# 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.