Chromosomal abnormalities can occur during any stage of fetal development or exposure of a fetus to teratogens. The chromosomal abnormalities can be in the form of a deficient or an excess number of chromosomes, an inadequate amount of DNA within chromosomes, and structurally deranged chromosomes. Down syndrome, Turner syndrome, and trisomy 18 are some conditions presenting with chromosomal abnormalities. There is no treatment for chromosomal abnormality.
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Can CPAM type 3 lesions have adverse effects on my baby?
Query: Hello doctor, CPAM type 3 lesions, but ratio is 0.6. Will it cause a serious problem after birth for my baby? Read Full »
Answer: Hi, Welcome to icliniq.com. I have gone through your history and understand your concern. As there is no chromosomal abnormalities in your baby, most likely there is no problem in future but continuous monitoring is important in your case. Read Full »
Can nasal bone length be 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. Previousl... Read Full »
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 0.08 inches. Nasal bone thickness at 23 weeks gestation is irrelevant. If the quadruple test shows low risk of Down's syndrome, then amniocentesis (a test used to ... Read Full »
My baby's scan reveals an echogenic focus of the heart. Why?
Query: Hello doctor, In sonography of the baby's heart, there is an echogenic focus on the left ventricle of the heart. Please suggest. Read Full »
Answer: Hello, Welcome to icliniq.com. Intracardiac echogenic foci in the left ventricles are due to papillary muscle injury/insult and most often resolve spontaneously but they hint at the underlying chromosomal abnormality. I would highly recommend an early anomaly scan this week itself instead of 20 w... Read Full »
My pregnant wife experienced bleeding. What could it be?
Query: Hello doctor, My wife's last period date was two months ago. After one month, we came to know that she is pregnant. She had her first ultrasound 10 days ago and the baby is fine at five weeks and five days with a heartbeat of 114. But for the last three to four days, she saw some blood in her urine.... Read Full »
Answer: Hello, Welcome to icliniq.com. If a repeat ultrasound shows no heartbeat then she has experienced a missed abortion. This means that after the arrival of the heartbeat, the heart has stopped and the fetus is no more alive and not growing. The bleeding is nature's way of aborting the non-developing... 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 »
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 measur... Read Full »
What does it indicate if the double marker test in pregnancy is positive?
Query: Hi doctor,I am in my 29th week of pregnancy. NIPT shows low risk but the double marker test is positive. Kindly go through my ultrasound report and please tell me if everything is fine or not. Read Full »
Answer: Hi, Welcome to icliniq.com. I went through your report (attachment removed to protect the patient's identity), these are the interpretations of your USG (ultrasound) report: Single fetus, which corresponds to 29 weeks, is adequate growth according to both ultrasound scans and dates. A weight of... 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 »
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. Read Full »
What is the purpose of Down's syndrome test?
Query: Hello doctor, I have got the blood test result for Down syndrome and I would like to validate with a doctor. Please help. Read Full »
Answer: Hi, Welcome to icliniq.com. I have seen the reports (attachment removed to protect patient identity). I want to assure you that this test is totally normal. I will explain it. There is always a chance of chromosomal abnormalities in all the fetus. The risk is never zero. This is statistically expr... Read Full »
My sister's report shows 46 XY chromosome. What is this?
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 »
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 »
Do my double marker test results show any complication?
Query: Hi doctor, I am 13 weeks pregnant. I got a double marker test, mentioned below are the findings: hCG free beta-62.50 ng/mL. PAPP-A - 7.17 mlU/mL Trisomy 21-1:250 Trisomy 18/13 -1:100 NT-1.00 mm NT MoM's -0.63 MoM CRL -61.8 mm Is there any complication? Read Full »
Answer: Hello, Welcome to icliniq.com. I have gone through your attached dual screen report and it shows low risk for all the chromosomal abnormality which is absolutely normal. It should be kept in mind that this is a screening test which calculates the risk of carrying a baby with chromosomal abnorma... Read Full »
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