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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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 imaging for ...  Read Full »

I am a 30-year-old pregnant female and my dual marker test is 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 icliniq.com. 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 »

Is breech position a big concern?

Query: Hi doctor, My wife is 29 weeks pregnant. Today we had one ultrasound scan and the report is as follows. Single live fetus in breech presentation and 2v umbilical cord. Is this a big problem? Will it cause any problem to my baby during or after birth? Thank you.  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. The breech position is not a concern at the moment as it might change till 34 weeks in all and can become cephalic. Your wife's ultrasound report does not show any good sign for the baby's development and a single umbilical artery (2 vessel umbilical cord) is an...  Read Full »

USG at 34 weeks says fetal cavum septi pellucidi width is increased. Should I be worried?

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 exper...  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 »

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 and...  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 sim...  Read Full »

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 »

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 »

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 ...  Read Full »

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