Cauzele genetice ale avortului spontan precoce

Miscarriage is the most frequent complication of the pregnancy, with 10-15% of intrauterine pregnancies being lost before the fetus had reached viability. Genetic factors play a major role in its etiology, different mechanisms accounting for the death of the conceptus at different gestational stages. Aneuploidies represent the majority of the genetic defects found in abortuses; among these, trisomy 16, monosomy X, and triploidy/polyploidy are the most frequent. Microarray technology detects an additional 5% of chromosome aberrations in comparison to the conventional karyotype. Using microarray and karyotyping to analyze the conceptus provides more information and facilitates the risk assessment to guide the next pregnancies. Parents carriers of balanced chromosomal aberrations are predisposed to recurrent abortions more than those with normal karyotypes. The management of pregnancy and reproduction of couples with fertility problems must include the investigation of genetic constitution of the conceptus.