» Articles » PMID: 36536471

Preimplantation Genetic Testing for Aneuploidy: Challenges in Clinical Practice

Overview
Journal Hum Genomics
Publisher Biomed Central
Specialty Genetics
Date 2022 Dec 19
PMID 36536471
Authors
Affiliations
Soon will be listed here.
Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) has been used widely during in vitro fertilization procedures in assisted reproductive centers throughout the world. Despite its wide use, concerns arise from the use of PGT-A technology in clinical decision-making. We address knowledge gaps in PGT-A, summarizing major challenges and current professional guidelines. First, PGT-A is a screening test and not a diagnostic test. Second, mosaicism is much higher in the blastocyst stage from PGT-A than had been recognized previously and a mosaic embryo may not accurately represent the genetic disease risk for future fetal disorders. Third, PGT-A was not validated clinically before use in patients; the best use of this technology for selected age-groups remains uncertain. Given these gaps, we believe that current professional policies relying on industry-self-regulation are insufficient. In the USA, the Food and Drug Administration may be the most appropriate agency to provide more definitive guidelines and regulations that are needed for better practice.

Citing Articles

[Effect of Preimplantation Genetic Testing for Aneuploidies on Live Birth Outcomes and the Influencing Factors in Women of Advanced Maternal Age].

Luo S, Li X, Wang Y, Fan W, Zhang L, Quan Y Sichuan Da Xue Xue Bao Yi Xue Ban. 2024; 55(5):1288-1294.

PMID: 39507977 PMC: 11536241. DOI: 10.12182/20240960208.


Non-Obstructive Azoospermia and Intracytoplasmic Sperm Injection: Unveiling the Chances of Success and Possible Consequences for Offspring.

Majzoub A, Viana M, Achermann A, Ferreira I, Laursen R, Humaidan P J Clin Med. 2024; 13(16).

PMID: 39201081 PMC: 11355217. DOI: 10.3390/jcm13164939.


Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission.

Wu Z, Liang T, Liu Y, Ding X, Shu D Front Genet. 2024; 15:1389461.

PMID: 39175751 PMC: 11338862. DOI: 10.3389/fgene.2024.1389461.


Advancements and Applications of Preimplantation Genetic Testing in In Vitro Fertilization: A Comprehensive Review.

Gudapati S, Chaudhari K, Shrivastava D, Yelne S Cureus. 2024; 16(3):e57357.

PMID: 38694414 PMC: 11061269. DOI: 10.7759/cureus.57357.


Should non-invasive prenatal testing be recommended for patients who achieve pregnancy with PGT?.

Liang Y, Li M, Fei J, Chen Z BMC Pregnancy Childbirth. 2024; 24(1):100.

PMID: 38302865 PMC: 10832195. DOI: 10.1186/s12884-024-06284-7.


References
1.
Viotti M, McCoy R, Griffin D, Spinella F, Greco E, Madjunkov M . Let the data do the talking: the need to consider mosaicism during embryo selection. Fertil Steril. 2021; 116(5):1212-1219. PMC: 8585724. DOI: 10.1016/j.fertnstert.2021.09.008. View

2.
Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, Meijer-Hoogeveen M . ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum Reprod Open. 2020; 2020(3):hoaa021. PMC: 7257038. DOI: 10.1093/hropen/hoaa021. View

3.
Kokkali G, Coticchio G, Bronet F, Celebi C, Cimadomo D, Goossens V . ESHRE PGT Consortium and SIG Embryology good practice recommendations for polar body and embryo biopsy for PGT. Hum Reprod Open. 2020; 2020(3):hoaa020. PMC: 7257009. DOI: 10.1093/hropen/hoaa020. View

4.
Calhaz-Jorge C, De Geyter C, Kupka M, Wyns C, Mocanu E, Motrenko T . Survey on ART and IUI: legislation, regulation, funding and registries in European countries: The European IVF-monitoring Consortium (EIM) for the European Society of Human Reproduction and Embryology (ESHRE). Hum Reprod Open. 2020; 2020(1):hoz044. PMC: 7002185. DOI: 10.1093/hropen/hoz044. View

5.
Zuckerman S, Gooldin S, Zeevi D, Altarescu G . The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users. J Assist Reprod Genet. 2020; 37(8):1903-1912. PMC: 7468006. DOI: 10.1007/s10815-020-01840-4. View