What genetic causes should be investigated in recurrent pregnancy loss?

[Anonymous]

What genetic causes should be investigated in recurrent pregnancy loss?

[Genetic Counselor]

The genetic workup usually happens in two parts: testing the couple, and testing the pregnancy tissue if a loss occurs.

For the couple:

*Parental karyotyping for both partners, to check for balanced chromosomal rearrangements (such as balanced translocations or inversions) that don’t affect the parent’s health but can cause repeated miscarriages
*Carrier screening for specific inherited conditions if there’s a relevant family history

For the pregnancy tissue (if available):

*Products of Conception (POC) testing, using karyotyping or microarray analysis, to check whether the loss was due to a chromosomal abnormality in the embryo itself

Additional non-genetic tests that are recommended only in certain circumstances include:
*Antiphospholipid antibody testing: only if clinical criteria for antiphospholipid syndrome are met (generally three or more losses, or a personal clotting history)
*Thyroid-stimulating hormone: for patients with risk factors, a euploid (chromosomally normal) miscarriage, or no tissue testing done
*Endometrial biopsy for chronic endometritis, and sperm DNA fragmentation testing: both only when the recurrent pregnancy loss is otherwise unexplained or infertility coexists

[Author]

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