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N Am J Med Sci. 2013 Mar;5(3):182-90. doi: 10.4103/1947-2714.109180.

Prenatal screening methods for aneuploidies.

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  • 1Department of Obstetrics and Gynaecology, Armed Forces Medical College (AFMC), Pune, India.

Abstract

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.

KEYWORDS:

Biochemical screening; Cell-free fetal DNA; Non-invasive prenatal testing; Prenatal diagnosis; Trisomy

PMID:
23626953
[PubMed]
PMCID:
PMC3632021
Free PMC Article
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