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Trisomy 21 risk
Hi , My cousin is 14 week pregnant now. She had undergone a NT scan and double marker test on her 13weeks 5 day. In the NT scan, Nasal bone is unknown/not seen. She also undergone double marker test on same day. The result came like positive risk for Trisomy 21. Result details below shown :- Trisomy 21 age risk : 1/1267 Trisomy 21 : 1/215 - Positive Risk Nuchal Transculency : 2.1 mm - 1.02MoM CRL - 76.74mm Free beta hCg 1T : 30.87 IU/L  - 1.02MoM PAPP-A :3427 mIU/L- 0.54 MoM The ultrasound was again done and nasal bone is visualized. Is there any risk for trisomy 21 for the above double marker values?
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Their is a risk of trisomy 21. Get a amniocentesis or cell free dna test for confirmation.
Next Steps
Continue taking folic acid tablets
Health Tips
avoid stress
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You can go for confirmation with amniocentesis
Next Steps
Take amniocentesis test as risk is > 1:250 If risk 1:250 to 1:1000 do a NIPT If risk
Health Tips
Continue iron and calcium supplements Mothers Horlicks two spoons with milk two times a day for a month Avoid papaya and pineapple Avoid lifting weights and stress and intercourses Take a boiled egg daily Drink plenty of water and 3 fruits of your choice daily Listen devotional music and wear bangles to promote hearing in your baby Take small frequent meals Sleep for 2 hours in afternoon and for eight hours at bedtime in left lateral position
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Yes dear there is a risk! 1:250 is cut off for high risk Since your is below it, u have a high risk category It's interpretation is like Out of 215 women having similar risks, there is chnaces that only 1 will have down syndrome,rest 214 will be normal! But since u in high risk, please get evaluated by invasive tests (amniocentesis
Next Steps
consult a fetal medicine expert for further evaluation and treatment
Health Tips
get amniocentesis done! avoid stress and anxiiety don't worry everything gonaa be fine and normal
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Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.