Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.
BMJ Open
; 13(8): e069485, 2023 08 30.
Article
de En
| MEDLINE
| ID: mdl-37648381
ABSTRACT
OBJECTIVES:
To determine the cost-effectiveness of the addition of chromosomal anomalies detectable by non-invasive prenatal screening (NIPS), in a prenatal screening programme targeting common aneuploidies. DESIGN, SETTING ANDPARTICIPANTS:
A simulation study was conducted to study the addition of chromosomal anomalies detectable by NIPS (sex chromosome aneuploidies, 22q11.2 deletion syndrome, large deletion/duplication >7 Mb and rare autosomal trisomies) to five basic strategies currently aiming the common trisomies three strategies currently offered by the public healthcare systems in Canada, whose first-tier test is performed with biochemical markers, and two programmes whose first-tier test consists of NIPS-based methods. OUTCOMEMEASURES:
The total number of cases of chromosomal anomalies detected and the costs related to the consumption of medical services.RESULTS:
The most effective and the most cost-effective option in almost all prenatal screening strategies is the option that includes all targeted additional conditions. In the strategies where NIPS is used as first-tier testing, the cost per additional case detected by adding all possible additional anomalies to a programme that currently targets only common trisomies is $C25 710 (95% CI $C25 489 to $C25 934) for massively parallel shotgun sequencing and $C57 711 (95% CI $C57 141 to $C58 292) for targeted massively parallel sequencing, respectively. The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.CONCLUSION:
From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Trisomie
/
Évaluation du Coût-Efficacité
Type d'étude:
Diagnostic_studies
/
Health_economic_evaluation
/
Screening_studies
Aspects:
Ethics
/
Patient_preference
Limites:
Female
/
Humans
/
Pregnancy
Pays/Région comme sujet:
America do norte
Langue:
En
Journal:
BMJ Open
Année:
2023
Type de document:
Article
Pays d'affiliation:
Canada