Fitting observed and theoretical choices – women's choices about prenatal diagnosis of Down syndrome

Seror, Valérie

doi:10.1002/hec.1276

Cited by 12 publications

(12 citation statements)

References 55 publications

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“…Therefore, dimensions such as woman's values that are challenged by the additional information provided by karyotyping (including the information brought by a normal result), by the unexpected diagnosis of CA, and the anxiety generated by the birth of a child with clinically significant CA that could have been detected by karyotyping should all be considered. 41 …”

Section: Discussionmentioning

confidence: 99%

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

et al. 2010

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In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping.In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down's syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping.

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Section: Discussionmentioning

confidence: 99%

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

et al. 2010

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“…It is therefore mandatory that all pregnant women are properly counseled about prenatal screening (Layng, 1998;Müller et al, 2006;Chervenak et al, 2008;Favre et al, 2008Favre et al, , 2009 and that Health systems provide guidelines to allow parents to make an informed choice regarding first trimester screening (Seror et al, 2008).…”

Section: Before First Trimester Screeningmentioning

confidence: 99%

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

et al. 2010

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Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd.

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“…Economic analysis typically focus on the risks of miscarriage (see e.g. Harris et al, 2004, Seror, 2008. They neglect possible effects on outcomes at birth which may lead to an overestimation of the actual cost-effectiveness of the amniocentesis procedure.…”

Section: Effect Of Amniocentesis On Subsequent Outcomesmentioning

confidence: 99%

The choice of detecting Down syndrome: does money matter?

Garrouste

Maurin

2011

Health Economics

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The prenatal diagnosis of Down syndrome (amniocentesis) presents parents with a complex dilemma which requires comparing the risk of giving birth to an affected child and the risk of losing an unaffected child through amniocentesis-related miscarriage. Building on the specific features of the French Health insurance system, this paper shows that variation in the monetary costs of the diagnosis procedure may have a very significant impact on how parents solve this ethical dilemma. The French institutions make it possible to compare otherwise similar women facing very different reimbursement schemes and we find that eligibility to full reimbursement has a largely positive effect on the probability of taking an amniocentesis test. By contrast, the sole fact of being labelled 'high-risk' by the Health system seems to have, as such, only a modest effect on subsequent choices. Finally, building on available information on post-amniocentesis outcomes, we report new evidence suggesting that amniocentesis increases the risk of premature birth and low weight at birth.

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Fitting observed and theoretical choices – women's choices about prenatal diagnosis of Down syndrome

Cited by 12 publications

References 55 publications

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

The choice of detecting Down syndrome: does money matter?

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