Abstract
Several important developments have been made in prenatal screening and diagnosis
of serious fetal abnormalities, and prevention of common adverse pregnancy outcomes.
However, full implementation is not cost-neutral and in localities with limited resources,
compromises are needed. This review considers options for maternal plasma cell free
DNA (cfDNA); prenatal microarray analysis; and multi-marker screening for preeclampsia
(PE). Although not new, use of first trimester nuchal translucency and additional
ultrasound markers is also considered as this is not routinely available in many limited
resource localities. In order to benefit from recent advances in prenatal screening,
even in adequately resourced localities, public health decision-makers have to make
difficult choices. Options include: secondary and contingent cfDNA screening following
a positive conventional test, microarray only when there are ultrasound indications,
first trimester PE and screening using biochemistry alone, ideally with additional
serum markers.
Keywords
cfDNA - Screening - CVS - Amniocentesis - Microarray - aCGH - Down syndrome - Preeclampsia
- Markers - Spina bifida
