Paediatrician medical geneticist, prof. prim, Paediatris Clinic UH, Gynecology and Obstetrics Private Outpatient Clinic
https://orcid.org/0000-0003-1352-4914
https://doi.org/10.33700/jhrs.2.3.95ABSTRACT
Aim: Spontaneous abortion, early neonatal death and stillbirth are tragic events for the whole family. Sporadic abortion in the general population occurs at 12-15%, before the 12th weeks. The percentage increases with the age of the mother, up to 23%. Successful next pregnancy is the goal.
Methods: In a retrospective analysis from 1985 to 2010, 451 couples with one or more SAs before the 16th week of pregnancy were examined at the Genetic Counselling Unit, Pediatrics Clinics, UH Split.
Results: The highest number of SAs was recorded in the period 8-10th weeks of gestation. Furthermore, 69% of women and 66% of men had a positive family history (especially in a second-generation relative) for SA or sterility. Adverse habits (smoking, alcohol consumption) and exposure to pollutants and / or teratogens (chemicals, exposure to excessive heat or cold) did not affect the incidence of SA. Examination of serological signs (IgM + and EA +) in the presence of reactivation of infection with viruses most commonly revealed reactivation to viruses of the genus herpes viride such as HSV1, CMV and EBV, more often in women. Sideropenia or anemia with very low ferritin values were found in 40% of tested women.
Conclusion: The theory of “two hits” (multifactorial inheritance) is still in the basis of SA. Under these circumstances, it is possible to achieve a normal pregnancy as needed with prenatal or preimplantation diagnostics. If there is a need for assisted fertilisation, the same procedure should be followed.
Keywords: spontaneous abortions (SA), pregnancy loss (RPL), etiology, genetic counselling
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