Trisomy 21

Trisomy 21, also known as Down's syndrome (or DS) is a genetic disorder caused due to an extra copy of genetic material in chromosome number 21. It causes a characteristic facial appearance, developmental delay and learning disabilities.

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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 »

When is double marker test indicated?

Query: Hello doctor,My wife is 28 years old and is in her 13th week of pregnancy. We had an NT test a couple of days back. The NT was 1.7mm. Trisomy 21 had an adjusted scale of 1:3428. Our doctor has advised us to go for a double marker test. The results will be out in two to three days. Is a risk of 1 in ...  Read Full »


Dr. Shalaka Joshi

Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. The NT (nuchal translucency) test and double marker are dependent on each other. A risk of 1 in 3428 is not considered high. You have been asked to go for a blood test so as to conclude the results, as only NT test is not sufficient. For the double marker, NT measureme...  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 »

Can you please help me interpret my NT scan report?

Query: Hello doctor, I am a 44-year-old female. After my three miscarriages, I am 13 weeks pregnant now with IVF treatment. I have got my NT scan with double marker blood test. The results are as follows: Biochemical Trisomy 22 risk: 1:249, combined Trisomy 21 risk. Using NT & Other parameters: 1:946...  Read Full »


Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

Answer: Hello, Welcome to icliniq.com. The NT (nuchal translucency) scan levels of nuchal translucency are normal with NT < 2.5 mm. However biochemical trisomy 21 risk is high but the combined NT+ biochemical risk is low at 1:946. You may upload the picture of the cutoff graph for a convincing opinio...  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 »

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 »

Please explain about the factors help to calculate the risk of trisomy 21.

Query: Hi doctor, My NT scan showed me a range of 1.4 mm and my double marker showed me a risk of 1:20300. But my age risk showed a result of 1:176. Which one has to be considered and what it signifies regarding the risk for trisomy 21?  Read Full »


Dr. Uzma Arqam

Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. I have gone through the query (attachment removed to protect patient identity). Many factors count for calculating risk. They are age, serum markers, family history, and nuchal translucency. An age-related risk is more after 35 years of age. As you are 38 years old, so ...  Read Full »

What is the use of quadruple marker test?

Query: Hello doctor, My wife is 18 weeks pregnant with twin gestations. She has conceived through IUI treatment. We want an urgent and detailed feedback regarding her quadruple marker report. How authentic are the report findings, considering there are no other marker tests done before, like double marker...  Read Full »


Dr. Deepti Verma

Fetal Medicine Specialist, Obstetrician And Gynaecologist

Answer: Hi, Welcome to icliniq.com. I have gone through your question and understand your concerns. I have reviewed the quadruple marker report (attachment removed to protect patient identity). First of all, any serum screening like double or quadruple marker does not accurately assess the risk of chromosom...  Read Full »

Do my wife's NT scan and double marker test results show a high risk for Down's syndrome?

Query: Hi doctor, My wife had NT scan and double marker test at 12 weeks and 3 days of pregnancy. The report is as follows, CRL is 59.2 mm, NT is 1.45 mm, free beta-hCG is 84.84 IU/L, equivalent to 2.217 MoM and PAPP-A 0.712 IU/L equivalent to 0.282 MoM. Trisomy 21 is 1: 450 1:47 and trisomy 18 is 1: 5315...  Read Full »


Dr. Deepti Verma

Fetal Medicine Specialist, Obstetrician And Gynaecologist

Answer: Hi,Welcome to icliniq.com.I have read your question and understand the concerns.The report is showing a high risk for trisomy 21 or Down's syndrome. This first-trimester screening is 95 % sensitive, hence, if the risk is positive, then the amniocentesis should be done to confirm the fetal karyotyp...  Read Full »

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