Preimplantation Genetic Diagnosis (PGD)
Pre-Implantation genetic testing is a technique, used to identify genetic defects in the embryo, created through IVF before pregnancy. PGD (Pre Implantation Genetic Diagnosis)refers to when one or both genetic parents, have a known genetic abnormality and testing is performed on an Embryo to determine, if it also carries a genetic abnormality. In contrast, PGS (Pre Genetic Screening)refers to techniques where embryo from presumed chromosomally normal genetic parent are screened for genetic abnormality.
Because only unaffected embryos are transferred to the uterus for Implantation, PGD (Pre Implantation Genetic Diagnosis) provides an alternative to current post conception diagnostic procedures(amniocentesis or chronic villus sampling) which are frequently followed by the difficult decision of pregnancy termination,if results are unfavorable. PGD (Pre Implantation Genetic Diagnosis)and PGS(Pre Genetic Screening) are presently the only options available for avoiding a high risk of having a child affected with genetic disease prior to implantation. It is an attractive of preventing heritable genetic disease, thereby eliminating pregnancy termination, following unfavorable prenatal diagnosis.
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PGT involves Assisted Reproductive Technology. In the usual manner, Oocyte pick up and fertilization were done. Once the embryo reached morulae stage (Day 2 to 3) or blastocyst stage (Day 5 to 6) and all the embryo’s were named,and embryonic cells were biopsied using Assisted Hatching and micro manipulator. All embryo’s were frozen. Biopsied embryomic cells were sent to genetic lab for the diagnosis of genetic abnormality using PCR(Polymerase chain reaction) or FISH(Fluorescence in situ Hybridization)technique.
Once the result comes back, genetically normal embryos were transferred to the uterus. In PGD (Pre Implantation Genetic Diagnosis)and PGS (Pre Genetic Screening) unaffected embryos were only transferred to the uterus.
Indication for PGD(Pre Implantation Genetic Diagnosis)
- Family H/o X linked disorders.
- Couples with chromosomal translation which can cause RIF(Recurrent Implantation Failure), RPL(Recurrent Pregnacy Loss), mental, physical problems in offspring
- Carriers of autosomal recessive disease.
- Carriers of autosomal Dominent disease.
- Single gene defects.
Indication for PGS(Pre Genetic Screening)
- Aneuploidy screening women with advanced age.
- Couples with H/o RPL (Recurrent Implantation Failure), Recurrent Pregnancy Loss,caused by balanced translocation.
- Couples with repeated IVF failures.
- Aneuploidy screening for severe male factor infertility.
In our hospital these techniques were done with affordable cost.