Handbook of 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

References

• Maternal Fetal Medicine. Crese and Resnik.
• Immunology May be Key to Pregnancy Loss. Carolyn Coulam M.D. and Nancy P. Hemenway. 1999. The InterNational Council on Infertility Information Dissemination, Inc.
• Loss During Pregnancy or in the Newborn Period: Principles of Care with Clinical Cases and Analysis. Edited by J.R. Woods, Jr., MD and J.L. Esposito Woods, MBA.1997 Jannetti Publications, Inc Pitman NJ

Notes

The information in this outline was last updated in 2002.