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Genetic counseling: Fetal Dilantin-Keppra Syndrome

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Exposure to Dilantin/Keppra In Utero

ContractingEdit

  • 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? Has he/she suggested any changes to reduce the risk of problems -such as increased folic acid, reducing the number of anticonvulsant medications, etc...
  • 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 HistoryEdit

  • 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 HistoryEdit

(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 pregnancyEdit

  • 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. The medical literature suggests that reducing the number of anticonvulsant medications can decrease the risk.
  • 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.

OptionsEdit

  • 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 AssessmentEdit

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

Follow-upEdit

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

NotesEdit

The information in this outline was last updated in 2002.


This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."
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