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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What does amniocentesis mean?

Query: Hi doctor, My wife is 27 years old and 13 weeks pregnant now. As per suggestion from doctor, we went for a double marker test. It is found that trisomy 21 + NT risk is 1:86 and doctor suggested for amniocentesis procedure. Now I am confused and do not know what to do. My wife scared that the proce...  Read Full »


Dr. Gowrimeena

Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. From the information you have given, the risk of having a baby with chromosomal problem that is trisomy 21 or Down's syndrome is 1:86. I believe you would have received detailed counseling about this condition prior to and after going through the screening test. ...  Read Full »

What does PAPP-A screen test of 1.9 and hCG level of 65.6 indicate?

Query: Hi doctor, My wife has done a PAPP-A screen test and results are 1.9 and hCG level 65.6. She is 12 weeks pregnant. Please advise regarding the same. Thank you.  Read Full »


Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

Answer: Hello, Welcome to icliniq.com. You need to attach the complete report issued by the laboratory. Important thing is the graph and the MoM (multiple of the median) values which have been calculated as per the gestational age. The risk is calculated accordingly. In case of Down's syndrome...  Read Full »

Can cocaine affect sperm?

Query: Hello doctor, I am a 37 year old male. I had one wild night where we did several lines of cocaine. I have not done it before. And now my wife is pregnant. I have read studies that cocaine use in men prior to impregnation can cause birth defects, etc. Has this one night seven to eight weeks prior cau...  Read Full »


Dr. Megha Tuli Gupta

Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. I understand your dilemma, but be assured a gap of seven to eight weeks is pretty long enough for the drug to be out of our system and cause any damage to your baby. The half life of cocaine is 15 to 50 hours in urine. It is completely excreted out of the system in less t...  Read Full »

What does my double marker blood test indicate?

Query: Hi doctor, I am 12 weeks 5 days pregnant. I got my NT scan and double marker blood test results. NT value 1.1 mm, free b-hCG 1.52 MOM, PAPP-A 0.37 MOM, trisomy 21+NT risk 1:1132, trisomy 21 1:169, trisomy 13/18+NT. In urine culture, there is no significant growth observed after 48 hours. I am curre...  Read Full »


Dr. Jimesh H Mavani

General Practitioner, Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. I have seen the report completely (attachment removed to protect patient identity). Your report is normal and there is no need to worry. If you want a detailed explanation about the report, then here you go. There are some genetic syndromes, which are happening worl...  Read Full »

Trisomy 21 is positive in nuchal translucency. What does it indicate?

Query: Hello doctor, My wife is 36-year-old with a height of 5.6 and weight 69.1 kg. She had NT or NB scan and double marker test in obstetrical ultrasound. The nuchal thickness is 1.0 mm. Presence of nasal bone. DV flow is normal, but in double marker test, free beta hCG is 46.20 and PAPP-A is 2.58. Triso...  Read Full »


Dr. Nadia Khan

Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. 1 in 250 means that if we take 250 women of the same results as your wife had then only one will have a baby with Down syndrome. So this is the explanation of the calculated risk of down syndrome. Secondly, NT (nuchal translucency) and blood tests which she underwen...  Read Full »

Can pregnancy be terminated in the 28th week?

Query: Hi doctor, I am in my late 6th month pregnancy. Recently I went for a scan named targeted imaging for fetal anomalies (TIFFA). All the reports were normal except hypoplastic nasal bone and higher normal values of amniotic fluid. I am approaching you for second consultation now. My questions are, wh...  Read Full »


Dr. Muhammad M. Hanif Md.

Cardiologist, Criticalcare Physician, General Medicine Physician, Internal Medicine Physician

Answer: Hi, Welcome to icliniq.com. I have thoroughly gone through your case and can well understand your genuine health concerns.  Read Full »

My trisomy 21 report value is 1:250. Was it normal?

Query: Hi doctor, I am 12 weeks 5 days pregnant. My NT scan measures 1.6 mm, the double marker PAPP-A is 2.82, and free beta hCG is 36.7 Could you please help with the report? Was it normal? My trisomy 21 is 1:250.  Read Full »


Dr. Nadia Khan

Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. 1 in 250 is a high risk for trisomy which means your risk of having a baby with trisomy 21 is 1 out of 250. But this test is only a screening test which means that they just calculate the risk of having a baby with down syndrome. If someone is found at higher risk li...  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

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

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 »

Can no movement during pregnancy mean Down's syndrome?

Query: Hello doctor, I am 13 weeks pregnant. I have not felt any movement, this is the second pregnancy. I recently went to the hospital two weeks ago and did a blood test, they informed me that I needed a Down's syndrome test done and I have straight Medicaid and no one in my area covers straight Medicai...  Read Full »


Dr. Eeshani Dutta

Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. During the late first trimester, nuchal translucency test by ultrasound and double marker test (BhCG, PAPP-A) are done to rule out 80 % cases of Down's, Edward, Patau syndrome. These are normal screening methods, generally covered in Medicare. If you are screened positive...  Read Full »

Is nasal bone length an indicator of Down's syndrome?

Query: Hi doctor, My quadruple test is normal. After 23 weeks of gestation, I took an anomaly scan, which shows 3.6 mm nasal bone. Is the nasal bone underdeveloped? What are the chances of Down's syndrome? We do not want to get an amniocentesis test done as it increases the chance of miscarriage. Previous...  Read Full »


Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

Answer: Hi, Welcome to icliniq.com. The nasal bone thickness is relevant only between 11 to 13 weeks pregnant scan where it should be less than 2 mm. Nasal bone thickness at 23 weeks gestation is irrelevant. If the quadruple test shows low risk of Down's syndrome, then amniocentesis is not recommended. How...  Read Full »

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