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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Should I be worried about my second-trimester anomaly scan, which is positive for two markers?

Query: Hello doctor, I am a 31 year old female. My first trimester NT and double marker test showed a very low risk of 1:3690 for DS and 1:100000 for two other abnormalities. During the second-trimester anomaly scan, the doctor found two markers, CP cyst and mild RPD 4 mm and 4.5 mm. I have given blood fo...  Read Full »


Dr. Deepti Verma

Answer: Hello, Welcome to icliniq.com. I have gone through your question and understand the concerns. The risk in serum screening is low. Choroid plexus cyst usually resolves by 26 weeks, if present as a normal variant. A renal pelvis more than 7 mm is abnormal, but more than 4 mm is doubtful. Hence, There ...  Read Full »

Is 4.77 mm nasal bone size normal for a nineteenth-week fetus?

Query: Hi doctor, During my TIFFA USG at 19 weeks and 1 day, the fetal nasal bone measured 0.44 mm. Will the fetal nasal bone develop after few weeks, or it indicates a short nasal bone? Or is it too early to conclude? The scan report showed the following: prominent bilateral pelvis, more on the right ...  Read Full »


Dr. Sameer Kumar

Answer: Hi, Welcome to icliniq.com. The standard thickness of the nasal bone ranges between 1.5 to 2.5 mm. Your fetal nasal bone thickness is less for the gestation period, and the presence of echogenic focus in the left ventricle indicates endocardial cushion defect, which is seen in the case of Down's syn...  Read Full »

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. Balakrishnan. R

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 »

My double marker test report is abnormal. Is my baby healthy?

Query: Hi doctor, I had my nuchal translucency scan and double marker blood tests taken a few days ago. I am worried because my NT scan reports are normal, but my double marker test report shows a high risk for trisomy 21. All reports are attached for your guidance and suggestions. Kindly help.  Read Full »


Dr. Balakrishnan. R

Answer: Hi, Welcome to icliniq.com. I hope you are doing well. I read your query, and I can understand your concern. From your history and reports (attachments removed to protect patient\'s identity), I gather that you are 33 years old, which is a low-risk age, and there are no other risk factor...  Read Full »

Other than ultrasound, how can Down's syndrome be diagnosed?

Query: Hi doctor, I am 26 weeks pregnant. Yesterday, I went for an ultrasound scan named targeted imaging for fetal anomalies. Other than hypoplasia of nasal bone, everything is normal. I need an expert opinion regarding advanced tests of ultrasound or amniocentesis, karyotyping or any ultrasound scan to ...  Read Full »


Dr. Sameer Kumar

Answer: Hi, Welcome to icliniq.com. I have gone through your reports (attachment removed to protect patient identity) in toto. At 26 weeks period of gestation, the overall growth of the fetus is fine. But the concern here is hypoplastic nasal bone seen in the second trimester TIFFA (targeted imagin...  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 an...  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 »

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 »

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 calls...  Read Full »

Will Down syndrome patients develop difficulty in eating and swallowing suddenly?

Query: Hi doctor, We have a Down syndrome patient. She started to have difficulty eating for four years. We do not know the reason. Before four years, she uses to drink and eat everything normally. Usually, we take her to the emergency department with lower blood sugar and low pressure (average O2 level a...  Read Full »


Dr. Muhammad Zubayer Alam

Answer: Hi, Welcome to icliniq.com. According to your statement, your daughter has stopped drinking and occasionally eating too. She is a known case of Down syndrome. When she was on IV fluids, then she started drinking and eating. But, after stopping IV infusion, she also stopped drinking and eating....  Read Full »

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