Karyotyping

Karyotyping is the test done to examine all the chromosomes under the microscope. It is used to identify any genetic or chromosomal disorders in a fetus. The test can be performed on amniotic fluid, blood, bone marrow, or placenta.

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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 »

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 imagin...  Read Full »

Can you please interpret the results of my double marker test?

Query: Hi doctor, I want to know about the double marker test results. I am uploading the reports.  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. I have seen the reports (attachment removed to protect patient identity) and understand your concern. The result is in the high-risk zone, and the next test would be a quadruple test done after two weeks to check for risk of aneuploidies. For more information consult a...  Read Full »

What are the symptoms of Klinefelter syndrome?

Query: Hello doctor, I am an 18 year old, who weighs 95 kg, and I am obese. I have small testicles and penis. My testosterone level is 7.8. The test was done at 9 AM. I have very less body hair, little hair on my legs, and a lot of pubic hair. I have less beard growth and no hair in the armpits. I am con...  Read Full »


Dr. Shaikh Sadaf

Answer: Hello, Welcome to icliniq.com. I just read your query and saw your detailed reports (attachment removed to protect patient identity) and from the history that you mentioned, it does seem that you might be possibly having Klinefelter syndrome but, there are some tests which are not confirming your di...  Read Full »

Kindly provide an opinion on my NT scan and double marker test.

Query: Hi doctor, I am 12 weeks 3 days pregnant. I got my NT scan and double marker blood test results. NT value 1.7 mm at CRL of 52.6 mm, free beta hCG 1.29 MOM, PAPP-A 0.37 MOM, trisomy 21+NT risk 1:513, trisomy 21 1:214 and trisomy 13/18+NT. What is your opinion?  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. The NT value (nuchal translucency) is normal as it is less than 2.5 mm, but the overall trisomy 21 risks being 1:214 and together risk 1:513. This ideally calls for a quadruple test after one week. If the cut-off bar in the graph is over the cut-off line, then it calls...  Read Full »

What does HSV IgG positive mean?

Query: Hi doctor, As my wife had a failed premature delivery, we both had given for chromosome test. The result showed positive for HSV IgG, rubella IgG and CMV IgG. We are very much bothered. Please tell us the reason for this. Does it mean that we are infected with that virus before? Please clarify.  Read Full »


Dr. Radhakrishnan Nair. B

Answer: Hi, Welcome to icliniq.com. I understand your concern. Your karyotyping were normal and it gives the meaning of no chromosomal abnormalities (attachment removed to protect patient identity). Coming to IgG positive test, when you contract a viral infection or after vaccination, the antibody produced ...  Read Full »

After a natural vaginal miscarriage, when is it safe to have sex?

Query: Hi doctor, My wife had a miscarriage at 22 weeks. It was our first baby. Evacuation was normal delivery. After how long can we have sex? She has completed her two periods. Please guide.  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. After a natural vaginal miscarriage, the uterus generally takes around three months to return back to its pre-pregnant state. However, the bleeding usually stops in a week. So, it is advised that pregnancy should not be planned any time before a gap of next th...  Read Full »

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

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

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 »

Karyotype of the abortus shows triplody. Will it affect baby's physical and mental health?

Query: Hello doctor, I am 38 years old and my wife is 36 years old. We are married for the last two years and trying for a baby for the last one year almost. By our gynecologist advise we underwent an IUI cycle which resulted in missed abortion at seven weeks due to no growth of fetus after five weeks. ...  Read Full »


Dr. Sameer Kumar

Answer: Hello, Welcome to icliniq.com. 1. As far as the subserous nature of the fibroid is concerned which is around 7cm x 6 cm, it per se is not going to have an effect or cause hindrance in conception but it is likely that it can cause problems during the pregnancy and in the late third trimester due t...  Read Full »

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