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Prenatal Screening Using Maternal Markers

Department of Obstetrics and Gynecology, Columbia University Medical Center, 662 W 168th Street, PH1666, New York, NY 10032-3725, USA
J. Clin. Med. 2014, 3(2), 504-520;
Received: 24 February 2014 / Revised: 28 March 2014 / Accepted: 28 March 2014 / Published: 9 May 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
PDF [221 KB, uploaded 9 May 2014]


Maternal markers are widely used to screen for fetal neural tube defects (NTDs), chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening. View Full-Text
Keywords: prenatal screening; markers; spina bifida; Down syndrome; pre-eclampsia; fragile X syndrome prenatal screening; markers; spina bifida; Down syndrome; pre-eclampsia; fragile X syndrome
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Cuckle, H. Prenatal Screening Using Maternal Markers. J. Clin. Med. 2014, 3, 504-520.

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