Clinical experience with multigene carrier panels in the reproductive setting

Catherine Terhaar, Nicole Teed, Rachel Allen, Lindsay Dohany, Christina Settler, Carol Holland, Ryan E Longman

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Objectives: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. Methods: We reviewed outcomes for 3 multigene carrier screening panels: trio (3 diseases), standard (23 diseases), and global (218 diseases). All panels used targeted genotype analysis of preselected mutations via next-generation sequencing. We calculated positivity rates for each panel. Results: Positivity rates were 7.2% for Preparent Trio, 13.2% for Preparent Standard, and 35.8% for Preparent Global. The most frequent positive results in the global panel were (in descending order): abnormal hemoglobin electrophoresis, familial Mediterranean fever, cystic fibrosis, fragile X, glucose-6-phosphate dehydrogenase deficiency, alpha-thalassemia, and nonsyndromic hearing loss. Conclusions: While genetic diseases are individually rare, they are cumulatively common. Our experience illustrates that, with a panel of 218 diseases, the likelihood of identifying a carrier can be as high as 36%. Understanding panel positivity rates is one important factor for providers when choosing the right test for their practice, setting appropriate expectations for patients, and planning for follow-up counseling.

Original languageEnglish (US)
Pages (from-to)572-577
Number of pages6
JournalPrenatal Diagnosis
Volume38
Issue number8
DOIs
StatePublished - Jul 1 2018

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Abnormal Hemoglobins
Glucosephosphate Dehydrogenase Deficiency
Familial Mediterranean Fever
alpha-Thalassemia
Inborn Genetic Diseases
Gynecology
Cystic Fibrosis
Obstetrics
Electrophoresis
Counseling
Genotype
Mutation
Nonsyndromic Deafness

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

Cite this

Terhaar, C., Teed, N., Allen, R., Dohany, L., Settler, C., Holland, C., & Longman, R. E. (2018). Clinical experience with multigene carrier panels in the reproductive setting. Prenatal Diagnosis, 38(8), 572-577. https://doi.org/10.1002/pd.5272

Clinical experience with multigene carrier panels in the reproductive setting. / Terhaar, Catherine; Teed, Nicole; Allen, Rachel; Dohany, Lindsay; Settler, Christina; Holland, Carol; Longman, Ryan E.

In: Prenatal Diagnosis, Vol. 38, No. 8, 01.07.2018, p. 572-577.

Research output: Contribution to journalArticle

Terhaar, C, Teed, N, Allen, R, Dohany, L, Settler, C, Holland, C & Longman, RE 2018, 'Clinical experience with multigene carrier panels in the reproductive setting', Prenatal Diagnosis, vol. 38, no. 8, pp. 572-577. https://doi.org/10.1002/pd.5272
Terhaar C, Teed N, Allen R, Dohany L, Settler C, Holland C et al. Clinical experience with multigene carrier panels in the reproductive setting. Prenatal Diagnosis. 2018 Jul 1;38(8):572-577. https://doi.org/10.1002/pd.5272
Terhaar, Catherine ; Teed, Nicole ; Allen, Rachel ; Dohany, Lindsay ; Settler, Christina ; Holland, Carol ; Longman, Ryan E. / Clinical experience with multigene carrier panels in the reproductive setting. In: Prenatal Diagnosis. 2018 ; Vol. 38, No. 8. pp. 572-577.
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