Abstract
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.
Highlights
IntroductionPrenatal screening is an established part of routine antenatal care in developed countries
Prenatal screening is an established part of routine antenatal care in developed countries.The common disorders being screened for include fetal neural tube defects (NTDs) such as anencephaly and spina bifida, chromosomal abnormalities such as the common trisomies, Down, Edwards and Patau syndromes, and structural abnormalities
In some countries there is prenatal screening for single gene disorders such as cystic fibrosis (CF) and fragile X syndrome (FXS), and increasingly some are beginning to screen for maternal conditions such as pre-eclampsia
Summary
Prenatal screening is an established part of routine antenatal care in developed countries. The common disorders being screened for include fetal neural tube defects (NTDs) such as anencephaly and spina bifida, chromosomal abnormalities such as the common trisomies, Down, Edwards and Patau syndromes, and structural abnormalities. In some countries there is prenatal screening for single gene disorders such as cystic fibrosis (CF) and fragile X syndrome (FXS), and increasingly some are beginning to screen for maternal conditions such as pre-eclampsia. Med. 2014, 3 activities make use of markers, which can be maternal, fetal or both, practitioners are not always aware that that is what they are doing. The purpose of this paper is to describe the maternal markers over this range of conditions and show how they can be used optimally
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