Genetic counseling: Multiple Pregnancy Loss

Multiple Pregnancy Loss

Introduction and contracting

 * Acknowledge prior phone contact
 * Did you come up with any questions you would like us to discuss?
 * What do you hope to get from the visit?
 * What is your main concern?
 * Explain that we will be taking a detailed pregnancy and family history to try to help us provide some answers concerning your pregnancy losses
 * We will then have Dr. _________, one of our medical geneticists, come in and we will talk to you and try to answer your questions and explain what we know

Medical History

 * Why were you referred to genetic counseling?
 * Who referred you?
 * Who is your current doctor?
 * How many pregnancies have you had?
 * Confirm when the losses were and what the suspected causes are
 * What were you told you about the pregnancy losses?
 * What types of testing have they done to try to find a reason for the miscarriages?
 * Were you sick at all during the pregnancies?
 * Did you drink, smoke or use drugs?
 * Any medications during the pregnancies
 * Did you take prenatal vitamins?
 * Any concerns about anything you might have been exposed to during any of your pregnancies?
 * Why do you believe you have had the miscarriages?
 * Have you had problems with infertility?
 * What type of infertility work up have you had?
 * What is the next step in the process for you?

Family History

 * Take a family history to see if there are any hereditary diseases that may run in your family that may or may not be related to your history of pregnancy losses
 * Pedigree (ask specifically about)
 * Miscarriages in other family members
 * Infertility
 * Mental retardation/learning difficulties
 * Birth defects
 * Chronic illnesses such as diabetes or heart disease
 * Consanguinity
 * Country where your ancestors came from

Psychosocial assessment

 * How are you handling the pregnancy losses?
 * Have family members or friends been supportive?
 * What do your plans for the future look like?
 * Are you currently working outside the home?
 * What is your occupation?
 * Your husband's occupation?
 * Do you have a religious preference?
 * Are you in touch with a perinatal loss support group?
 * Would you like to be in touch with a support group?
 * Is your insurance covering the testing that has been performed?
 * Are there any other concerns or questions?

Trisomy 16

 * one of most common chromosomal abnormalities
 * affected embryos or fetuses never survive past first trimester
 * is the cause of may first trimester losses
 * explain chromosomes
 * explain nondisjunction
 * reassure her that it is not do to anything she did or did not do
 * once a woman has a child with an identified trisomy the risk of having another child with a trisomy is about 1% (is this what you would quote here) this is usually quoted for Down syndrome and trisomy 18 or 13 because they are viable??????

AMA counseling

 * as women get older their risk of having a fetus or child with a trisomy increases gradually
 * there is no magic age at which the risks become high, but at age 35 the risks of having a child with a chromosomal abnormality become high enough that it makes sense to offer diagnostic testing such as amnio (after 15 wks and CVS 10-12 wks)

Early Pregnancy Loss

 * establishing pregnancy is more difficult than many people realize
 * clinically recognized pregnancy loss occurs in ~15% of pregnancies
 * 40-60% of all conceptions may be lost, but most of these (3/4) are estimated to be lost before it is recognized clinically
 * most miscarriages occur between 6-8 weeks and expulsion between 10-12 weeks
 * after 3 consecutive clinical abortions the risk of aborting next pregnancy is 20-55%

Causes of pregnancy losses
(only chromosome abnormalities and uterine abnormalities are definitively implicated in pregnancy loss)
 * chromosomal abnormalities (most common 70% of first trimester loss)
 * balanced translocation carrier (2.7-4.8% of couples with recurrent losses)
 * trisomies and other chromosomal anomalies
 * Hormonal causes
 * Inadequate luteal phase
 * Deficient progesterone
 * Endometrial factors (endometrial protein expression)
 * Uterine abnormalities
 * septate uterus
 * bicornate uterus
 * uterine myomas or fibroids
 * DES exposure in utero
 * Environmental exposures
 * Alcohol (women who drink 2X's week had sig. higher SA than other women but drinkers also tend to smoke also - possible confounding?)
 * tobacco ( if ½ pack a day or greater and appears to be dose dependent)
 * heavy caffeine intake (moderate intake is not associated with SA)
 * chemical solvent exposure in either sex may increase risk
 * Immune Causes
 * autoimmune problems -- estimated to be cause of multiple SA's in up to 30% of women (woman makes antibodies that will attack her own proteins and those that she has in common with the fetus)
 * anticardiolipin antibodies -- type of a group of antiphospholipid antibodies that may be associated with miscarriage
 * circulating antibodies to cardiolipin and/or inappropriate coagulation parameters, plus poor reproductive outcome, SLE, or spontaneous thrombosis (the antibodies can react with phospholipids that are required for coagulation)
 * SLE - an autoimmune disease thought to be related to SA's (Antichromatin IgG is useful in diagnosing SLE antinuclear antibody testing can indicate many at risk for SLE or some other autoimmune diseases)
 * alloimmune causes -- (response to tissues from another individual of the same species)
 * theory that must recognize fetus as foreign by the HLA and produce blocking antibodies for pregnancy to progress
 * only one of four studies found benefit to leukocyte immunization via paternal leukocyte transfusions
 * Diabetes (controlled or unsuspected is not thought to cause SA)
 * Infection
 * chlamydia trachomatous causes acute and chronic infection of the endometrium which could interfere with implantation (more chlamydia antibodies in women with recurrent SA's but not all studies confirmed this)
 * Mycoplasma hominis and ureaplasma urealyticum (controversy over importance in losses)
 * CMV but suggests this is rare and causation not proven
 * Herpes simplex virus (importance in SA's debated)
 * HIV does not increase rates of loss in asymptomatic women
 * Psychological factors-two studies showed significant reduction in SA among women who have 3 or more SA's when undergoing counseling once per week during pregnancy