Handbook of Genetic Counseling/Multiple Pregnancy Loss

From Wikibooks, open books for an open world
Jump to navigation Jump to search

Multiple Pregnancy Loss

Introduction and contracting[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

(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[edit | edit source]

  • 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[edit | edit source]

The information in this outline was last updated in 2002.