ABSTRACT
Investigation of the embryonic chromosomal status in RPL allows an accurate diagnosis to be reached, affects the patient’s subsequent prognosis and influences the treatment. In clinical practice the patient usually represents in the interval in between pregnancies, and often no information is available about the chromosomal status of previous miscarriages. Lack of information regarding the karyotype leads to inaccurate diagnosis. Embryonic chromosomal aberrations account for between 25% and 60% of recurrent miscarriages.1-5 Dhillon et al.6 have shown in a metaanalysis that chromosomal microarrays can detect an additional 13% of genetic abnormalities in the abortus than can conventional karyotyping. Moreover, embryonic chromosomal aberrations have been found in the presence of other presumptive causes of pregnancy loss. In antiphospholipid syndrome, two series have reported incidences of 20%7 and 40%.2 Carp et al.8 have reported four chromosomal aberrations in patients with hereditary thrombophilias. In a series by Carp et al.,3 trisomies were the most common form of aberration, occuring in 66.7% of chromosomally aberrant embryos, with trisomies 21, 16, and 18 being the most common, followed by monosomy X and triploidies. However, since the publication of that series numerous other aberrations have been seen.
