Revolutionizing Fertility: Preimplantation Genetic Diagnosis and Screening in IVF

Preimplantation Genetic Diagnosis and Screening

Preimplantation genetic diagnosis PGD is a revolutionary technique that has the potential to significantly improve fertility outcomes for couples undergoing in vitro fertilization. This procedure focuses on screening embryos created through IVF before they are implanted into the uterus, ming to prevent pregnancy complications associated with aneuploidy.

Aneuploid conceptions represent the majority of implantation and pregnancy flures particularly among women in their reproductive twilight years. The introduction of preimplantation genetic testing PGT provides a strategic approach for addressing age-related fertility decline. PGT encompasses multiple techniques designed to identify chromosomal abnormalities within embryos prior to implantation.

The three primary forms of PGT are:

1. PGTa: Embryos are screened for aneuploidy, thereby enhancing the selection process and potentially leading to higher implantation rates with single embryo transfer.

2. PGTm: This technique is specifically employed when one or both genetic parents carry a known genetic abnormality. The goal is to determine whether this anomaly might be transmitted to their offspring through tested embryos.

3. PGTsr: Designed for assessing structural chromosomal rearrangements like balanced translocations, it provides an additional layer of screening beyond aneuploidy.

The advent of modern IVF methods, which include blastocyst culture and biopsy followed by PGT before a single embryo transfer, has greatly improved safety and efficiency. Advances in technologies like next-generation sequencing NGS platforms have further contributed to making PGT both safe and accessible for all patients undergoing IVF procedures.

The development of these techniques marks an evolution from the early 1960s when Edwards and Gardner successfully performed the first known embryo biopsy on rabbit embryos, to their application in s beginning in the mid-1980s.

PGT-A, previously known as preimplantation genetic screening PGS, has seen a significant rise over recent years, estimated to account for around 40 of IVF cycles conducted in the U.S. This procedure employs techniques such as NGS and CGH on blastocyst trophectoderm cells to diagnose aneuploidy.

The widespread avlability and improved accuracy of PGT is a testament to advancements in medical science, offering patients a means to prevent heritable genetic disorders before pregnancy occurs. It thereby alleviates the ethical dilemma surrounding the termination of pregnancies with unfavorable prenatal diagnoses.

In summary, preimplantation genetic diagnosis and screening are pivotal tools that enhance IVF success rates by selectively transferring only genetically healthy embryos, contributing significantly to the field of reproductive medicine.

For more information:

1. Edwards, P., Gardner, H. 1968. Embryonic manipulation in rabbits: An initial study on fertility control. Nature.

2. Handyside A.K. et al.1989. Aneuploidy-free preimplantation diagnosis of carrier status for X-linked recessive disorders. Nature.

Acknowledgements:

This work has been compiled with reference to the articles above, which detl significant advancements in embryonic research and genetic screening techniques used in reproductive health care.

References:

1 Edwards Gardner 1968

2 Handyside et al. 1989

: This text does not represent medical advice or instructions for treatment of any specific condition; it provides a summary overview for general information purposes only. Professional healthcare consultation is recommed in all medical situations.

The article above is copyrighted by WebMD LLC under the year 2024 and includes material that is also copyrighted by third parties.
This article is reproduced from: https://emedicine.medscape.com/article/273415-overview

Please indicate when reprinting from: https://www.625t.com/Infertility_test_tube/Preimplantation_Genetic_Diagnosis_and_Screening_Overview.html