Indications for appropriate referral to clinical genetics services - referral for prenatal testing

Overview

  • Referral for prenatal genetic testing is appropriate when a pregnancy carries an increased risk of a genetic condition, identified through screening, family history, or ultrasound findings, and the parents wish to know more before or shortly after birth
  • Increasingly common given widespread first-trimester combined screening and non-invasive prenatal testing (NIPT), which identify pregnancies at increased risk of aneuploidy for many pregnancies without a prior family history

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