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Year : 2013  |  Volume : 5  |  Issue : 3  |  Page : 182-190

Prenatal screening methods for aneuploidies


1 Department of Obstetrics and Gynaecology, Armed Forces Medical College (AFMC), Pune, India
2 Department of Obstetrics and Gynaecology, All India Institute of Medical Sciences (AIIMS), New Delhi, India

Correspondence Address:
Madhusudan Dey
40/41, 1st Floor, Monohar Kunj, Gautam Nagar, New Delhi - 110 049
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1947-2714.109180

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Aneuploidies are a major cause of perinatal morbidity and mortality. Therefore, it is the most common indication for invasive prenatal diagnosis. Initially, screening for aneuploidies started with maternal age risk estimation. Later on, serum testing for biochemical markers and ultrasound markers were added. Women detected to be at high-risk for aneuploidies were offered invasive testing. New research is now focusing on non-invasive prenatal testing using cell-free fetal DNA in maternal circulation. The advantage of this technique is the ability to reduce the risk of miscarriage associated with invasive diagnostic procedures. However, this new technique has its own set of technical limitations and ethical issues at present and careful consideration is required before broad implementation


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