full »

How can I find out the risk of Down's syndrome in my second baby?

Query: Hello doctor, My first baby is a Down's syndrome kid. I am currently on Fol G2 (folic acid). Kindly guide me whether my second baby is at risk.  Read Full »


Dr. Mavani Jimesh Himatbhai

Answer: Hi, Welcome to icliniq.com. I understand your concern. Your report is near normal or in the actual term that there is a very low risk according to your age, blood parameters, and sonography. There is a low risk of having this baby positive for Down's syndrome. But, if you have the first baby with po...  Read Full »

Kindly suggest whether a scan is enough to detect down's syndrome.

Query: Hello doctor, My wife is three months pregnant, so we went for a scan to check for Down's syndrome and the baby's brain growth. I have attached the scan report. Please suggest if everything is fine, as we did not see our normal doctor.  Read Full »


Dr. Balakrishnan R

Answer: Hi, Welcome to icliniq.com. Nice to hear from you. I have seen the scan report (attachment removed to protect patient identity). The scan is absolutely fine. Down's syndrome is diagnosed early from this scan. The nuchal translucency of 1.3 mm is normal (up to 2.5 mm is fine). The nasal bo...  Read Full »

Can pregnancy be terminated in the 28th week?

Query: Hi doctor, I am in my late 6th month pregnancy. Recently I went for a scan named targeted imaging for fetal anomalies (TIFFA). All the reports were normal except hypoplastic nasal bone and higher normal values of amniotic fluid. I am approaching you for second consultation now. My questions are, wha...  Read Full »


Dr. Muhammad Majid Hanif

Answer: Hi, Welcome to icliniq.com. I have thoroughly gone through your case and can well understand your genuine health concerns. We can better comment on the outcome after getting the results of the amniocentesis. Even if it is Down's syndrome, people usually go for keeping the fetus alive and they go fo...  Read Full »

I am pregnant along with IUD and scan shows increased risk of Down's syndrome. Please help.

Query: Hi doctor, I am 16 weeks and 6 days pregnant with a copper IUD still in the womb. I have done a quad test at 15 weeks and 6 days which came back with a high risk of down syndrome (1 in 5). Results were: AFP 33 kU/L (1.17 mom). Inhibin-A 430 pg/mL (1.99 mom). HcG 157 ku/L (5.40 mom). UE3UPD 0.8 ...  Read Full »


Dr. Poonguzhali Liston

Answer: Hello, Welcome to icliniq.com. Your age, your history of being non-smoker and the absence of diabetes puts you in the low-risk category for Down's syndrome (unless you have a family history), but the results of ur quadruple test point to a high risk of Down syndrome. This is only a screening test...  Read Full »

Dual marker test shows high risk for Down's syndrome. Kindly advice.

Query: Hello doctor, I have done a dual marker test. My age is 34 years old. The disorder is Down's syndrome. Result increased. Final risk 1:212. Age risk : 1:433. Cut off : 1:250.  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. The risk as mentioned is high. So the next step would be to get a quadruple marker at 14 to 16 weeks and if positive then amniocentesis for fetal cell karyotyping can be done to get a conclusive result to rule out Down's syndrome. If you prefer non invasive test for ...  Read Full »

What is the purpose of Down's syndrome test?

Query: Hello doctor, I have got the blood test result for Down syndrome and I would like to validate with a doctor. Please help.  Read Full »


Dr. Deepali Raina

Answer: Hi, Welcome to icliniq.com. I have seen the reports (attachment removed to protect patient identity). I want to assure you that this test is totally normal. I will explain it. There is always a chance of chromosomal abnormalities in all the fetus. The risk is never zero. This is statistically expr...  Read Full »

Should I repeat the torch test done earlier during my pregnancy?

Query: Hi doctor, During my previous pregnancy last year, due to a Down syndrome issue, the baby's brain was not formed properly. This was detected at the end of the fourth month. At that time, I did not go for a TORCH test. Now, I am pregnant again. At the third week check up, he did a TORCH test. IgG and...  Read Full »


Dr. Deepti Verma

Answer: Hello, Welcome to icliniq.com. I have gone through your query and understand the concerns. You having a history, of the brain of the baby not forming properly due to Down Syndrome in the last pregnancy, is not an indication for getting a TORCH (toxoplasmosis, rubella cytomegalovirus, herpes simplex...  Read Full »

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