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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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 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 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 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 »

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 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 »

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 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 »

My wife is 14 weeks pregnant and her trisomy risk ratio is 1:6. Does the baby have a risk of Down's syndrome?

Query: Hi doctor, My wife is 37 years old. She is in her 14th week of pregnancy and her trisomy risk ratio has come to 1:6 and her preeclampsia ratio has come to 1:38. bHCG- 163.66 ng/ml. Papp A 3020.04PIGF 21.34 Her eFTS (enhanced first-trimester screening) showed nasal bone (NB) present. The crown ru...  Read Full »

Dr. Arjun Chaudhari

Answer: Hello,Welcome to I read your query and can understand your concern. Blood test results suggest that she has a high risk for Down's syndrome so there is a chance of 1 case of Down syndrome in six examined cases. It must be evaluated further with non-invasive prenatal testing (NIPT) to kn...  Read Full »

NT scan showed a 3 mm nuchal fold thickness. Please suggest.

Query: Hello doctor, I am a healthy 41 year old woman, and I am 12 weeks pregnant for the first time. The results of my NIPT harmony test indicated no risk for trisomy 21, 18, and 13. The results of my blood test and NT scan showed that everything was normal except the nuchal fold thickness was 3 mm. This ...  Read Full »

Dr. Sadaf Mustafa

Answer: Hi, Welcome to of all, I would like to congratulate you on starting this beautiful journey, being a mom of two, I understand your concerns. Here is what I would suggest.Wait till the 18th week to get the anatomical screening. And it has to be checked by a cardiologist. There is no...  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

Answer: Hello, Welcome to 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 »

I am pregnant and positive for Down's syndrome. Please help.

Query: Hi doctor, I am a 30-year-old female, and my NT scan has come normal, but the dual marker test is positive for Down syndrome. Therefore, I have given blood for NIPT. What are the chances of the NIPT result to come positive for Down syndrome?  Read Full »

Dr. Priyadarshini Tripathy

Answer: Hi, Welcome to I read your query and understand your concern. Double marker test shows an increased risk of Down syndrome (1:46). The NT (nuchal translucency) scan detects 70 percent of prenatal Down syndrome cases. The double marker test detects 60 percent of prenatal Down syndrome ...  Read Full »

What do my pregnancy USG reports indicate?

Query: Hello doctor, I am a 23-year-old female and 19 weeks pregnant. The ultrasonography reports are - a bilateral 0.2 inches 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 du...  Read Full »

Dr. Deepti Verma

Answer: Hello, Welcome to 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 echogeni...  Read Full »

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