Reproductive risk of t(13q14q) carriers: Case report and review

Harris, D. James; Hankins, Linda L.; Ml, Begleiter

doi:10.1002/ajmg.1320030208

Cited by 31 publications

(8 citation statements)

References 23 publications

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“…It is commonly assumed that the overall miscarriage risk for der(13;14) carriers is not significantly different from the background risk of approximately 15% [Warburton and Fraser, 1964; Scriven et al, 2001] and that there is only an occasional association between der(13;14) and miscarriage [Gardner and Sutherland, 2004]. This is mainly based on the study of Harris et al [1979] resulting in miscarriage risks of 16% for female and 9% for male carriers. In the said study, the miscarriage frequency for male carriers seemed to be even significantly lower than the background risk.…”

Section: Discussionmentioning

confidence: 99%

“…For lack of alternatives, the risk figures determined in some of these older studies are still widely cited although some of them used ascertainment correction methods, which seriously influenced the resulting risk figures. This is exemplified by a study of Harris et al [1979] in which all miscarriages with unknown karyotype were excluded from the analysis. As a consequence of this over‐correction, the resulting miscarriage risks of 16% for female and 9% for male carriers were very low.…”

Section: Introductionmentioning

confidence: 99%

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Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Engels¹,

Eggermann²,

Caliebe³

et al. 2008

American J of Med Genetics Pt A

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Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more than 20 years old. Their results are often contradictory regarding important topics in genetic counseling such as infertility and unfavorable pregnancy outcomes. Here, we present a study on a sample of 101 previously unreported pedigrees of der(13;14)(q10;q10). In order to minimize problems of partial ascertainment, we included families with a wide range of reasons of ascertainment such as birth of a child with congenital anomalies, prenatal diagnosis due to maternal age, fertility problems and recurrent pregnancy loss. No evidence of increased infertility rates of female and male carriers was found. The detected miscarriage frequency of female carriers was higher than previously reported (27.6 +/- 4.0% of all spontaneous pregnancies). This may be explained by an over-correction of earlier studies, which excluded all unkaryotyped miscarriages. In three out of 42 amniocenteses, translocation trisomies 13 were diagnosed (7.1 +/- 4.0% of all amniocenteses). The frequency of stillbirths was 3.3 +/- 1.6% for female carriers and 1.4 +/- 1.4% for male carriers. A low risk for the live birth of translocation trisomy 13 children was confirmed since no live born children with trisomy 13 or Pätau syndrome were detected in the ascertainment-corrected sample.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Engels¹,

Eggermann²,

Caliebe³

et al. 2008

American J of Med Genetics Pt A

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“…There is a significant excess of carrier offspring from the expected 50% (37). The segregation ratios range from 0.55 to 0.66 (40,78). Carriers of ROB are at significant risk for chromosome malsegregation and aneuploid offspring.…”

Section: Segregation Ratios In Familial Rearrangementsmentioning

confidence: 98%

Molecular Mechanisms for Constitutional Chromosomal Rearrangements in Humans

2000

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Cytogenetic imbalance in the newborn is a frequent cause of mental retardation and birth defects. Although aneuploidy accounts for the majority of imbalance, structural aberrations contribute to a significant fraction of recognized chromosomal anomalies. This review describes the major classes of constitutional, structural cytogenetic abnormalities and recent studies that explore the molecular mechanisms that bring about their de novo occurrence. Genomic features flanking the sites of recombination may result in susceptibility to chromosomal rearrangement. One such substrate for recombination is low-copy region-specific repeats. The identification of genome architectural features conferring susceptibility to rearrangements has been accomplished using methods that enable investigation of regions of the genome that are too small to be visualized by traditional cytogenetics and too large to be resolved by conventional gel electrophoresis. These investigations resulted in the identification of previously unrecognized structural cytogenetic anomalies, which are associated with genetic syndromes and allowed for the molecular basis of some chromosomal rearrangements to be delineated.

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“…Furthermore, in view of the literature and our results, we argue that classic genetic counseling for Robertsonian translocation, predicated upon a mean incidence of aneuploidy, is not realistic for couples in certain risk categories (15% risk of miscarriage [21] and 2% risk of aneuploid fetus [22]), although our series is small and needs confirmatory investigations. The obstetric natural history (previous miscarriage or fetal/child aneuploidy) must be taken into account.…”

Section: Resultsmentioning

confidence: 71%

Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study

Gomes

Hammoud

Bailly

et al. 2009

J Assist Reprod Genet

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Introduction Preimplantation genetic diagnosis (PGD) is widely used for women heterozygous for a Robertsonian translocation. Preconceptional diagnosis (PCD), performed before fertilization, may be an alternative to PGD, especially in countries where PGD is restricted or prohibited, as in France. It could also give different information and clarify the influence of reproductive and obstetric history. Methods In our study, translocation was diagnosed before ICSI in five cases (group A), and after newborn or fetal aneuploidy or miscarriage in two cases, (group B). Results First polar body (PB1) analysis using acrocentric centromeric probes was done for 85 PB1s, and aneuploidy rate was at 42.4%. Oocyte aneuploidy rate differed (p< 0.0001) between groups A and B (30% vs 84%). Despite the small group sizes, we demonstrate a correlation (p= 0.0358) of aneuploidy rate in polar bodies after 2 or more attempts. Three live births were recorded, all in group A. Discussion PCD could thus be an alternative to PGD. This pilot study also provides new prognostic information taking into account the women's natural history, but further confirmation is required.

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Reproductive risk of t(13q14q) carriers: Case report and review

Cited by 31 publications

References 23 publications

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees

Molecular Mechanisms for Constitutional Chromosomal Rearrangements in Humans

Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study

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