Preimplantation genetic testing for aneuploidy (PGT-A)—a single-center experience

Nair, Jiny; Shetty, Sachin; Kasi, Cynthia Irene; Thondehalmath, Nirmala; Ganesh, Deepanjali; Bhat, Vidyalakshmi R; Mannadia, Sajana; Ranganath, Anjana; Nayak, Rajsekhar; Gunasheela, Devika; Shetty, Swathi

doi:10.1007/s10815-022-02413-3

Cited by 8 publications

(8 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Recent evidence brought us closer to resolving the true value of PGT-A [ 52 ] despite the necessity of future studies [ 42 ]. Four chromosomes (15, 16, 21, and 22) [ 55 ] are frequently reported, and identified in abnormalities [ 56 ]. SNP-based PGT-A possesses the ability to mitigate the negative effects of maternal age on IVF outcomes [ 39 ].…”

Section: Resultsmentioning

confidence: 99%

A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach

et al. 2022

View full text Add to dashboard Cite

Background: PGT-based NGS revolutionized the field of reproductive medicine becoming an integrated component within current assisted reproductive technology (ART) protocols. Methods: We searched the literature published in the last half a decade in four databases (PubMed/Medline, ISI Web of Knowledge, ScienceDirect, and Scopus) between 2018 and2022. Results: A total of 1388 articles were filtered, from which 60 met, initially, the eligibility criteria, but only 42 were included (≥100 patients/couples—62,465 patients and 6628 couples in total) in the present mini-review. In total, forty-two (70.0%) reported reproductive outcomes, while eighteen (30.0%) had distinct objectives. Furthermore, n = 1, 1.66% of the studies focused on PGT, n = 1, 1.66% on pre-implantation genetic testing for monogenic disorders (PGT-M), n = 3, 5.0% on pre-implantation genetic testing for structural rearrangements (PGT-SR) and n = 55, 91.66% on pre-implantation genetic testing for aneuploidies (PGT-A). Conclusions: PGT using NGS proved to be an excellent companion that folds within the current ascending tendency among couples that require specialty care. We strongly encourage future studies to provide a systematic overview expanded at a larger scale on the role of the PGT-NGS.

show abstract

Section: Resultsmentioning

confidence: 99%

A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach

et al. 2022

View full text Add to dashboard Cite

show abstract

“…It is well known that increased maternal age is an independent factor that negatively impacts the probability of obtaining a euploid embryo ( 2 , 25 ). In line with this, we found that the incidence of de novo chromosomal abnormalities increased with maternal age.…”

Section: Discussionmentioning

confidence: 99%

“…In assisted reproductive technology (ART), aneuploidy is one of the most significant causes of pregnancy failure and miscarriage. Aneuploidy occurs due to meiotic errors during gametogenesis, the fertilization of unbalanced gametes or mitotic errors during embryonic development ( 1 , 2 ). Therefore, a major goal of controlled ovulation hyperstimulation (COH) is to achieve maximal follicular development during a single menstrual cycle.…”

Section: Introductionmentioning

confidence: 99%

Controlled ovarian hyperstimulation parameters are not associated with de novo chromosomal abnormality rates and clinical pregnancy outcomes in preimplantation genetic testing

Shen

Zhang

et al. 2023

Front. Endocrinol.

View full text Add to dashboard Cite

ObjectiveThis study aimed to determine whether controlled ovarian hyperstimulation (COH) parameters influence the incidence of de novo chromosomal abnormalities (> 4 Mb) in blastocysts and, thus, clinical pregnancy outcomes in preimplantation genetic testing (PGT).MethodsCouples who underwent preimplantation genetic testing for structural chromosome rearrangements (PGT-SR) and monogenic disorders (PGT-M) were included in this study. The relationships of maternal age, paternal age, stimulation protocol, exogenous gonadotropin dosage, duration of stimulation, number of oocytes retrieved and estradiol (E2) levels on human chorionic gonadotropin (hCG) trigger day with the incidence of de novo chromosomal abnormalities were assessed. Blastocysts were biopsied, and nuclear DNA was sequenced using next-generation sequencing (NGS). Clinical pregnancy outcomes after single euploid blastocyst transfers under different COH parameters were assessed. ResultsA total of 1,710 and 190 blastocysts were biopsied for PGT-SR and PGT-M, respectively. The rate of de novo chromosomal abnormalities was found to increase with maternal age (p< 0.001) and paternal age (p = 0.019) in the PGT-SR group. No significant differences in the incidence of de novo chromosomal abnormalities were seen for different maternal or paternal age groups between the PGT-SR and PGT-M groups (p > 0.05). Stratification analysis by gonadotropin dosage, stimulation protocol, duration of stimulation, number of retrieved oocytes and E2 levels on hCG trigger day revealed that de novo chromosomal abnormalities and clinical pregnancy outcomes were not correlated with COH parameters after adjusting for various confounding factors.ConclusionThe rate of de novo chromosomal abnormalities was found to increase with maternal or paternal age. COH parameters were found to not influence the incidence of de novo chromosomal abnormalities or clinical pregnancy outcomes.

show abstract

“…PGT-M is an effective and safe procedure for parents at high risk of transmitting genetic disorders to offspring to have children. This technique is mainly used to screen for monogenic diseases, chromosomal diseases, and aneuploidy (18)(19)(20). The PGT-M technique was used on this mother to prevent her from transferring these two heterozygous mutations of the ITGB4 gene related to ACC to her children.…”

Section: Discussionmentioning

confidence: 99%

A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita

Yang

Shi

et al. 2022

Front. Pediatr.

View full text Add to dashboard Cite

BackgroundAplasia cutis congenita (ACC), also called congenital cutaneous hypoplasia, is a serious disease in newborns. Children with ACC often die due to wound infections and bleeding. How the incidence of ACC can be reduced is a question that needs to be solved urgently.Case reportWe reported a mother who had delivered two children with ACC, both of whom were diagnosed with ACC type VI, skin defects, limb deformities, and congenital heart malformations. One infant died a few days after birth, and another died in utero in the second trimester. Genetic testing in both children showed a heterozygous mutation in the ITGB4 gene [17q25 exon 8, c. 794 dupC, (p. Ala266fs) and exon 15, c. 1860G > A]. The mother later successfully gave birth to a healthy baby using Preimplantation Genetic Testing for Monogenic disorders(PGD-M).ConclusionThe PGD-M technique is highly valuable in reducing the incidence of ACC and improving the prognoses of newborns.

show abstract

Preimplantation genetic testing for aneuploidy (PGT-A)—a single-center experience

Cited by 8 publications

References 44 publications

A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach

A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach

Controlled ovarian hyperstimulation parameters are not associated with de novo chromosomal abnormality rates and clinical pregnancy outcomes in preimplantation genetic testing

A successful case of preimplantation genetic testing for monogenic disorder for aplasia cutis congenita

Contact Info

Product

Resources

About