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International Journal of Clinical Medicine Research

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Screening Options and Role of Biochemical Markers in the Risk Assessment of Down Syndrome, Trisomy 18, and Neural Tube Defects

International Journal of Clinical Medicine Research
Vol.5 , No. 4, Publication Date: Jun. 13, 2018, Page: 90-96

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Authors

[1]	Iyyapu Krishna Mohan, Department of Biochemistry, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad, India.
[2]	Siraj Ahmed Khan, Department of Biochemistry, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad, India.
[3]	Rachel Jacob, Department of Biochemistry, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad, India.
[4]	Madrol Vijaya Bhasker, Department of Biochemistry, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad, India.
[5]	Kompella Sri Satya Sai Baba, Department of Biochemistry, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad, India.

Abstract

Prenatal screening to identify genetic disorders gaining importance for the past few years. The goal of present maternal serum screening programs is to identify women at increased risk of having a baby affected with Down syndrome, trisomy 18 or neural tube defects and that will benefit from diagnostic testing. The ultimate goal is to have fewer invasive procedures as well as fewer procedure related losses of normal fetuses. The options available are first trimester, second trimester, and sequential screening. When a woman at high-risk or with a positive screen is identified, genetic counseling and a diagnostic procedure such a chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester is offered to determine if the fetus has the genetic defect. The first trimester screening (Double marker) which has a detection rate slightly higher than second trimester (Triple marker) and results will be available early in the pregnancy. If a woman wants to know her risk with highest detection rate, the combination of first and second trimester screening in a sequential manner should be the test of choice. In this review, we highlighted the options available for screening, detection rate, benefits and limitations of the test and hope this will provide useful information for physicians order such screening.

Keywords

Screening Options, Risk Assessment, Biochemical Markers, Down Syndrome, Trisomy 18, Neural Tube Defects

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