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

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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All the answers published in this website are written by verified medical doctors, therapists and health experts. The Content has been moderated by iCliniq medical review team before publication. Post your medical clarifications on iCliniq by choosing the right specialty and get them answered. Your medical queries will be answered 24/7 by top doctors from iCliniq.

Can cocaine affect sperm?

Query: Hello doctor, I am a 37 year old male. I had one wild night where we did several lines of cocaine. I have not done it before. And now my wife is pregnant. I have read studies that cocaine use in men prior to impregnation can cause birth defects, etc. Has this one night seven to eight weeks prior cau...  Read Full »


Dr. Megha Tuli

Answer: Hi, Welcome to icliniq.com. I understand your dilemma, but be assured a gap of seven to eight weeks is pretty long enough for the drug to be out of our system and cause any damage to your baby. The half life of cocaine is 15 to 50 hours in urine. It is completely excreted out of the system in les...  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. Balakrishnan R

Answer: Hi, Welcome to icliniq.com. NT scan is just a screening test to pick-up cases of Trisomy. Nuchal translucency of less than 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 norm...  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 »

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 icliniq.com. 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 »

Is it risky if the NT scan shows 3 to 5 mm thickness?

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 »

The ultrasound shows dent on the baby's head. Please help.

Query: Hello doctor, I am 34 weeks pregnant. Until two weeks ago, all the ultrasound reports were normal. The chance of Down's syndrome was 1 in 20000. But, two weeks ago they accidentally noticed a dent on my baby's head and cavum septi pellucidi (CSP) was slightly more than the 2SD. I was told to repeat ...  Read Full »


Dr. Aishwarya Parthasarathy

Answer: Hello, Welcome to icliniq.com. Cavum septi pellucidi is a structure present normally in the skull and identified in the ultrasound. When it is bigger, it can be a marker of a developmental problem in the child, but not with strong evidence. I suggest you consult a genetic or fetal medicine expert ...  Read Full »

Please review my NT and double marker reports.

Query: Hello doctor, I was recommended for NIPT, early TIFA scan and then amniocentesis if needed. Here are my NT and double marker reports. Kindly interpret the real risk level for me and what should be the next step ahead if there is any concern. My blood sample for the double marker was collected at eig...  Read Full »


Dr. Deepali Raina

Answer: Hello, Welcome to icliniq.com. From your reports (attachment removed to protect patient identity), the risk is relatively high for you. But, it does not mean that the baby has Down's syndrome. Amniocentesis is the next step for your for confirmation. If money is a concern, you can wait for another ...  Read Full »

Does NT scan show signs of Down's syndrome in fetus?

Query: Hello doctor,My wife, aged 30 years, is 17 weeks pregnant with our second child. The prenatal (first trimester) screening report indicated a calculated risk for Down’s syndrome as 1:544 (final). NT at 12 weeks 5 days was 1.8 mm. Considering this an intermediate risk, our OBGYN advised Early Anomal...  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. Considering the fact that firstly, your NT scan measured 1.8 mm which was below 2.5 mm cut off and hence was normal for gestational age. Secondly, the cut off for trisomy 21 being 1: 250 and age related risk as well were lower with 1:544 and 1: 815, so the screen was...  Read Full »

Is there any alternative other than GA for highly uncooperative patients during dental procedures?

Query: Hi doctor, My brother is 29 years old with Down syndrome, and he is completely non-cooperative with dentists. He had nine teeth removed (two up and seven down) under general anesthesia. As three teeth were broken when the dentist was trying to clean them, they were removed. Since my brother has no ...  Read Full »


Dr. Bharat Joshi

Answer: Hello, Welcome to icliniq.com. I hope I can lessen your discomfort. Yes, conscious sedation can be a better option than general anesthesia. Talk to the concerned oral surgeon and get him treated under conscious sedation. Also, the complications associated with general anesthesia are the same in ev...  Read Full »

I am 22 weeks pregnant, scan shows delayed growth. Why?

Query: Hi doctor, I am a 35 year old female. I am 22 weeks and two days pregnant and was told at my last scan that the baby is about 10 days behind in size. All the other readings were normal, and the growth of the brain was normal for the gestational age. We are not very tall people. My husband is 5 feet ...  Read Full »


Dr. Sanjay Kumar Bhattacharyya

Answer: Hello, Welcome to icliniq.com. I can understand your concern. There is always some discrepancy while trying to assess the fetal age by ultrasonography (USG) and comparing it with your last menstruation period date. The discrepancies are: In a USG done in the first three months, there is a discrepan...  Read Full »

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