Inm-8: Assisted Reproductive Technologies and Genetics

Genetic causes have a considerable involvement in infertility. Well-known examples are some chromosomal translocations or sex-chromosomal abnormalities and Y-chromosome deletions. The most common chromosomal aberrations associated especially with severe oligo- and azoospermia are sex chromosome aneuploidies and chromosomal translocations. Consequently, occurrence of aneuploid embryos will lower the success rate of the IVF treatment, and offspring have a risk of an unbalanced translocation or an aneuploidy. Advanced maternal age has increased sporadic chromosomal anomalies with conception. Special consideration is needed when treating infertile men, since infertility may be caused by abnormalities that may cause infertility and/or potential serious diseases to the offspring. Also, a number of causes behind female infertility may lie in chromosomal aberrations and gene mutations. The possibility of single or multiple gene defects in common clinical conditions, such as polycystic ovarian syndrome, or premature ovarian failure, has been described. A woman's age and her supply of eggs all contribute to the success rate — but additional genetic factors are also thought important. In addition, other genetic causes like mutations in LH and FSH receptor genes as well as structural abnormalities of the female genital organs may cause female infertility. There are a number of reports on adverse outcomes in children born as the result of ART. Numerically, multiple gestations are clearly the major risk to the future child’s health. There is also a growing concern for structural anomalies and long-term health effects.Genetics is expanding into the domains of national screening program, disease prediction and pharmacogenetics means that a growing range of health professionals, including midwives need skills and knowledge in genetics in order to take on new roles. Specialist genetic services would also benefit from midwives having sufficient skills to understand the processes of genetic counseling, which would enable them to discuss the decision to undertake a test, help women to cope with the result and minimize its effects on the family. Educational provision on genetics for midwives is insufficient and has not been coherently planned. Counseling is an essential part of all the treatments. Genetic counseling is a communication process that deals with the occurrence, or risk of occurrence, of a genetic disorder in the family. Counseling session should be characterized by openness for discussion. The counselor should give the couple a general understanding of the principles of ART (e.g., ovarian stimulation and IVF/ICS and potential risks). It might be considered advantageous to be able to perform genetic counseling and offer a selection of genetic tests before all IVF treatments, because many genetic causes of infertility still remain unrecognized.