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- Introductions and small talk
- Confirm referring physician
- Assess understanding of the reason for the referral to genetics
- 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 lupron can have on the pregnancy
- Options available to you
- Discussion of concerns and questions
Elicit Medical HistoryEdit
- Confirm 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?
- When did you first find out you were pregnant
- What medications are you taking?
- Amount and frequency of each.
- When did you start taking each?
- Do you have any other medical problems?
- Any complications with the pregnancy
Elicit Family HistoryEdit
- Anyone had: multiple SAB, SB, early deaths or babies that required surgery as infants?
- Anyone born with birth defects such as cleft lip or palate, spina bifida, or heart problems
- Has anyone in family had cancer (dx. <50) or chronic illnesses (heart disease, diabetes)
- Anyone with muscle weakness or muscular dystrophy
- Anyone with bleeding disorders
- Anyone with any other genetic disorders such as cystic fibrosis, PKU, etc.
Discuss possible side effects of taking lupron at time of conceptionsEdit
- All pregnancies are at a 3-5% risk of birth defects or mental retardation
- There may be an increase in risks to the fetus when a woman is on lupron at conception.
- HOWEVER, 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 may be at an increased risk for miscarriage or maybe even a birth defect
- The reasons we believe there might be an increased risk are based on a small number of women who were exposed to lupron during pregnancy as well as animal studies
- We can tell you what has been reported, but the numbers are too small to make any real conclusions
- 125 women who were exposed to lupron at the time of pregnancy have been identified and reported as of Feb 2002
- 35 of them miscarried (28%), one was terminated for trisomy 18, three were ectopic pregnancies (2.4%)
- 2 of the 125 infants had congenital anomalies which included bilateral inguinal hernia and other atretic kidney (positive family history for atretic kidney)
- 14 were still ongoing pregnancies and 71 had babies with no malformations or health problems
- 6 children (around age 7) who were exposed to lupron or a similar medication (GnRH agonist).
- 1 had a cleft palate
- 1 had a seizure disorder
- 3 had ADHD
- HOWEVER this is a very small number of children and is not enough to base any conclusions on
- Also, it was unclear how they were defining ADHD because they all had normal psychological tests
- Most of the studies regarding the risks that lupron poses for a pregnancy have been done on rabbits and rats.
- These studies are often not directly related to effects and risks for humans because these animals are different enough that drugs can have a different effect on them when compared to a human fetus.
- Increased fetal mortality and decreased fetal weights in rabbits when given 1/30th and 1/3rd the human dose and for rats at 1/3rd the human dose
- Although not all agree with the interpretation, studies on rabbits suggest that there may be an increase in some birth defects, which include hydrocephalus or vertebral anomalies (dose related at 1/300th, 1/30th and 1/3rd the human dose)
- Rats showed no increase in birth defects
- We therefore don't really have a lot of conclusive information, but the main concern would seem to be an increased risk for pregnancy loss.
- This increase in fetal mortality is likely due to alterations in hormonal levels brought about by the drug (estrogen and progestin levels reduced to levels within the menopausal range)
- Level II ultrasound -- performed at 18 -20 weeks
- Done by an experienced technician
- Can detect many birth defects
- Developing organs will be looked at in detail
- Can often detect abnormalities in the formation of the limbs, spine, heart, and brain
- 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
- But it can usually provide some reassurance to see that organs and body parts have formed properly
Maternal Serum Marker ScreeningEdit
(Unrelated to any risks due to exposure there is a blood test that is routinely offered to all pregnant women)
- MSAFP at about 16-18 weeks
- Screening performed on a sample of your blood
- Can provide an indication that a fetus may be at a higher or lower risk than the general population to have an ONTD, but it will not tell us for certain if there is a neural tube defect
- Detects about 80-90% of ONTD's (so it can miss some)
- Will also tell if fetus is at an increased risk above your age-related risk for a chromosome abnormality
- Blood test can also look at other markers in the blood and determine if there may be an increased risk for two chromosomal abnormalities (for which you are not at an increased risk for based on your history of seizures and medications)
Discuss CF carrier screeningEdit
- Guilt over doing something that may cause birth defects
- Anxiety because we don't know what to expect
- Was this a planned pregnancy and is she excited to be pregnant or was this unexpected
- Any other health concerns or circumstances that would make this a difficult pregnancy
- Assess support system and coping strategies
- Schedule level II ultrasound
- GnRH - agonist - mimicks GnRH, but is more potent
- Considered category X drug (meaning benefits to women don't outweigh potential risk to fetus and it is contraindicated for women who could potentially get pregnant)
- Not known if transfers to human milk, but structure makes this unlikely
- No breast feeding data are available
- Triggers release of LH and FSH (hormones that stimulate ovary in preparation for ovulation)
- First taken then any LH and FSH stored in pituitary is released, but further production and release is blocked
- When LH and FSH blocked, ovarian follicle and egg don't grow and less estrogen produced by ovary
- Initial release of FSH and LH may cause one last cycle before suppressing ovarian activity
- Should therefore use backup protection during the first month of treatment
- Lupron is used in preparation for infertility treatments and when it is used in this fashion before conception there has been no increased risk of fetal anomalies reported to be associated with the infertility treatment.
- Medications and Mother's Milk. 1999. Pharmasoft Medical Publishing.
- Briggs, GG, Freeman, RK, and Yaffe, SJ. Drugs in Pregnancy and Lactation (5th edition). 1998. Williams and Wilkins.
- Reprotox database
- Warning Label that comes with the lupron injection
- Stuart, Ira, and Fox. Human Physiology (4th edition). 1993. Wm. C. Brown Publishers.
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.