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Lucy’s pregnancy

The case continues with Lucy, a potential carrier of Cystic Fibrosis, returning after a positive pregnancy test.
© Wellcome Genome Campus Advanced Courses and Scientific Conferences
Lucy returns to see you 6 months later. Lucy and Lee didn’t attend their appointment with clinical genetics and haven’t had CF carrier testing. Lucy tells you she missed her last period and did a pregnancy test a week ago which was positive. She is wondering what she should do now and is worried about the risk of having a child with CF.
What would you do?
You establish her likely gestation based on her LMP as being 7 weeks. You revisit the previous conversation you had about the risk of CF, and arrange an urgent referral to clinical genetics for testing. You also give Lucy the standard pregnancy advice: diet, lifestyle, medication, folic acid and advise her to arrange with reception to book with the midwife.

The key point here is to find out Lucy and Lee’s carrier status. Prenatal testing can then be offered if they are both found to be carriers.

© Wellcome Genome Campus Advanced Courses and Scientific Conferences
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Genomic Scenarios in Primary Care

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