Handbook of Genetic Counseling/Fetal Dilantin-Keppra Syndrome

Fetal Dilantin/Keppra Syndrome

Contracting

• Introductions and small talk
• Acknowledge recent hospitalization
• Confirm referring physician
• Assess understanding of the reason for the referral to genetics
• How much information has your OB given you about the possible effects of taking dilantin/ keppra while pregnant?
• Despite the increased risk of problems, there is a greater than 90% chance that the baby will be just fine.
• What concerns or questions do you have that you would like to discuss today?
• Outline session agenda
  • Medical and family history questions
  • Some of the possible effects that anticonvulsants can have on the pregnancy.
  • Options available to you
  • Discussion of concerns and questions

Elicit Medical History

• Pregnancy/neonatal history:
  • LMP: __________
  • EDC: __________
  • Today's gestational age: __________
  • Have you had an ultrasound?
  • Date of ultrasound: __________
  • Results of ultrasound: __________
  • How has the pregnancy been going so far?
  • Seizures last week….any others
  • What medications are you taking? Dilantin and Kepra
    • Amount and frequency of each. When did you start taking each?
  • When did you begin having seizures?
  • What type of seizures do you typically have?
  • Any complications other than the seizures? Infections, colds, exposures etc. (Review and confirm information from the intake form at Bethesda)

Elicit Family History

(3 generations)

• Anyone with seizure disorders?
• Anyone had: multiple SAB, SB, early deaths or babies that required surgery as infants?
• Anyone born with: birth defects or mental retardation
• Has anyone had early cancers (dx. <50) or chronic illnesses (heart disease, diabetes)

Discuss possible side effects of taking anticonvulsants during pregnancy

• Stress importance of taking medicines- to keep you healthy and therefore the baby healthy
• Although it's very important for you to take these medications, sometimes seizure medications can have some effects on a developing baby.
• All pregnancies are at a 3-5% risk of birth defects and mental retardation
• Women who take anticonvulsants are at a 2-3x increased risk for some specific problems.
• This doesn't mean that the baby will be born with a problem, it just means that we know that based on your special circumstances, your pregnancy is at an increased risk.
• Some of the things that we sometimes see in children who have been exposed to dilantin during pregnancy include:
  • Subtle changes in the face..such as the shape of the eyes and nose. These are usually such subtle features that you might not even recognize them
  • Sometimes we see changes in the length of the fingers (slightly shortened) and the size of the fingernails (tiny)
  • But sometimes children can be born with more apparent changes such as a cleft lip/palate or an open spine.
  • Occasionally we see kids who have some delays in development ranging from borderline normal intelligence to mild mental retardation.
  • There is a small risk of other birth defects dealing with the heart and intestinal tract.
• Keppra: this anticonvulsant hasn't been well studied but we do know that anticonvulsants in general have been associated with an increased risk of birth defects.
• Some children who have been exposed to anticonvulsants during pregnancy have several of these features and some have none. Just based on your history I can't tell you whether or not your baby will have some or none of these features, but we do have some options that we can offer you.

Options

• Level II ultrasound- high resolution to look at the anatomy. ~16 weeks is a good time, but (20+ is ideal).
  • High resolution u/s
  • Done by an experienced technician
  • Better to see more of the developing organs in greater detail
  • Will be looking closely at the features of the baby….spine, heart, brain, shape of the head to make sure that these organs/tissues formed correctly.
  • U/S is good to make us suspicious of some birth defects but it can't tell us everything. We won't know if there is mental deficiency by u/s. Also, u/s is dependent upon cooperation of the baby. Sometimes we just can't get a great view and may not be able to see everything we are looking for.
    • However, a normal ultrasound would certainly be reassuring.

Psychosocial Assessment

• Who is living in your home?
• How are the childcare needs being met?
• Plans for additional children?
• Do you have any financial concerns?

Follow-up

• Questions?
• Registry for patients taking anticonvulsants…
• Do you plan to breast feed the baby? Dilantin is compatible with breast feeding.

Notes

The information in this outline was last updated in 2002.