This study aimed to determine whether karyomapping can be applied to couples requiring preimplantation genetic diagnosis (PGD) for single gene disorder (SGD) and/or chromosomal rearrangement. 75/82 (91.5%) and 6/82 (7.3%) couples were referred for autosomal SGD and X-linked disease, respectively. One couple (1.2%) was referred for SGD and chromosomal rearrangement. Of 608 embryos, 146 (24%, 95% CI 21-28) day-3 and 462 (76%, 95% CI 72-79) blastocyst biopsies were performed. A total of 81 embryo transfers were performed; 16/81 (20%) were following day-3 embryo biopsy, 65/81 (80%) were following blastocyst biopsy and cryopreserved embryo transfer. Of 81 embryo transfers with known pregnancy outcome, 51 (63%, 95% CI 52-73) were on-going pregnancies, 6/81 (7%, 95% CI 3-15) resulted in first trimester miscarriages and 24/81 (30%, 95% CI 21-40) were failed implantations. Of the 51 on-going pregnancies, 15 (29%, 95% CI 19-43) couples had a singleton live birth at the time of write up. There have been no reports of abnormal prenatal, genetic testing or diagnosis of phenotype at birth. Karyomapping is reliable, efficient and accurate for couples requiring PGD for SGD and/or chromosomal rearrangement. Additionally, it provides aneuploidy screening, minimising risks of miscarriage and implantation failure.
There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington Disease (HD) a late-onset autosomal dominant neuro-degenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and pre-implantation diagnosis for HD in the United Kingdom since services commenced. Methods: Long term UK wide prospective case record-based service evaluation in 23 UK Regional
Key content
Preimplantation genetic diagnosis (PGD) was developed for couples at risk of transmitting a genetic disorder to their children.
Before PGD, options available to these couples were remaining childless, prenatal diagnosis, gamete donation or adoption.
Couples requesting PGD have in vitro fertilisation (IVF) to produce embryos for biopsy, even if they are fertile.
Learning objectives
To understand indications for PGD.
To learn about the genetic work up required prior to undergoing IVF.
To learn about IVF, embryogenesis, the biopsy process and when to transfer disease‐free/carrier embryo(s).
Ethical issues
PGD for ‘saviour sibling’: should couples be offered human leucocyte antigen (HLA) matched treatment for a child who is in remission or who may develop the late onset condition?
PGD for sex selection: should we offer sex selection for ‘family balancing’?
(Abstracted from Reprod Biomed Online 2017;35:264–271)
Karyomapping and single-nucleotide polymorphism (SNP) is a new technique for diagnosing single-gene disorders (SGDs) and chromosomal rearrangements, in which cells biopsied from embryos are lysed, undergo whole-genome amplification, and are analyzed using a microarray capable of interrogating a large number of SNPs. The data produced by karyomapping reveal whether the combination of alleles on the parental chromosome(s) carrying the mutation has been inherited, and karyomapping has the potential to diagnose more than 1 serious monogenic disorder or monogenic disorder combined with a chromosomal rearrangement at once.
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