Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations

McArthur, Steven J.; Leigh, Don; Marshall, James; Gee, Alison; Boer, Kylie A. de; Jansen, Robert P.S.

doi:10.1002/pd.1924

Cited by 90 publications

(44 citation statements)

References 32 publications

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“…In women undergoing pre-implantation genetic screening (PGS), embryos can be transferred when a result becomes available, on day 5 or on day 6 [14]. These patients might also be encouraged to have their tested blastocysts transferred one at a time whether on day 5 or day 6 to avoid multiple pregnancies [15]. These results are also potentially useful to busy units as it allows flexibility in scheduling patients for BET to avoid fluctuations in work load and working in weekends.…”

Section: Resultsmentioning

confidence: 96%

Day 5 expanded blastocysts transferred on same day have comparable outcome to those left for more extended culture and transferred on day 6

Elgindy

Elsedeek

2012

J Assist Reprod Genet

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Objective To study the outcome of blastocysts showing expansion on day 5 and transferred on day 5 or 6, in comparison with those unexpanded and transferred on day 6. Study Design Prospective cohort of 221 women prepared for BET classified into three groups according to timing of blastocyst expansion and day of embryo transfer. Group I; with expanded blastocysts on day 5 having day 5 transfer, group II; with expanded blastocysts on day 5 having day 6 transfer and group III ; with delayed expansion undergoing day 6 BET. Results Implantation rates, pregnancy rates, ongoing pregnancy rates, and live birth rates in the first 2 groups were almost double the rates in the third group. The figures for implantation rates were 40 % in the first two groups vs. 19 % in the third group (P<0.05). Pregnancy rates were 60.9 % and 64 % vs. 31.8 % (P<0.05) and ongoing pregnancy/ live-birth rates were 52.3 % & 56 % vs. 27.3 %. Conclusion The current study reports better implantation and pregnancy rates with earlier expanding blastocysts regardless of the time of transfer.

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Section: Resultsmentioning

confidence: 96%

Day 5 expanded blastocysts transferred on same day have comparable outcome to those left for more extended culture and transferred on day 6

Elgindy

Elsedeek

2012

J Assist Reprod Genet

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“…Implementing PGS on blastocysts resulted in better pregnancy and implantation rates compared to the transfer of genetically screened cleavage stage embryos. This is related to the higher accuracy of genetic diagnosis at the blastocyst stage from the availability of more nuclear material from multiple cells and performing the screening on a more selected pool of embryos than that available at cleavage stage [9]. Delaying PGS to the blastocyst stage limits the number screened embryos to only more competent embryos minimizing the costs of screening and maximizing the accuracy of diagnosis [9][10][11].…”

Section: Introductionmentioning

confidence: 97%

Slow and ultrarapid cryopreservation of biopsied mouse blastocysts and its effect on DNA integrity index

Kader

Falcone

Sharma

et al. 2010

J Assist Reprod Genet

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“…A day 5 blastocyst, rather than a day 3 blastocyst, was used for biopsy in order to have developmentally more competent embryos for diagnosis. Such an approach has been suggested to have technical advantages and an improved pregnancy rate [16,17]. Nonetheless, misdiagnosis can occur during PGD, and several types of errors causing adverse pregnancy outcomes have been reported [18].…”

Section: Discussionmentioning

confidence: 99%

Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment

Xiong

Wang

Gao

et al. 2015

Sci. China Life Sci.

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A couple with a proband child of GJB2 (encoding the gap junction protein connexin 26)-associated hearing impairment and a previous pregnancy miscarriage sought for a reproductive solution to bear a healthy child. Our study aimed to develop a customized preconception-to-neonate care trajectory to fulfill this clinical demand by integrating preimplantation genetic diagnosis (PGD), noninvasive prenatal testing (NIPT), and noninvasive prenatal diagnosis (NIPD) into the strategy. Auditory and genetic diagnosis of the proband child was carried out to identify the disease causative mutations. The couple then received in-vitro-fertilization treatment, and eight embryos were obtained for day 5 biopsy. PGD was performed by short-tandem-repeat linkage analysis and Sanger sequencing of GJB2 gene. Transfer of a GJB2c.235delC heterozygous embryo resulted in a singleton pregnancy. At the 13th week of gestation, genomic DNA (gDNA) from the trio family and cell-free DNA (cfDNA) from maternal plasma were obtained for assessment of fetal chromosomal aneuploidy and GJB2 mutations. NIPT and NIPD showed the absence of chromosomal aneuploidy and GJB2-associated disease in the fetus, which was later confirmed by invasive procedures and postnatal genetic/auditory diagnosis. This strategy successfully prevented the transmission of hearing impairment in the newborn, thus providing a valuable experience in reproductive management of similar cases and potentially other monogenic disorders.

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Blastocyst trophectoderm biopsy and preimplantation genetic diagnosis for familial monogenic disorders and chromosomal translocations

Abstract: For exclusion of genetic disease, day 5-6 blastocyst-stage biopsies are more likely to be followed by implantation and singleton births than is the case after PGD performed on day 3.

Cited by 90 publications

References 32 publications

Day 5 expanded blastocysts transferred on same day have comparable outcome to those left for more extended culture and transferred on day 6

Day 5 expanded blastocysts transferred on same day have comparable outcome to those left for more extended culture and transferred on day 6

Slow and ultrarapid cryopreservation of biopsied mouse blastocysts and its effect on DNA integrity index

Reproductive management through integration of PGD and MPS-based noninvasive prenatal screening/diagnosis for a family with GJB2-associated hearing impairment

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