Chromosomal abnormalities in miscarriages after different assisted reproduction procedures.
About 10-15% of all recognised pregnancies end in spontaneous abortion and around 60% of these show a chromosomal abnormality. The finding of an abnormal karyotype allows one to avoid unnecessary and controversial testing and treatment, providing accurate reproductive and genetic counselling to the couple. Consequently, chromosome study of products of conception (POC) is routinely performed in our Institute, starting from 2002. Cytogenetic analysis on spontaneous metaphases, obtained using direct method, was successfully performed on a total of 277 cases: 133 from patients who underwent assisted reproductive technology (ART) and 144 samples from infertile couples that had natural conceptions (NC). An abnormal karyotype was observed in 84 (63.2%) cases after ART and in 103 (71.5%) after NC demonstrating that the ART group doesn't seem subjected to a higher cytogenetic risk due to the application of technical procedures and higher than the expected risk in the fertile population. Moreover we did not observe a significant difference in the incidence of chromosome anomalies between intracytoplasmic sperm injection (ICSI) (61.5%) and in vitro fertilisation (IVF) (54.5%). However, in the ICSI with testicular sperm extraction (ICSI-TESE) group, 80% of the cases were abnormal with 50% showing triploid/tetraploid karyotypes. Chromosomal abnormalities were present in 54.5% of miscarriages which occurred after ICSI with cryo-preserved oocytes (cryo-ICSI) and in 85.7% after intra-uterine insemination (IUI). To our knowledge this study analysed the largest number of POCs after ART and NC in an infertile population. Moreover, for the first time the cytogenetic results of POC from different ART procedures were included.
Bettio
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Cytogenetic and Medical Genetic Laboratory, Operative Unit of Clinical Investigations, IRCCS Humanitas Clinical Institute, Via Manzoni, 56, 20089 Rozzano, Milan, Italy. daniela.bettio@humanistas.it
Venci
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Levi Setti
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D000022:Abortion, Spontaneous / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations / Q000196:embryology*; D041321:Chromosomes, Human, X; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D009006:Monosomy; D011123:Polyploidy; D011247:Pregnancy; D027724:Reproductive Techniques, Assisted / Q000009:adverse effects; D014314:Trisomy / Q000235:genetics