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

Markers Of Down's Syndrome

Down syndrome, otherwise called trisomy 21, is a common genetic disorder that results in children born with delays in physical growth, intellectual disability, etc. Various markers are used to identify the presence of Down syndrome in the fetus during the second trimester in an ultrasound. Increased nuchal fold and structural malformations are the most common markers used.

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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 »

Does a hypoplastic nasal bone suggest Down syndrome?

Query: Hi doctor, I am a 29-year-old pregnant woman and went through an anomaly scan. An anomaly scan showed hypoplastic nasal bone in the baby that might lead to Down syndrome. However, in my third-month NT scan, the baby's nasal bone was seen. Also, in the double marker test, Down syndrome was at low r...  Read Full »


Dr. Poonguzhali Liston

Answer: Hello, Welcome to icliniq.com. I understand your concern. NT (nuchal translucency)scan and double marker are screening tests that only tell if the baby is at high or low risk for Down syndrome. It does not rule it out completely. Hypoplastic nasal bone (not well-developed nasal bone) is only one o...  Read Full »

Which test should be done in first trimester, NTNG scan or dual marker?

Query: Hello doctor, Which test should be done prior? NTNG scan or dual marker for pregnant women? LMP was two months back.   Read Full »


Dr. Amit Kyal

Answer: Hello, Welcome to icliniq.com. First-trimester screening for Down's syndrome should be done in all pregnancy between 11 to 14 weeks. The first-trimester screening for Down's syndrome includes ultrasound for NT/NB scan and on the same day, blood is taken for the dual marker (B hCG and PAPP-A). Ther...  Read Full »

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