Singleton births after routine preimplantation genetic diagnosis using exclusion testing (D4S43 and D4S126) for Huntington’s disease

Jasper, Melinda J.; Hu, Dong; Liebelt, Jan; Sherrin, Deborah; Watson, Robert H.; Tremellen, Kelton; Hussey, N

doi:10.1016/j.fertnstert.2005.08.050

Cited by 20 publications

(14 citation statements)

References 15 publications

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“…5,6,11,[29][30][31][32] The mean age of woman at the beginning of the first cycle (31.3 years), as well as the delivery rates per OR (19.8% ) and per ET (24.8%), are similar to those for PGD for HD reported in the ESHRE PGD data collection X (mean age of woman: 32.0 years; delivery rate per OR: 19.8% and per ET: 23.6%). 30 The increased number of oocytes per cycle in Brussels compensated for the reduced number of embryos per ET in Brussels (single ET law since 2003), and did not result in an increased pregnancy rate.…”

Section: Pgd Outcomementioning

confidence: 99%

“…In Australia, the proportion of exclusion PGD was 33%, which is comparable to Brussels. 31,32 One might speculate that the increased interest in exclusion PGD in France is due to the relatively low uptake of presymptomatic testing for HD in France compared with Belgium and the Netherlands. 34 The position of the French Huntington Associations in favour of exclusion testing, coupled with counselling differences, may contribute to this difference.…”

Section: Reproductive Historymentioning

confidence: 99%

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Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

et al. 2011

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on behalf of the BruMaStra PGD working groupThis study provides an overview of 13 years of experience of preimplantation genetic diagnosis (PGD) for Huntington's disease (HD) at three European PGD centres in Brussels, Maastricht and Strasbourg. Information on all 331 PGD intakes for HD, couples' reproductive history, PGD approach, treatment cycles and outcomes between 1995 and 2008 were collected prospectively. Of 331 couples for intake, 68% requested direct testing and 32% exclusion testing (with a preponderance of French couples). At the time of PGD intake, 39% of women had experienced one or more pregnancies. A history of pregnancy termination after prenatal diagnosis was observed more frequently in the direct testing group (25%) than in the exclusion group (10%; P¼0.0027). PGD workup was based on two approaches: (1) direct testing of the CAG-triplet repeat and (2) linkage analysis using intragenic or flanking microsatellite markers of the HTT gene. In total, 257 couples had started workup and 174 couples (70% direct testing, 30% exclusion testing) completed at least one PGD cycle. In total, 389 cycles continued to oocyte retrieval (OR). The delivery rates per OR were 19.8%, and per embryo transfer 24.8%, resulting in 77 deliveries and the birth of 90 children. We conclude that PGD is a valuable and safe reproductive option for HD carriers and couples at risk of transmitting HD.

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Section: Pgd Outcomementioning

confidence: 99%

Section: Reproductive Historymentioning

confidence: 99%

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

et al. 2011

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“…The described assay could be a helpful tool in those cases. Jasper et al [11] have developed a similar protocol for preimplantation diagnosis that provided couples with the opportunity to minimize the likelihood of disease transmission to their children, without the requirement for predictive testing. This strategy could be offered as a confirmatory tool in preimplantation field and as a pre-test to those couples afraid of the abortion risk of invasive prenatal techniques.…”

Section: Discussionmentioning

confidence: 99%

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

González‐González

Garcia‐Hoyos

Trujillo-Tiebas

et al. 2008

J Assist Reprod Genet

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Purpose We focused on the improvements of prenatal diagnosis by the analysis of DNA from maternal plasma, using Huntington disease as a model of disease. Methods We studied plasma from a pregnancy at risk of having a fetus affected with Huntington disease by the use of two direct analysis of the mutation and polymorphic STRs. Results Direct methods were not informative. Analysis with STRs revealed the presence of the allele that does not cosegregate with the disease, thus the fetus was healthy. Conclusions This strategy is very useful to face complex cases when the direct study is not informative not only for Huntington disease but also for many other disorders.

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“…Out of the 13 panel markers, 6 have been previously reported and used successfully in PGD (11)(12)(13)(14)(15)19 ). The remaining 7 markers (HD2098407, HD2362117, HD2417179, HD3139793, HD3377975, HD3615631, and HD3829173), each possessing a PIC value Ͼ0.5, are novel.…”

Section: Discussionmentioning

confidence: 99%

“…The remaining markers, including 6 established/published markers (D4S3038, D4S43, D4S127, D4S126, I1CAHD, and D4S412) and 7 novel markers (HD2098407, HD2362117, HD2417179, HD3139793, HD3377975, HD3615631, and HD3829173), were optimized to coamplify in a multiplex panel. Although D4S3038 lies Ͼ1Mb upstream and furthest from the HTT CAG repeat, it was included in this marker screening because it was previously used in HD PGD (11,12,20 ); the remaining 12 markers all lay within 1 Mb of the HTT CAG repeat (Fig. 1A).…”

Section: Cag Repeatmentioning

confidence: 99%

Identification of Novel Microsatellite Markers <1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease

Zhao¹,

Chen²,

Lee

et al. 2016

Clinical Chemistry

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BACKGROUND Preimplantation genetic diagnosis (PGD) of Huntington disease (HD) generally employs linkage analysis of flanking microsatellite markers to complement direct mutation testing, as well as for exclusion testing. Thus far, only 10 linked markers have been developed for use in HD PGD, with a maximum of 3 markers coamplified successfully. We aimed to develop a single-tube multiplex PCR panel of highly polymorphic markers to simplify HD PGD. METHODS An in silico search was performed to identify all markers within 1 Mb flanking the huntingtin (HTT) gene. Selected markers were optimized in a single-tube PCR panel, and their polymorphism indices were determined in 2 populations. The panel was tested on 63 single cells to validate its utility in PGD. RESULTS We identified 102 markers in silico, of which 56 satisfied the selection criteria. After initial testing, 12 markers with potentially high heterozygosity were optimized into a single-tube PCR panel together with a 13th more distally located marker. Analysis of DNA from 183 Chinese and Caucasian individuals revealed high polymorphism indices for all markers (polymorphism information content >0.5), with observed heterozygosities ranging from 0.5–0.92. All individuals were heterozygous for at least 5 markers, with 99.5% of individuals heterozygous for at least 2 markers upstream and downstream of the HTT CAG repeat. CONCLUSIONS The tridecaplex marker assay amplified reliably from single cells either directly or after whole genome amplification, thus validating its standalone use in HD exclusion PGD or as a complement to HTT CAG repeat expansion-mutation detection.

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Singleton births after routine preimplantation genetic diagnosis using exclusion testing (D4S43 and D4S126) for Huntington’s disease

Cited by 20 publications

References 15 publications

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

Identification of Novel Microsatellite Markers <1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease

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Singleton births after routine preimplantation genetic diagnosis using exclusion testing (D4S43 and D4S126) for Huntington’s disease

Cited by 20 publications

References 15 publications

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres

Improvement in strategies for the non-invasive prenatal diagnosis of Huntington disease

Identification of Novel Microsatellite Markers &lt;1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease

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Identification of Novel Microsatellite Markers <1 Mb from the HTT CAG Repeat and Development of a Single-Tube Tridecaplex PCR Panel of Highly Polymorphic Markers for Preimplantation Genetic Diagnosis of Huntington Disease