Trisomy

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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What does reverse A wave indicate in Doppler?

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 »


Dr. Megha Tuli Gupta

Obstetrician And Gynaecologist

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 »

Why are dual marker tests and other tests done during pregnancy?

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 »


Dr. Eeshani Dutta

Obstetrician And Gynaecologist

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 »

Am I at risk of having a baby with trisomy?

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 »


Dr. Uzma Arqam

Obstetrician And Gynaecologist

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 »

What is the risk of baby being born with Down's syndrome?

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 »


Dr. Ravinder Kaur Khurana

Family Physician, Obstetrician And Gynaecologist

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 »

Please go through my USG reports and suggest further course of action.

Query: Hello doctor, I am a 23 year old female. I am 19 weeks pregnant. The ultrasonography reports suggest the following:  1. Bilateral 5 mm choroid plexus cyst. 2. A small echogenic intracardiac focus in the left ventricle.  Read Full »


Dr. Deepti Verma

Fetal Medicine Specialist, Obstetrician And Gynaecologist

Answer: Hello, Welcome to icliniq.com. I have gone through your query and understand the concerns. I have reviewed the report (attachment removed to protect patient identity). In this situation, you should go for an amniocentesis for confirmation of the fetal karyotype and to rule out trisomy of 21 or Down...  Read Full »

Does my double marker test result show chances of complications?

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


Dr. Sameer Kumar

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

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 is your opinion about 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

Family Physician, Obstetrician And Gynaecologist, Infertility Specialist

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 »

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