Trisomy is a genetic condition where there is an additional chromosome, and such people have 57 chromosomes instead of 46. It is not an inherited disorder, but this is a disorder that is caused due to improper egg maturation. Trisomy 21 results in Down syndrome, Trisomy 18 is known as Edwards syndrome, and trisomy 13 is known as Patau syndrome.
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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 »
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 »
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 »
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 »
Query: Hi doctor, I am pregnant with MCMA twins. We have been told that one twin has a reversed A wave. What possible outcomes can this have for the twin? Please explain. Thanks. Read Full »
Answer: Hi, Welcome to icliniq.com. I went through your query and I totally understand your situation. A reversed A wave in Doppler is associated with very high chance of trisomy in the baby. The genetic abnormalities associated with this maybe even fatal. Since monochorionic monoamniotic twins (M... Read Full »
Query: Hello doctor, I am 12 weeks pregnant. My age is 38. My doctor prescribed dual marker test. My PAPP-A report is 1.88 mIU/ml, while FB-hCG is 28.2 ng/ml. NT is 0.90 mm (.65 MoM). Biochem risk +NT is 1:4730, age risk 1:189, trisomy 13/18 + NT is < 1:10000. I am worried about my reports, whether it ... Read Full »
Answer: Hi, Welcome to icliniq.com. Heartiest congratulations for your second pregnancy. Well, there is a generalized increased risk with increased age of mother. You are above 35 years, so considering it as an elderly pregnancy, increased surveillance for congenital or chromosomal abnormalities in the ba... Read Full »
Query: Hi doctor, I am 28 years old. I am 23 weeks and three days pregnant now. My first-trimester scan was normal. My anomaly scan was done at 20 weeks six days was fine. My quad test alone is abnormal with raised beta hCG value of 6.54 mIU/mL. Am I at risk of having a baby with trisomy 1? Is it common... Read Full »
Answer: Hi, Welcome to icliniq.com. It would be better if you send me your detailed history regarding previous menstrual, obstetrics, gynecology, medical and drug history. Your age is less risky to have genital anomalies as you are too young. Trisomies are more likely to occur in advanced maternal age. Fa... Read Full »
Query: Hello doctor,My wife underwent double marker test. Results are as follows. Please tell me if there is any risk factor regarding the pregnancy. Her age is 31 years. PAPP-A : 0.35 MoM, fb-hCG 2.14 MoM, age risk 1:743, biochemical T21 risk 1:54, combined trisomy 21 risk 1:226, trisomy 13/18 + NT. Read Full »
Answer: Hello, Welcome to icliniq.com. Yes, there is a risk of the baby being born with Down's syndrome. To confirm it, there is a test called chorionic villus sampling where the sample of the placenta is taken and chromosomal analysis is done to rule out trisomy 21, 18, and 13, that is abnormal chromosom... Read Full »