Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study

Sacks, Gilat Chaya; Altarescu, Gheona; Guedalia, Judith; Varshaver, Irit; Gilboa, Tal; Levy-Lahad, Ephrat; Eldar‐Geva, Talia

doi:10.1080/09297049.2015.1014900

Cited by 14 publications

(10 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, only a few systematic studies have assessed the cognitive and socio-emotional development of children born after PGD. Internationally, data from five PGD cohorts have been published (Banerjee et al, 2008;Nekkebroeck et al, 2008aNekkebroeck et al, , 2008bNekkebroeck et al, , 2011Thomaidis et al, 2012;Sacks et al, 2015;Winter et al, 2014Winter et al, , 2015.…”

Section: Introductionmentioning

confidence: 99%

The cognitive and socio-emotional development of 5-year-old children born after PGD

et al. 2018

View full text Add to dashboard Cite

show abstract

Section: Introductionmentioning

confidence: 99%

The cognitive and socio-emotional development of 5-year-old children born after PGD

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Notably, concerns persist about long-term neurocognitive outcomes for children conceived after PGD. Children born after PGD were evaluated at five years of age and showed normal developmental neuropsychological outcomes [43]. In contrast, preimplantation genetic screening (PGS) was found to be associated with inferior neurodevelopment in twins, but no specific difference was noted in singletons [44].…”

Section: Resultsmentioning

confidence: 99%

Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

Liao

Chang

et al. 2019

Diagnostics

View full text Add to dashboard Cite

Preimplantation genetic diagnosis (PGD) has become a crucial approach in helping carriers of inherited disorders to give birth to healthy offspring. In this study, we review PGD methodologies and explore the use of amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) and/or linkage analysis for PGD in neurodegenerative diseases that are clinically relevant with typical features, such as late onset, and which are severely debilitating. A total of 13 oocyte retrieval cycles were conducted in 10 cases with various neurodegenerative diseases. Among the 59 embryos analyzed, 49.2% (29/59) were unaffected and 50.8% (30/59) were affected. Of the 12 embryo transfer cycles, three resulted in pregnancy, and all pregnancies were delivered. The implantation rate and livebirth rate were 23.1% (3/13) per oocyte retrieval cycle and 25.0% (3/12) per embryo transfer cycle. Allele dropout (ADO) was noted in two embryos that were classified as unaffected by ARMS-qPCR but were evidenced as affected after prenatal diagnosis, rendering the false negative rate as 6.3% (2/32). Four among the 13 cycles underwent PGD by ARMS-qPCR coupled with linkage analysis, and all were correctly diagnosed. We conclude that PGD by ARMS-qPCR and/or linkage analysis is a feasible strategy, whereas ADO is a concern when ARMS-qPCR is used as the sole technology in PGD, especially in autosomal dominant diseases.

show abstract

“…The follow-up of PGT children at a young age has been studied in smaller cohorts. Developmental neurological and cognitive assessment and follow-up on psychomotor and social functioning showed that PGT pre-schoolers were comparable with controls born after ICSI or after spontaneous conception [67][68][69][70]. Another study on body composition and blood pressure showed no adverse outcomes for 6-year-old children born after PGT (with day 3 embryo biopsy followed by blastocyst transfer) compared to children born after ICSI without embryo biopsy [71].…”

Section: Children Follow-upmentioning

confidence: 98%

Preimplantation Genetic Testing for Monogenic Disorders

Rycke

Berckmoes

2020

Genes

View full text Add to dashboard Cite

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

show abstract

Developmental neuropsychological assessment of 4- to 5-year-old children born following Preimplantation Genetic Diagnosis (PGD): A pilot study

Cited by 14 publications

References 27 publications

The cognitive and socio-emotional development of 5-year-old children born after PGD

The cognitive and socio-emotional development of 5-year-old children born after PGD

Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

Preimplantation Genetic Testing for Monogenic Disorders

Contact Info

Product

Resources

About