Abstract
Mary Lombardi was 32 years old, of Italian descent, and pregnant for the first time. There was no history of cystic fibrosis (CF) in her family or in her husband’s family. As recommended by the American College of Obstetricians and Gynecologists [1], her physician offered her CF carrier screening at her first prenatal visit. She tested negative for the mutations analyzed. The mutation panel ordered for Mary’s carrier screen had a detection rate of 93% in Caucasians. After testing, Mary’s risk to be a carrier of CF was reduced from 1/25 (4%) to 1/343 (0.3%), based on the negative result, her ethnicity, and the negative family history. Mary’s husband, Martin Lombardi, was not screened for CF mutations, based on Mary’s negative result and his negative family history. Although some physicians offer couples-based tested initially, a typical approach is maternal testing followed by assessment of need for paternal testing based on the maternal result. At 16 weeks gestation, prenatal ultrasound identified an echogenic bowel abnormality.
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© 2011 Springer-Verlag Berlin Heidelberg
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Heim, R.A. (2011). Cystic Fibrosis. In: Schrijver, I. (eds) Diagnostic Molecular Pathology in Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-19677-5_1
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DOI: https://doi.org/10.1007/978-3-642-19677-5_1
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