Markers Of Down's Syndrome

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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

Obstetrician And Gynaecologist

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 USG for NT/NB scan and on the same day, blood is taken for the dual marker (BhCG and PAPA-A). Thereafter, ...  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 »

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 »

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 »

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

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

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 aberra...  Read Full »

What is the risk of Down's in my wife's double marker report?

Query: Hi Doctor, This is the report of Double Marker test of my wife: Corrected MoM and calculated risks: fb-hCG 165 ng/ml 3.82 Corr. MoM PAPP-A 1.84 mlU/ml o.45 Corr. MoM Ultrasound data: Nuchal translucency 1.00 mm CRL 60 mm 0.64 MoM Gestational age by CRL 12+ 2 Nasal bone present Gesta...  Read Full »


Dr. Sravanthi Nuthalapati

Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. To explain you the report in plain language, first of all, let me tell you that the dual marker test is just a screening test for Down's syndrome and other chromosomal anomalies like trisomy 13/18. So, the test involves calculation of the risk of carrying a Down's sy...  Read Full »

My 20 weeks scan mentions an echogenic focus in the heart. Is something wrong?

Query: Hello doctor, I am a 33 year old female. I have had two miscarriages in the past, at the sixth and fifth week respectively. I am now 20 weeks pregnant. Recently, I had a level 2 ultrasound which suggested everything to be normal except for an echogenic focus on the left ventricle of the heart. No...  Read Full »


Dr. R Balakrishnan Menon

Infertility Specialist, Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. I have read your query and gone through your reports (attachment removed to protect patient identity). I do not see any reason for concern. Let me explain.  Miscarriages at different gestational ages have various reasons. A loss at the fifth and sixth week is usually ...  Read Full »

Dual marker test shows high risk for Down's syndrome. Kindly advice.

Query: Hello doctor, I have done a dual marker test. My age is 34 years old. The disorder is Down's syndrome. Result increased. Final risk 1:212. Age risk : 1:433. Cut off : 1:250.  Read Full »


Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

Answer: Hello, Welcome to icliniq.com. The risk as mentioned is high. So the next step would be to get a quadruple marker at 14 to 16 weeks and if positive then amniocentesis for fetal cell karyotyping can be done to get a conclusive result to rule out Down's syndrome. If you prefer non invasive test for ...  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 repea...  Read Full »


Dr. Aishwarya Parthasarathy

Obstetrician And Gynaecologist

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 »

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