Decision analysis of prenatal testing for chromosomal disorders: what do the preferences of pregnant women tell us?

Genetic Testing
R A HarrisM Kuppermann

Abstract

Current guidelines recommend offering invasive testing for chromosomal disorders only to women who are aged 35 or older, or who are at similarly elevated risk (as determined by maternal serum and/or ultrasonographic screening). We conducted a decision analysis, using preference scores obtained from pregnant women, to determine whether current guidelines maximize the health-related quality of life of these women. If only miscarriage and chromosomal abnormalities are considered, the expected value of testing exceeds that of not testing for women 30 years of age or older. However, if a comprehensive range of relevant testing outcomes is considered, testing offers a higher expected value than not testing, regardless of age. Furthermore, patient preferences for specific testing outcomes play a much more substantial role in determining the course of action with the highest expected value than does the probability of any of the possible testing outcomes. The current age- and risk-based guideline for prenatal diagnosis does not maximize expected value and fails to appropriately consider individual patient preferences. For counseling purposes, how an individual values the presence and timing of fetal chromosomal information should be ca...Continue Reading

References

Sep 1, 1992·Clinical Genetics·H BrandenburgJ W Wladimiroff
Jan 1, 1991·Journal of Clinical Epidemiology·P S Heckerling, M S Verp
Jan 1, 1989·Journal of Clinical Epidemiology·D G Froberg, R L Kane
Apr 1, 1989·Paediatric and Perinatal Epidemiology·R L BryceS M McCormick
Jan 1, 1987·Journal of Chronic Diseases·G W Torrance
Jan 30, 1981·Science·A Tversky, D Kahneman
Apr 21, 1994·The New England Journal of Medicine·J E HaddowP A Boyd
Mar 1, 1993·Prenatal Diagnosis·A M KulievW Holzgreve
Feb 9, 1999·American Journal of Public Health·M KuppermannA E Washington
Aug 19, 1999·Prenatal Diagnosis·M KuppermannA E Washington

❮ Previous
Next ❯

Citations

Jan 31, 2004·Lancet·Ryan A HarrisMiriam Kuppermann
Sep 6, 2008·Human Reproduction Update·M A DurandG Elwyn
Feb 16, 2005·Gynecologic and Obstetric Investigation·Miriam Kuppermann, Mary E Norton
Apr 7, 2017·Obstetrics and Gynecology·Ruth M FarrellMonique Yoder Katsuki
Oct 23, 2003·Medical Decision Making : an International Journal of the Society for Medical Decision Making·Stefan FelderBernt-Peter Robra
Dec 8, 2006·Prenatal Diagnosis·Aaron B CaugheyJames Goldberg
Apr 1, 2006·Expert Review of Pharmacoeconomics & Outcomes Research·Isabelle Durand-Zaleski

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.