Article
Licensed
Unlicensed
Requires Authentication
Prenatal screening for trisomy 21: recent advances and guidelines
-
Jacob Canick
Published/Copyright:
July 27, 2011
Abstract
The performance of prenatal screening tests for the identification of trisomy 21 (Down syndrome) has markedly improved since the 1970s and early 1980s when maternal age was the sole mode of screening the general pregnant population. With the discovery of second trimester serum markers in the 1980s and 1990s and implementation of double, triple, and quad marker testing; the discovery of first trimester serum and ultrasound markers in the 1990s and implementation of the combined test; and the development of the integrated test and sequential screening strategies over the past decade, the performance of screening has improved to a detection rate of 90%–95% at a false positive rate of 2%–5%. In this review, I will describe the advances in prenatal screening for trisomy 21, present current screening strategies, and discuss guidelines published by professional societies and regulatory bodies, with a focus on current prenatal screening practice in the USA.
Received: 2011-4-22
Accepted: 2011-6-20
Published Online: 2011-07-27
Published in Print: 2012-06-01
©2012 by Walter de Gruyter Berlin Boston
You are currently not able to access this content.
You are currently not able to access this content.
Articles in the same Issue
- Masthead
- Masthead
- Editorial
- Laboratory maternal-fetal medicine: challenges and perspectives
- Reviews
- Candidate biochemical markers for screening of pre-eclampsia in early pregnancy
- Linking preeclampsia and cardiovascular disease later in life
- Mini Reviews
- Fetal nucleic acids in maternal blood: the promises
- Ethical aspects of the expansion of neonatal screening programme due to technological advances
- Prenatal screening for trisomy 21: recent advances and guidelines
- Ultrasound markers for the detection of women at risk of developing pre-eclampsia
- Are biological markers relevant for the diagnosis and the prognosis of preterm premature rupture of membranes (PPROM)?
- Genetics and Molecular Diagnostics
- Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations
- Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis
- Unlabeled-probe high-resolution melting to detect KRAS codon 12 and 13 mutations in pancreatic adenocarcinoma tissues
- General Clinical Chemistry and Laboratory Medicine
- Volume, rates, source and types of add-on pathology test requests across five hospitals
- Schizophrenia is associated with increased levels of serum Fas and FasL
- Comparison between capillary, venous and arterial levels of protein S100B in patients with severe brain pathology
- Changes of serum adiponectin and soluble intercellular adhesion molecule-1 concentrations after smoking cessation
- Lack of consistency between two commercial ELISAs and against an in-house ELISA for the detection of CD36 in human plasma
- Comparison of a commercial urinary neopterin radioimmunoassay with high performance liquid chromatography
- Evaluation of Prevent ID and Quantum Blue rapid tests for fecal calprotectin
- Analytical performance evaluation of four cartridge-type blood gas analyzers
- Cancer Diagnostics
- Serum free light chains and oligoclonal bands in patients with multiple myeloma and autologous stem cell transplantation
- Cardiovascular Diseases
- Homocysteine as a determinant of left ventricular ejection fraction in patients with diabetes
- Plasma total homocysteine is a determinant of carotid intima-media thickness and circulating endothelial progenitor cells in patients with newly diagnosed hypertension
- Serum MMP-9 and TIMP-1 concentrations and MMP-9 activity during surgery-induced inflammation in humans
- Effects of endothelin-1 on endothelial progenitor cell function
- Investigation of cystatin C and cystatin C based estimated glomerular filtration rate in pregnant patients with heart failure
- Letters to the Editor
- Comments on a performance evaluation of cartridge-type blood gas analyzers
- Comments on a performance evaluation of cartridge-type blood gas analyzers. Reply
- Carryover can be a cause of false-positive results with the Beckman AccuTnI assay
- Method comparison of a 25-hydroxy vitamin D enzyme immunoassay to liquid chromatography tandem mass spectroscopy
- Bone marrow plasma cell separation – validation of separation algorithm
- Sharing our experience in improving postgraduate clinical biochemistry training with laboratory practice articles
Articles in the same Issue
- Masthead
- Masthead
- Editorial
- Laboratory maternal-fetal medicine: challenges and perspectives
- Reviews
- Candidate biochemical markers for screening of pre-eclampsia in early pregnancy
- Linking preeclampsia and cardiovascular disease later in life
- Mini Reviews
- Fetal nucleic acids in maternal blood: the promises
- Ethical aspects of the expansion of neonatal screening programme due to technological advances
- Prenatal screening for trisomy 21: recent advances and guidelines
- Ultrasound markers for the detection of women at risk of developing pre-eclampsia
- Are biological markers relevant for the diagnosis and the prognosis of preterm premature rupture of membranes (PPROM)?
- Genetics and Molecular Diagnostics
- Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations
- Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneration using high-resolution melting analysis
- Unlabeled-probe high-resolution melting to detect KRAS codon 12 and 13 mutations in pancreatic adenocarcinoma tissues
- General Clinical Chemistry and Laboratory Medicine
- Volume, rates, source and types of add-on pathology test requests across five hospitals
- Schizophrenia is associated with increased levels of serum Fas and FasL
- Comparison between capillary, venous and arterial levels of protein S100B in patients with severe brain pathology
- Changes of serum adiponectin and soluble intercellular adhesion molecule-1 concentrations after smoking cessation
- Lack of consistency between two commercial ELISAs and against an in-house ELISA for the detection of CD36 in human plasma
- Comparison of a commercial urinary neopterin radioimmunoassay with high performance liquid chromatography
- Evaluation of Prevent ID and Quantum Blue rapid tests for fecal calprotectin
- Analytical performance evaluation of four cartridge-type blood gas analyzers
- Cancer Diagnostics
- Serum free light chains and oligoclonal bands in patients with multiple myeloma and autologous stem cell transplantation
- Cardiovascular Diseases
- Homocysteine as a determinant of left ventricular ejection fraction in patients with diabetes
- Plasma total homocysteine is a determinant of carotid intima-media thickness and circulating endothelial progenitor cells in patients with newly diagnosed hypertension
- Serum MMP-9 and TIMP-1 concentrations and MMP-9 activity during surgery-induced inflammation in humans
- Effects of endothelin-1 on endothelial progenitor cell function
- Investigation of cystatin C and cystatin C based estimated glomerular filtration rate in pregnant patients with heart failure
- Letters to the Editor
- Comments on a performance evaluation of cartridge-type blood gas analyzers
- Comments on a performance evaluation of cartridge-type blood gas analyzers. Reply
- Carryover can be a cause of false-positive results with the Beckman AccuTnI assay
- Method comparison of a 25-hydroxy vitamin D enzyme immunoassay to liquid chromatography tandem mass spectroscopy
- Bone marrow plasma cell separation – validation of separation algorithm
- Sharing our experience in improving postgraduate clinical biochemistry training with laboratory practice articles
