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Rare Disease Forum by Genetidoc Genetic Clinic Forums Genetics in Pregnancy and Fertility Recurrent Pregnancy Loss What genetic causes should be investigated in recurrent pregnancy loss?

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    • #384
      Anonymous
      Moderator

      What genetic causes should be investigated in recurrent pregnancy loss?

    • #390
      Sana Fathima K S
      Keymaster

      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

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