Common "Karyotyping" queries answered by top doctors | iCliniq

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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I had a miscarrage. Please help.

Query: Hello doctor, I had a miscarriage and vacuum Aspirin procedure a month back. The miscarriage was mostly due to low FHR as evident in the report (bradycardia at 6W3D). I had spotting around 10th week and doctor reported it as a missed abortion. I also had high TSH around 6.7 and was on 25 mg Thyronor...  Read Full »


Dr. Balakrishnan R

Answer: Hi, Welcome to icliniq.com. How are you doing? I am very sorry for your loss and do understand the mental stress which you are presently suffering. But let me start on a positive note that you are fine and will surely have a healthy pregnancy. Do not worry about your age and do not feel you are ag...  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 c...  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 imaging for f...  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 cal...  Read Full »

My sister's report shows 46 XY chromosome. Please help.

Query: Hi doctor, My sister is 18 years old, and she has never had periods. Recently, we did a test which said, 46, XY (20), 20 cells were counted, all cells showed 46 chromosomes. Small chromosomal anomalies and small clonal population may not be detected using the standard methods employed. Could you ple...  Read Full »


Dr. Balakrishnan R

Answer: Hi, Welcome to icliniq.com. 46 chromosomes mean the total number of chromosomes is normal. For a normal female, the sex chromosome should be "XX". "XY" means male. So, your sibling who is looking as or phenotypically female is actually or genotypically a male.This is mostly androgen insensitivity s...  Read Full »

Is mild hydrocephalus dangerous?

Query: Hi doctor, My present ultrasound is showing mild hydrocephalus with breech presentation (36 weeks) dilated 13 mm ventricle. No genetic disorder was reported earlier in the second trimester. All the previous ultrasound showed normal and sound growth of the fetus. I had no past problem conceiving my ...  Read Full »


Dr. Nagasirisha Naredla

Answer: Hello, Welcome to icliniq.com. Hydrocephalusmeans an increase in fluid content in the fluid spaces of the brain. This can keep increasing in size or remain the same. Hydrocephalus was detected in the last trimester. As it is now 36 weeks wait for the baby to get delivered. As there is fetal hypoxia...  Read Full »

My wife had a 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 three mont...  Read Full »

I have small gestational sac syndrome. Please help.

Query: Hi doctor, What is a small gestational sac¬†syndrome? What causes this and what is the treatment?  Read Full »


Dr. Ramesh Kumar S

Answer: Hello, Welcome to icliniq.com. Small gestational sac syndrome was present before a fetal death in 10.7 % of the cases, and in 24 % in which the karyotype was normal. We conclude that small gestational sac syndrome is an infrequent but important complication of early pregnancy, which occurs more ofte...  Read Full »

I am a 27-year-old female who have had three recurrent miscarriages. Kindly suggest treatment and investigations to be done.

Query: Hello doctor, I am a 27-year-old female with a weight of 121 pounds and a height of 5 feet 2 inches. I have had three recurrent miscarriages. What treatment is best in this situation? What are the tests required in this situation? Thank you.  Read Full »


Dr. Sanap Sneha Umrao

Answer: Hi, Welcome to icliniq.com. I read your query and understand your concern. Treatment will be dependent on the cause of recurrent abortions. In about 30-50 % of cases, the cause is undetectable. I would suggest you to do the following investigations. USG (ultra sonogram) pelvis scan. Thyroid...  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 to ab...  Read Full »

Can CMV be the cause of echogenic fetal bowel?

Query: Hello doctor, At my 17 week ultrasound, the baby had an echogenic bowel. I was offered for level two ultrasound on the same day. Other than echogenic bowel, I had a normal scan. After that, I was suggested for the quadruple test, which came back low risk (1:2226). At my 19 week ultrasound, echogenic...  Read Full »


Dr. Nilange Umamaheshwari Mrutyunjaya

Answer: Hello, Welcome to icliniq.com. You have undergone level two ultrasound twice by radiologist and geneticists. So, you need not worry. Your triple marker report shows low risk which means there is 99.99 percent no problem. The TORCH (toxoplasmosis, other infections, rubella, cytomegalovirus, and...  Read Full »

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