Development of prenatal screening—A historical overview

• Published in: Seminars in perinatology Vol. 40; no. 1; pp. 12 - 22
• Main Authors: Cuckle, Howard, DPhil, Maymon, Ron, MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2016
• Subjects: Anti-Inflammatory Agents, Non-Steroidal - therapeutic use; Aspirin - therapeutic use; Biomarkers - blood; Cell-Free System; DNA - blood; Down syndrome; Down Syndrome - diagnosis; Female; Fragile X syndrome; Fragile X Syndrome - diagnosis; Heart Defects, Congenital - diagnosis; History, 20th Century; History, 21st Century; Humans; Markers; Neonatal and Perinatal Medicine; Neural Tube Defects - diagnosis; Pre-eclampsia; Pre-Eclampsia - diagnosis; Pre-Eclampsia - prevention & control; Pregnancy; Prenatal Diagnosis - history; Prenatal screening; Spina bifida; Ultrasonography, Prenatal - history; Spina bifida; Prenatal screening; Down syndrome; Pre-eclampsia; Fragile X syndrome; Markers
• ISSN: 0146-0005; 1558-075X
• DOI: 10.1053/j.semperi.2015.11.003

Abstract The first prenatal screening test to be introduced was based on a single maternal serum marker of neural tube defects. Since then various prenatal screening concepts have been developed, the most successful being Down syndrome risk estimation using multiple serum and ultrasound markers. Today a completely new approach to aneuploidy screening is available based on maternal plasma cell-free DNA testing. This has the potential to markedly improve screening performance but routine testing is currently too expensive in a public health setting. However, it can be cost-effective when used in combination with existing multi-maker tests. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia that can be prevented using soluble low-dose aspirin treatment started before 16 weeks of gestation. Prenatal screening for cardiac abnormalities, fragile X syndrome and recessive genetic disorders is underutilized and public health planners should considered a more widespread application of available methods.