Down's Syndrome

Down's syndrome, otherwise called trisomy 21, is a genetic disorder that results from the presence of an extra copy of chromosome 21. This chromosomal change results in physical characteristics like small head, short neck, poor muscle tone, wider and flat nasal bridge, and small ears. It also results in cognitive impairment and memory problems.

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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

Obstetrician And Gynaecologist

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 »

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

Cosmetologist, Dermatologist, Family Physician, General Practitioner, HIV AIDS Specialist, Venereologist

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 »

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

Obstetrician And Gynaecologist

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 ...  Read Full »

What is the purpose of NIPT in delayed pregnancy?

Query: Hi doctor, I am 35 years old. Right now I am14 weeks pregnant. My doctor found out that my baby has a risk of down syndrome. In NT scan at 11 weeks 5 days the CRL was 48 mm and NT was 1.32 mm the double marker test report is showing background risk T 21 1:369 and adjusted risk 1: 911. T 18 backgr...  Read Full »


Dr. Kamalpreet Kaur Nagpal

Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. Your report in the link is not readable (attachment removed to protect patient identity). However, the values that you have written in the query seem to be all within range. For T21 cut off is 1 in 250 and NT 1.3 mm is also fine. May be you are 35 and doctor wants to b...  Read Full »

Please suggest ways to teach a nonverbal child with Down syndrome through online sessions.

Query: Hi! I'm a SPED teacher and currently, I'm about to teach a non-verbal child with down syndrome. I would like to ask where to start. I don't know where and how to start teaching the child, most especially that today, we do online sessions. Also, it's my first time to handle a non-verbal child. Hoping...  Read Full »


Dr. Satyabrata Panigrahi

Audiologist, Speech Therapist

Answer: Hi Icliniq user, It's great to get questions not just from patients but from other professional on this platform. So one line answer is create the situation where he has to communicate verbally. 1. Get the favourite things out of reach. Don't respond to nonverbal modes, like finger p...  Read Full »

Can fetal echo detect Down's syndrome?

Query: Hello doctor, I need an explanatory view for layman understanding in respect of the conclusion drawn in the report attached herewith. I would also need to know the effect on the health of baby and mother (including Down's syndrome) and also other points mentioned in the report.  Read Full »


Dr. Sagar Ramesh Makode

Cardiologist, General Medicine Physician, Internal Medicine Physician, Family Physician, General Practitioner

Answer: Hello, Welcome to iclinq.com. Basically report is normal (attachment removed to protect patient identity) and there is no evidence of any heart disease in the baby. However, since it is difficult to completely visualize the baby's heart as it is small and deeply seated, some diseases may be missed...  Read Full »

What is the chance of choroid plexus cyst in fetus lead to Down syndrome?

Query: Hi doctor, I am 34 weeks pregnant and my baby's choroid plexus cysts did not clear. We did the genetic testing in the early stage of pregnancy and it was negative for trisomy 18 and 21. We had four growth ultrasounds, but no one reported anything else wrong with the baby. I am scared that they di...  Read Full »


Dr. Chitrangada

Radiodiagnosis Physician, Radiologist

Answer: Hello, Welcome to icliniq.com. I was able to see the images and reports. (attachment removed to protect patient identity). Apart from the cysts they have not reported any frank worrying features. The nasal bone and face profile images are not very clear. In Down's, the nasal bone may be absent o...  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

Obstetrician And Gynaecologist

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 »

What to do if my double marker test comes back abnormal?

Query: Hi, doctor I am 13 weeks pregnant last week I undergone for NT scan the report was normal and the same time I gave double marker blood test. Yesterday from the hospital they called me for blood test because the first report shows abnormal. I am so scared whether second time double marker test shows ...  Read Full »


Dr. Tinu Philip

Obstetrician And Gynaecologist

Answer: Hello, First of all congrats on your pregnancy. Let me clarify that double marker is only a screening test .It's not a confirmatory test. Double markers are not repeated if they r showing high risk.Sonif the lab has asked for a second sample ,it may be due to some other reason. It means even if we...  Read Full »

What is the risk of Down syndrome at delayed pregnancy?

Query: Hello doctor, Please explain my NT scan report and double marker test. My present age is 44 years. My NT scan was done on 12w 5d. Crl - 64.1 mm Nasal bone present Nt - 1.8 mm Ductus venosus - normal flow Placenta - anterior Double marker result: Hcg corr mom - 1.64 Nb present Nt corr mom ...  Read Full »


Dr. R Balakrishnan Menon

Infertility Specialist, Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. NT scan is just a screening test to pick-up cases of Trisomy. Nuchal translucency of <3.2 mm, nasal bone seen and normal blood flow in ductus means the chance of trisomy is very low. To confirm this doctor has done a double marker test. They too are within normal li...  Read Full »

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