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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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 »
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 »
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 »
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 factors. Previousl... 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 »
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 »
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 doctor said there is a tumor in the fetus. Kindly provide second opinion.
Query: Hello doctor, Please check my antenatal scan reports for three months pregnancy. Read Full »
Answer: Hello, Welcome to icliniq.com. I have gone through the reports (attachment removed to protect patient identity). As per the sonography report, the baby is fine with NT (nuchal translucency) of 2.5 mm. Usually, it is around 1 to 1.8 mm and it is said that there is an increased risk of Down's syndro... 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 »
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 »
How can I find out the risk of Down's syndrome in my second baby?
Query: Hello doctor, My first baby is a Down's syndrome kid. I am currently on Fol G2 (folic acid). Kindly guide me whether my second baby is at risk. Read Full »
Answer: Hi, Welcome to icliniq.com. I understand your concern. Your report is near normal or in the actual term that there is a very low risk according to your age, blood parameters, and sonography. There is a low risk of having this baby positive for Down's syndrome. But, if you have the first baby with po... 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 »
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 »
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 »
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 »