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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I am 29 years old and pregnant for the second time. Please interpret my double marker test results.
Query: Hello doctor, My age is 29, and I am pregnant for the second time. I am 11 weeks and 6 days pregnant. Recently, my doctor advised me of a double marker test. The PAPP-A is 0.48 MoM, and FB-hCG is 0.33 MoM. The calculated risk for trisomy 13/19 is 1:3142 and shows low risk, and the calculated risk fo... Read Full »
Answer: Hello, Welcome to icliniq.com. I thoroughly read your query and understand your concern. Biochemistry (two hormones levels), nuchal translucency, family history, and female age all combine to calculate risk. It would be better if you send me reports of the same and some detailed history. As you s... Read Full »
I am 21 weeks pregnant, and my baby's femur appears short in sonography. Could it be trisomy 21, as my doctor suspects?
Query: Hello doctor, My wife is currently pregnant and in her 21st week. We did an organ screening, and in sonography, everything was normal. But a question is being raised that the baby's femur is short (28.02 mm). Because of this, they are saying this could be a reason for Trisomy 21. We both generally a... Read Full »
Answer: Hello, Welcome to icliniq.com. I read your query and can understand your concern. A short femur length finding on ultrasound may indicate the need for further testing to rule out certain conditions, such as intrauterine growth restriction, Down syndrome, or other chromosomal issues. However, ofte... Read Full »
What is the risk of trisomy 21 from my NT scan and double marker test?
Query: Hi doctor, I had an NT scan and a double marker test at 12 weeks and five days of pregnancy. The report is as follows. Maternal serum screen 2: Dual test. (CLIA) HCG, Free Beta 69.00 ng/mL equivalent to 1.81 Corr.MOM's PAPP-A 1.40 mIU/mL equivalent to 0.36 Corr.MOM's Disorder screen positive cut ... Read Full »
Answer: Hello, Welcome to icliniq.com. I have gone through your question and understand the concerns. I have reviewed the report (attachment removed to protect the patient's identity). It shows an increased risk in the first-trimester screening. You should go for amniocentesis at 16 weeks gestation to rul... Read Full »
I am pregnant, and my double marker test value is 1.432. What are the chances of my baby having trisomy 21?
Query: Hi doctor, Would you please explain my chances for trisomy 21? I am a 29-years-old, and this is my first pregnancy. My NT scan result was typical (1.5 mm). I underwent the double marker test. The risk for trisomy 21 was 1:438. hCG is 3.44 MoM, and PAPP was 0.53 at 12 weeks. Is that point of concern?... Read Full »
Answer: Hi, Welcome to icliniq.com. I understand your concern. With NT (nuchal translucency) scan (the attachments are removed to protect the patient's identity) normal and NT less than 2.5 mm and your age less than 30 years, the chances of Down syndrome are low. But ideally, the double marker is less se... Read Full »
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 »
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 »
Is 4.77 mm nasal bone size normal for a nineteenth-week fetus?
Query: Hi doctor, During my TIFFA USG at 19 weeks and 1 day, the fetal nasal bone measured 0.44 mm. Will the fetal nasal bone develop after few weeks, or it indicates a short nasal bone? Or is it too early to conclude? The scan report showed the following: prominent bilateral pelvis, more on the right ... Read Full »
Answer: Hi, Welcome to icliniq.com. The standard thickness of the nasal bone ranges between 1.5 to 2.5 mm. Your fetal nasal bone thickness is less for the gestation period, and the presence of echogenic focus in the left ventricle indicates endocardial cushion defect, which is seen in the case of Down's syn... Read Full »
Is it risky if the NT scan shows 3 to 5 mm thickness in a three-month pregnant woman?
Query: Hello doctor, I am a 33 year old female, who has a 5 year old baby girl. I had two miscarriages, one two years back at 11 weeks, and one last year at nine weeks. Now, I am three months pregnant, and I had a NT scan, which showed a thickness of 3 to 5 mm. Is this a case of high-risk pregnancy? Doe... Read Full »
Answer: Hi, Welcome to icliniq.com. How are you doing? Let me put forth few facts. Your age is in normal limits and not in high-risk for anomalies or genetic problem. Only after 37 to 40 years it is high-risk. You do not seem to have any medical complications. You have one 5 year old child, so the cha... 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. For more information consult a... 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 1.2... Read Full »
What should a pregnant woman's hCG value be during the 17th week?
Query: Hi doctor, I am 17 weeks pregnant. As per my quadruple marker screening report, I have 1:283 risk for trisomy 21. My hCG level is coming high in report 130958 mlU/mL. A blood sample is taken at 16 weeks 4 days of gestational age. Please have a look and advise me what to do further. Doctor to whom ... Read Full »
Answer: Hi, Welcome to icliniq.com. Since you have a very low risk, I think you must repeat your beta hCG (human chorionic gonadotropin) levels rather than the amniocentesis. However, if you want to be doubly sure, just go with the suggestion of your doctor. It is always better to get checked. Having gone t... Read Full »