BAC Chromosomal Microarray for Prenatal Detection of Chromosome Anomalies in Fetal Ultrasound Anomalies: An Economic Evaluation

作者：Hillman Sarah C; Barton Pelham M; Roberts Tracy E; Maher Eamonn R; McMullan Dominic M; Kilby Mark D^*

来源：Fetal Diagnosis and Therapy, 2014, 36(1): 49-58.

DOI：10.1159/000358387

• Chromosomal microarray
• Fetal anomaly
• Ultrasound
• Economic evaluation

Introduction: To determine the cost-effectiveness of prenatal chromosomal microarray (CMA) when performed for structural anomalies on fetal ultrasound scan over conventional techniques. Method: A decision tree was populated using data from a prospective cohort of women undergoing testing when a fetal ultrasound scan showed a structural abnormality. Nine strategies of testing were modeled including combinations of the tests: QFPCR, G-band karyotyping, CMA and FISH for DiGeorge (22q) microdeletion. Results: When CMA costs GBP 405 and using a 1-Mb BAC array it would cost GBP 24,600 for every additional case detected by CMA over a combination of QFPCR, followed by G-band karyotype, followed lastly by FISH (for DiGeorge syndrome). If CMA is performed instead of conventional karyotyping alone it costs GBP 33,000 for every additional case detected. However, if the cost of CMA is reduced to GBP 360 than when CMA is performed instead of conventional karyotyping alone it would cost GBP 9,768 for every additional case detected. Discussion: The use of a prenatal BAC CMA is not currently cost-effective when compared to other testing strategies. However, as CMA costs decrease and resolution (and detection rates) increase it is likely to become the cost-effective option of the future.

• 出版日期2014