Abstract for presentation at 11th International Congress of Human Genetics

A de novo unbalanced reciprocal translocation raises the question of an increased risk for chromosomal aberrations of ICSI outcomes?

  • Sigrun Sodia, Institute of Medical Biology and Human Genetics, Medical University of Graz, Austria
  • Herbert Juch, Institute of Cell Biology, Histology and Embryology, Medical University of Graz, Austria
  • Hannelore Zierler, Institute of Medical Biology and Human Genetics, Medical University of Graz, Austria
  • Erwin Petek, Institute of Medical Biology and Human Genetics, Medical University of Graz, Austria
  • Werner Emberger, Institute of Medical Biology and Human Genetics, Medical University of Graz, Austria

    • There is an ongoing discussion in the medical community upon the safety of ICSI procedure. We take a de novo unbalanced aberration occurring after ICSI as an example and try to focus on the impact of the existing studies on genetic counselling. ICSI was performed on a 26 year old woman and a 35 year old man due to oligozoospermia. A girl was born in the 38Th week of gestation and showed perinatal respiratory insufficiency,an internal hydrocephalus,muscular hypotonia,flat occiput,minor facial dysmorphic signs as broad nasal bridge,epicanthus,minor micrognathia,deviation of the nasal septum, squamocellular cyst on the soft palate,hyperopia,persistent foramen ovale,persistent left superior vena cava opening of into coronary sinus,peripheric pulmonary stenosis, anal atresia with perianal fistula,haemangioma on the left anterior femoral region and bilateral strephenopodia.The follow up shows a psychomotoric developmental delay.The probandīs karyotype was interpreted after cytogenetic and FISH analysis as a de novo unbalanced reciprocal translocation and described as follows: 46,XX,der(2)t(2;16)(q37.3;q22.1).The unbalanced translocation occurred de novo.The majority of de novo chromosomal aberrations found in ICSI outcomes are numerical sex chromosomal abnormalities or trisomies of the chromosomes 13,18 and 21.A higher as expected incidence of de novo chromosomal aberrations has been found in recent studies, for instance 1,66% in the prospective study of Bonduelle et al. Therefore the overall chromosomal risk of ICSI outcomes is significantly higher than of naturally conceived newborns,even if parental chromosomes are normal.Genetic counselling has to be a integral part of ICSI procedure and should include cytogenetic evaluation of both parents as well as the offer of prenatal diagnosis regardless to maternal age. We try to establish an evidence based, state of the art counselling model based on the results of literature review and practical counselling experience.

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