The original goals of medical genetics and reproductive medicine were to maximize fertility, access appropriate genetic testing, and provide prenatal genetic testing and counseling. There are well-described associations between genetic and reproductive abnormalities, for which genetic testing is now being explored.
With recent advances in genetic screening and a better understanding of the genetic background of certain diseases, genetic evaluation is playing an important role in the work-up of various medical problems, including reproductive failure. Reproductive failure refers to both the inability to conceive (infertility) and the inability to carry a pregnancy successfully to term (spontaneous abortion or recurrent abortion). Embryos that do not carry a full chromosomal component are likely to be lost soon after implantation or do not implant at all. Genetic abnormalities (numerical or structural aberrations) play a role in at least 50% of early pregnancy losses. Karyotyping of the parents is now a routine procedure during the work-up of recurrent abortions. Infertility is another form of reproductive failure, and genetic screening plays an increasingly important role in its evaluation. In vitro fertilization (IVF) provides us with a unique situation in which not only the parents but also the embryo can be screened.
Pregnancy rates are between 35% and 50% following IVF treatment among women younger than 40 years. If pregnancy is not achieved during the first 2 or 3 cycles, genetic testing, when available, should be offered to the couples. This could be useful in those selected cases in which preimplantation genetic diagnosis could identify healthy embryos, possibly improving outcome. In other cases, early genetic testing of couples could identify those for whom the use of donor gametes would be indicated. Now through the assistance of reproductive and genetic medicine, `medical miracles’ allow the detection of genetic disorders through prenatal diagnosis and the ability of infertile individuals to become genetic parents. Referred to as the `new parenthood’, these technologies allow for the conception of genetically exceptional babies by eliminating genetic `defects’ and enhancing desirable qualities as well as the ability of individuals with a genetic disorder to reproduce without transmitting a given disorder. Such technological advances have influenced consumer (and often caregiver) expectations of reproductive medicine and medical genetics that result in unrealistic or misguided anticipations of feasibility, success and applicability of these medical interventions. Furthermore, the ability of reproductive medicine and medical genetics to facilitate the conception of a healthy infant has become fraught with moral dilemmas and technological complications.
Anahita Mohseni Meybodi, PhD
SN Almadani, MD
Kh Anissi Hemaseh, MSc
O Asadpour, MSc
M Bazrgar, PhD student
P Borjian, MSc Student
M Fakhri, MSc
R Habibi, MSc
H Hosseinifar, MSc
H Kalantari, MSc
Z Mansouri, MSc
N Masoodi, MSc student
P Mokhtari, BSc
Sh Zar'i Moradi, MSc
- Investigation for an association of Haplotypes and gene Mutations of USP26 (Ubiquitin Specific Protease 26) with Azoospermia and Oligospermia in Royan Institute patients.
- Investigation for an association of CGG triples repeat alleles of Fragile X gene (FMR1) with ovarian stimulation rates and premature ovarian failure.
- Association of MICA gene polymorphism with Clamydia Trachomatis infection in male infertility in Royan Institute patients.
- Investigation of FMR1 gene expression rate in blood and ovary granulosa cells in patients with to premature ovarian failure.
- Investigation for an association between CAG and GGN triple repeat alleles of the Androgen Receptor gene with different situations of infertility in men.
- Epigenetic patterns and gene expression of FMR1 gene in blood and granulose cells in women with premature ovarian failure.
- Investigation of genetic variation and gene expression of the FSH receptor gene in blood and granulose cells of patients with Premature Ovarian Failure, referred to Royan Institute.