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Pregnancy Loss Genetic Evaluation

What is a miscarriage?
A miscarriage occurs when a recognized pregnancy fails to progress, resulting in loss of the pregnancy.  This can include spontaneous pregnancy losses, or missed abortions, in which the loss of a viable pregnancy is discovered some time after the fetus stopped growing.  Pregnancy losses are very common, with up to of 15% of recognized pregnancies resulting in a miscarriage, usually in the first trimester.   Many couples are very interested in seeking an explanation for a pregnancy loss. 

What are the common causes of miscarriages?
Common genetic causes of reproductive losses include:

  • chromosomal abnormalities in the fetus, including aneuploidy
  • chromosomal imbalance in the fetus due to a parent with a balanced chromosomal translocation
  • genetic syndromes in the fetus
  • a predisposition towards blood clotting in the mother (thrombophilia)
  • Testing is available to study some of the common causes of pregnancy loss.

What are common chromosome abnormalities?
Chromosomal abnormalities account for a significant proportion of fetal wastage, with approximately 60% of spontaneous abortions, 7% of stillbirths, and 1% of neonatal deaths being caused by a chromosome abnormality.  Chromosomes are the actual pieces of inherited material passed from both parents to the child.  If too many or too few chromsosomes are passed down to the child, the pregnancy will typically be lost as a miscarriage.  A chromosome analysis is required to identify any chromosome abnormality as the cause of a miscarriage or stillbirth.  When too many or too few chromosomes are passed down to the child, there is usually no history of these problems in the family, and there is not a high risk of a chromosome abnormality existing in the parents.

Are there some chromosome abnormalities that are inherited?
Yes.  Couples who have a history of repeated pregnancy loss are at an increased risk of carrying an additional chromosomal abnormality: a chromosomal translocation.   A carrier of a balanced translocation is completely normal, however may contribute unbalanced products to a pregnancy, resulting in repeated miscarriages or infertility. 

Chromosome analysis in couples experiencing two or more reproductive losses show that for about 6% of couples, one parent is a carrier of a chromosome translocation.   Identifying a translocation carrier helps 1) determine the likely cause of the previous losses, 2) identifies the carrier's risk of having a reproductive loss; a live born unaffected or an affected baby with future pregnancies, and 3) identify other members of the family who may also be carriers of the translocation.

What is Thrombophilia?
Thrombophilia refers to the excessive tendency to clot blood.  During a pregnancy, this can result in an interrupted blood supply to the growing fetus, and result in a pregnancy loss or a poor pregnancy outcome.  Most women do not know that they may have this tendency prior to experiencing a pregnancy loss, thus screening of all women with multiple pregnancy losses is indicated.  Some of the reasons for thrombophilia can be due to either ongoing or temporary imbalances in an immune status, inherited deficiencies of proteins used to maintain the balance between bleeding and blood clotting, or deficiencies of proteins which decrease the tendency to clot.  A large panel of tests are frequently run, depending on the exact problems being experienced and other factor in a woman's family history.

Who should consider genetic testing for pregnancy losses?
Complete genetic services are provided for couples who experience reproductive losses.  Most couples who have experiences two or more miscarriages are at increased risk of either partner being a carrier of a balanced chromosome rearrangement.  In addition, these additional tests are typically ordered. 

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