An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies

Lorie M. Harper, Amelia L M Sutton, Ryan E Longman, Anthony O. Odibo

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

When congenital anomalies are diagnosed on prenatal ultrasound, the current standard of care is to perform G-banded karyotyping on cultured amniotic cells. Chromosomal microarray (CMA) can detect smaller genomic deletions and duplications than traditional karyotype analysis. CMA is the first-tier test in the postnatal evaluation of children with multiple congenital anomalies. Recent studies have demonstrated the utility of CMA in the prenatal setting and have advocated for widespread implementation of this technology as the preferred test in prenatal diagnosis. However, CMA remains significantly more expensive than karyotype. In this study, we performed an economic analysis of cytogenetic technologies in the prenatal diagnosis of sonographically detected fetal anomalies comparing four strategies: (i) karyotype alone, (ii) CMA alone, (iii) karyotype and CMA, and (iv) karyotype followed by CMA if the karyotype was normal. In a theoretical cohort of 1,000 patients, CMA alone and karyotype followed by CMA if the karyotype was normal identified a similar number of chromosomal abnormalities. In this model, CMA alone was the most cost-effective strategy, although karyotype alone and CMA following a normal karyotype are both acceptable alternatives. This study supports the clinical utility of CMA in the prenatal diagnosis of sonographically detected fetal anomalies.

Original languageEnglish (US)
Pages (from-to)1192-1197
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number5
DOIs
StatePublished - 2014
Externally publishedYes

Fingerprint

Cytogenetic Analysis
Karyotype
Economics
Technology
Prenatal Diagnosis
Karyotyping
Standard of Care
Chromosome Aberrations
Cultured Cells
Costs and Cost Analysis

Keywords

  • Array comparative genomic hybridization (aCGH)
  • Chromosomal microarray (CMA)
  • Congenital anomalies
  • Cost-effectiveness analysis
  • Ultrasonic prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies. / Harper, Lorie M.; Sutton, Amelia L M; Longman, Ryan E; Odibo, Anthony O.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 5, 2014, p. 1192-1197.

Research output: Contribution to journalArticle

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