Fluorescent in-situ hybridization to interphase nuclei of human preimplantation embryos with X and Y chromosome specific probes

Griffin, Darren K.; Handyside, AH; Penketh, Richard; Winston, Rmladjda; Delhanty, Jda

doi:10.1093/oxfordjournals.humrep.a137241

Cited by 113 publications

(45 citation statements)

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“…To replace these methods, some molecular biological techniques have been developed. One of them is in situ hybridization using fluorescent-labeled Y chromosome-specific DNA probes (Griffin et al, 1991). Bradbury et al (1990) sexed biopsied single blastomeres of mouse pre-embryos obtained by in vivo fertilization using PCR amplification of a Y-specific repetitive sequence.…”

Section: Discussionmentioning

confidence: 99%

Sexing ofin vitro-fertilized preimplantation mouse embryos by the PCR method

Yano

1993

Jap J Human Genet

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SummaryThe applicability of the dual PCR method to embryo sexing was examined with the aim of establishing a noninvasive method of preimplantation diagnosis for human genetic disorders. Mouse pre-embryos obtained by in vitro fertilization were studied. The Sry gene sequence and the myogenin sequence were amplified as the Y-specific and internal control sequences, respectively. Amplification of as little as 10 pg of mouse genomic DNA was possible with the dual PCR method, the sensitivity being 10-fold greater than that of the single PCR method. The sex was identified in 100% (24/24) and 96% (23/24) of the pre-embryos tested at the 16-and 4-cell stages, respectively. In addition, the sex of all four single blastomeres dissociated from 4-cell pre-embryos agreed in 76% (16/21) of the specimens tested and 94% (79/84) of dissociated blastomeres could be sexed. The sex of single blastomeres biopsied from pre-embryos at the 8-cell stage could be identified. After transfer of 13 male and 25 female sexed pre-embryos, six viable fetuses were obtained. Histological examination showed that all these fetuses were of the predicted sex.Sexing of biopsied single blastomeres by the dual PCR method was rapid and reliable, suggesting its feasibility for preimplantation diagnosis of in vitro fertilized human pre-embryos.

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Section: Discussionmentioning

confidence: 99%

Sexing ofin vitro-fertilized preimplantation mouse embryos by the PCR method

Yano

1993

Jap J Human Genet

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“…In a clinical setting, following the ultimately unsuccessful attempt to sex biopsy samples reliably using Y specific PCR [6], the group of Joy Delhanty introduced fluorescent in-situ hybridisation (FISH) for the sex chromosomes in preimplantation embryos using X and Y chromosome specific probes [51]. This was followed in 1992 by simultaneous detection of these chromosomes for the application of sexing human preimplantation embryonic nuclei [52][53][54] and between 1992 and 1994, twenty-seven treatment cycles were completed using this technique that resulted in nine pregnancies and five female live births [53][54][55].…”

Section: Detection Of Chromosome Copy Numbermentioning

confidence: 99%

Karyomapping and how is it improving preimplantation genetics?

Gould

Griffin

2017

Expert Review of Molecular Diagnostics

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Introduction: Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different.Areas Covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments. The output displays homologous chromosomes, crossovers and the genetic status of the embryos by linkage comparison, as well as chromosomal disorders. It also allows for determination of heterozygous SNP calls, avoiding the risks of allele dropout, a common problem with other PGD techniques. Manuscripts documenting the evolution of preimplantation genetics, especially those investigating technologies that would simultaneously detect monogenic and chromosomal disorders, were selected for review.Expert Commentary: Karyomapping is currently available for detection of single gene disorders; ~1000 clinics worldwide offer it (via ~20 diagnostic laboratories) and ~2500 cases have been performed. Due an inability to detect post-zygotic trisomy reliably however and confounding problems of embryo mosaicism, karyomapping has yet to be applied clinically for detection of chromosome disorders.

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“…Using rehybridization cycles (two to three cycles), 10-12 chromosomes (e.g., X, Y, 13, 18, 21, 16, 17, 18, 15, 22) can be tested and nearly 70-90% of aneuploidies can be detected (Griffi n et al 1991 ;Grifo et al 1992 ;Munné et al 1993 ;Colls et al 2007 ;Munné et al 2010 ) .…”

Section: Chromosome Testingmentioning

confidence: 99%