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Options after screen positive results

Following a screen positive result, there are several options available to a patient depending on the indication and the gestational age of the pregnancy.  These options include: a referral for genetic counselling, diagnostic testing (chorionic villus sampling and amniocentesis), level II ultrasound, fetal echocardiogram, and/or a referral to a specialist regarding the condition in question.  It is important to present all options available to your patient so that they can make an informed choice about their prenatal options.  The benefits, risks and limitations of each test should be discussed.
Some questions to help stimulate discussion about these options with your patient may include:
  1. In order to find out for sure if your baby has the condition for which they screened positive, diagnostic testing would be needed.  Diagnostic testing carries a small risk of miscarriage.  Is this something that you are comfortable with?
  2. If more testing shows that the baby has the condition, what will you do with that information?  Would you want to continue the pregnancy or would you consider interrupting the pregnancy?  Would you want other specialized health care providers involved?
  3. Would it be helpful for you to know for sure if your baby has the condition prior to the birth for planning purposes?
  4. If you have a child with intellectual and/or physical disabilites, how might this affect your life, your other children, your relationship with your partner and your extended family?