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Trisomy 21 risk ,double marker values
My wife is 13 week pregnant now. Age 32. Medicine taken for Thyroid. She had undergone a NT scan and double marker test on her 13weeks 2 day. In the NT scan, Nasal bone is visible . She also undergone double marker test on same day. The result came like positive risk cut off for Trisomy 21. Result details below shown :- Trisomy 21 : 1/250 - Positive cut off Nuchal Transculency : 1.3 mm CRL - 71.20mm Free beta hCg 1T : 49 IU/L PAPP-A :3814 mIU/L Is there any risk for trisomy 21 for the above double marker values?
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Hi. Please meet a fetal medicine specialist with these reports. They will guide you on what further investigations you need to get done. They might like to repeat the ultrasound for you. All the best!
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cut off below one has to 250 is supposed to be something suspicious for down syndrome but all the other values which you have specified seems to be normal. If you want to be very sure about the possibility of down syndrome you have to undergo amniocentesis if not you can try and non-invasive procedure called NIPT
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If there is a positive risk for trisomy 21, further testing should be done in the form of non-invasive prenatal testing to confirm the diagnosis and accordingly the course of action should be planned.
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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.