PGT is a primary diagnostic tool to prevent any known genetic disorder transmission.
Preimplantation genetic testing (PGT) allows the transfer of genetically normal embryos. Dr Parul Agarwal, Director – IVF and Fertility at Cloudnine Group of Hospitals, Noida, shares that this technology has become integral to Assisted Reproductive Technology (ART) procedures.
WHO ARE THE GOOD CANDIDATES FOR PGT?
- Couples with a previous pregnancy or children with an inherited genetic disorder.
- Women who have had two or more miscarriages due to chromosomal abnormalities.
- Women who have experienced previously failed embryo implantation
- Women diagnosed with unexplained infertility.
METHODOLOGY
- The first step is an embryo biopsy.
- In both forms of testing, the biopsy is at the blastocyst (day five or day 6 of embryo culture) stage of development.
- TE allows the placenta and inner cell mass (ICM) to develop, which later develops into the baby.
- Results are usually available within 10 -14 days following the biopsy.
Preimplantation genetic testing can be of three types: PGT-A, PGT-M, and PGT-SR
PGT-A stands for preimplantation genetic testing for detecting aneuploidy
- PGT-A analyses embryo cells to determine if there is an average number of chromosomes.
- Trisomy of chromosome pairs can sometimes result in a live birth, Down syndrome, also called trisomy 21 (an extra chromosome in average pair # 21), Turner syndrome (trisomy 18) and Patau syndrome (trisomy 13).
PGT-M stands for preimplantation genetic testing for the detection of monogenic gene disorders
- PGT-M analyzes a child being born with a genetic mutation.
- It can also cause an inherited genetic mutation, such as the BRCA1 and BRCA2 mutations, significantly increasing a woman’s risk of breast and ovarian cancer.
PGT-M examines common disorders, including:
- Huntington’s disease
- Sickle cell anaemia
- Muscular dystrophy
- Cystic fibrosis
- BRCA1 & BRCA2 mutations
- Fragile-X syndrome
- Tay-Sachs disease
PGT-SR stands for preimplantation testing for structural rearrangements
Preimplantation genetic testing-structural rearrangements are used to test embryos at risk for chromosome gains and losses related to parental structural chromosomal abnormalities (e.g. translocations, inversions, deletions, and insertions).
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LIMITATIONS
- Patients and healthcare providers should know that a negative preimplantation genetic test result does not guarantee a newborn without congenital abnormalities.
- Furthermore, experienced laboratory personnel in IVF and genetics are essential for a patient’s success.
BENEFITS
- Euploid embryo transfer results in the highest pregnancy and live birth rates, reducing miscarriage risk independent of maternal age.
- PGT-M and PGT-SR exclude the affected embryos, preventing the disorder’s genetic transmission to the offspring.
CONCLUSION: PGT is a primary diagnostic tool to prevent any known genetic disorder transmission. It also helps in populations at high risk of having babies with specific genetic aberrations.
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