MECHANISM of INFERTILITY AS OPINED BY IVF SPECIALIST IS
The reproductive impairment for men with genetic causes of infertility typically involves the failure to produce sperm the failure of sperm transport i.e. obstruction in the male reproductive tract (vas deferens); and / or the risk of transmission of a genetic disorder to offspring
WHAT ARE THE FAMILY BUILDING OPTIONS IN TEST TUBE BABY CENTRE.
For men with Azoospermia ( no sperm) or low sperm counts (Oligospermia), sperms can be retrieved through aspiration using microsurgical epididymal sperm aspiration (MESA) or testicular sperm extraction (TESE). Fertilization can than be achieved through the use of sperm injection into the oocyte using intracytoplasmic sperm injection (ICSI) during IVF.
Despite these advances, IVF – ICSI does not overcome the basic genetic disorder causing infertility. This means affected mean still have a chromosomal abnormality and consequently, their offspring may be at risk of the some disorder as well.
This couple should be properly informed about Genetic testing as well as prenatal testing like PGD is available in few IVF centre in Delhi.
They should also be counseled about the possibility of transmission of the same defect to their son and how this may impact their son’s fertility. Alternatively, IVF/PGD may be a treatment option for men with Y microdeletion and other chromosomal abnormality to reduce the risk of transmission of the disorder, typically by selecting only normal embryos for transfer
- Klinefelter syndrome : is the most common chromosomal disorder impacting fertility in men.
Incidence is 1 in 1,000 causing impaired spermatogenesis , infertility and azoospermia. Klinefelter syndrome is a chromosomal disorder affecting males born with a karyotype of 47, XXY with symptoms including small testes, absence of sperm, enlarged breast , high levels of FSH, learning disabilities and behavioral problems.
Treatment options a). MESA /TESE – IVF - ICSI )
b). IVF-= PGD
- Microdeletion in Y Chromosome
Several genes have been identified as playing an important role in spermatogenesis. Microdeletion of the Y chromosome , in the region of Y chromosome called AZFa, AZFb and AZFc, cause azoospermia or severe oligospermia in 10 – 20 % cases They do not have any other health or genetic problems.Testing cost 12 thousand rupees.
Family building option:
PGD is a marvelous technique which allow genetically – normal female embryo to be transfered through IVF - PGD technology as it identifies and uses only unaffected embryos.
- CBAVD : This Male is asymptomatic carrier of cystic fibrosis
These men face not only the diagnosis of cystic fibrosis but also the potential risk of transmitting cyctic fibrosis to their offspring. Cystic fibrosis is inherited as an autosomal recessive pattern and thus CF carrier testing should be offered to the female partner to assess the couple’s risk of having a child with either classical or nonclassicle cystic fibrosis. If female partner is also a carrier, couple have a 25.0 % chance of having a child with this genetic disorder ,which is typically a very serious disease and 50% chance of having a child who is also a carrier like parents.
Genetic counseling for these couple involves addressing number of issues.
1. The dual diagnosis of a chronic medical condition (CF) and sterility
2. The risk that other family members may also be at risk for undiagnosed CF
3. The risk of transmitting to offspring if the couple or men decide to use his own sperm.
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