Birth of a Normal Girl After in Vitro Fertilization and Preimplantation

Handyside, Alan H.; Lesko, J G; Tarı́n, Juan J.; Winston, R. M. L.; Hughes, Mark

doi:10.1097/00006254-199303000-00009

Cited by 10 publications

(5 citation statements)

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“…21 In PGD for single-gene defects, the disease-linked locus is amplified from blastomere DNA using targeted primers designed specifically for the mutation of interest. 1,2,7,[22][23][24] Amplified fragments of DNA can be then analyzed with different strategies to detect the disease-causing mutation(s).…”

Section: Methods Based On Polymerase Chain Reactionmentioning

confidence: 99%

Molecular Genetic Analysis of Single Cells

Fiorentino¹

2012

Semin Reprod Med

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Preimplantation genetic diagnosis (PGD) has experienced a considerable technical evolution since its first application in the early 1990s. The technology for single-cell genetic analysis has reached an extremely high level of accuracy and enabled the possibility of performing multiple diagnoses from one cell. Diagnosis of a monogenic disease can now be combined with aneuploidy screening, human leukocyte antigen typing, and DNA fingerprinting. New technologies such as microarrays are opening the way for an increasing number of serious genetic defects to be detected in preimplantation embryos. The new PGD techniques will empower patients and clinicians to screen for almost any kind of genetic problem in embryos, with the potential to change completely the manner in which parents approach and manage genetic disease.

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Section: Methods Based On Polymerase Chain Reactionmentioning

confidence: 99%

Molecular Genetic Analysis of Single Cells

Fiorentino¹

2012

Semin Reprod Med

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“…In this case, the motivation was to eliminate the transmission of X-linked conditions in which the mother was a carrier (Handyside et al 1990). In 1992, the first healthy birth was reported following PGD for an autosomal recessive disorder after the diagnosis of ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene (Handyside et al 1992). Indeed, PGD is theoretically applicable for any monogenic disorder where the mutation is identifiable by molecular techniques.…”

Section: Brief Historymentioning

confidence: 99%

Chromosomal analysis in IVF: just how useful is it?

Griffin

Oğur²

2018

Reproduction

104

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Designed to minimize chances of genetically abnormal embryos, preimplantation genetic diagnosis (PGD) involves fertilization (IVF), embryo biopsy, diagnosis and selective embryo transfer. Preimplantation genetic testing for aneuploidy (PGT-A) aims to avoid miscarriage and live born trisomic offspring and to improve IVF success. Diagnostic approaches include fluorescence hybridization (FISH) and more contemporary comprehensive chromosome screening (CCS) including array comparative genomic hybridization (aCGH), quantitative polymerase chain reaction (PCR), next-generation sequencing (NGS) and karyomapping. NGS has an improved dynamic range, and karyomapping can detect chromosomal and monogenic disorders simultaneously. Mosaicism (commonplace in human embryos) can arise by several mechanisms; those arising initially meiotically (but with a subsequent post-zygotic 'trisomy rescue' event) usually lead to adverse outcomes, whereas the extent to which mosaics that are initially chromosomally normal (but then arise purely post-zygotically) can lead to unaffected live births is uncertain. Polar body (PB) biopsy is the least common sampling method, having drawbacks including cost and inability to detect any paternal contribution. Historically, cleavage-stage (blastomere) biopsy has been the most popular; however, higher abnormality levels, mosaicism and potential for embryo damage have led to it being superseded by blastocyst (trophectoderm - TE) biopsy, which provides more cells for analysis. Improved biopsy, diagnosis and freeze-all strategies collectively have the potential to revolutionize PGT-A, and there is increasing evidence of their combined efficacy. Nonetheless, PGT-A continues to attract criticism, prompting questions of when we consider the evidence base sufficient to justify routine PGT-A? Basic biological research is essential to address unanswered questions concerning the chromosome complement of human embryos, and we thus entreat companies, governments and charities to fund more. This will benefit both IVF patients and prospective parents at risk of aneuploid offspring following natural conception. The aim of this review is to appraise the 'state of the art' in terms of PGT-A, including the controversial areas, and to suggest a practical 'way forward' in terms of future diagnosis and applied research.

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“…In vitro fertilization, blastomere biopsy from embryos at the 6-to 8-cell stage, and subsequent analysis of the biopsied blastomeres allow the selection of unaffected embryos. These embryos can then be replaced into the uterus of the patient and the resulting pregnancy will give rise to the birth of healthy children (Grifo et aZ., 1992;Handyside et al, 1992). For X-linked recessive diseases, gender determination may be used in PID to select clinically unaffected, carrier or non-carrier females.…”

Section: Second Pid For Dmd By Deletion Detectionmentioning

confidence: 99%

Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

et al. 1995

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To perform preimplantation DNA diagnosis for Duchenne muscular dystrophy (DMD) in a female carrier of a dystrophin gene deletion of exons 3-18, we developed a polymerase chain reaction (PCR)-based assay of exon 17 sequences. Exon 17 was efficiently amplified in all 50 single blastomeres of normal control embryos and in five blastomeres of one male embryo of the DMD carrier obtained after a first preimplantation diagnosis (PID) for gender determination. In ten blastomeres of another two male embryos of the DMD carrier, no PCR signals were observed, probably as a result of the deletion. After intracytoplasmic sperm injection, embryos were analysed for exon 17 and three of the four embryos showing normal PCR signals were replaced, resulting in a singleton pregnancy. Prenatal diagnosis showed a female karyotype and DNA analysis indicated that the fetus was not a DMD carrier.

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Birth of a Normal Girl After in Vitro Fertilization and Preimplantation

Cited by 10 publications

References 0 publications

Molecular Genetic Analysis of Single Cells

Molecular Genetic Analysis of Single Cells

Chromosomal analysis in IVF: just how useful is it?

Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion

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