The role for preimplantation genetic diagnosis in balanced translocation carriers

Sampson, Jone E.; Ouhibi, Nadia; Lawce, Helen J.; Patton, Phillip E.; Battaglia, David E.; Burry, Kenneth A.; Olson, Susan B.

doi:10.1016/j.ajog.2004.02.063

Cited by 20 publications

(22 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The percentage of abnormal embryos derived from oocytes produced by young donors (<35 years of age) has been reported to be as high as 56.5% [38], whereas in studies from the same experienced IVF clinic, the corresponding figures in women with recurrent miscarriage and controls were 71% and 45%, respectively [39]. However, other aneuploidies may be involved in repeated implantation failure and aneuploid miscarriages [7,40] and, therefore, a full chromosome analysis would reveal that the number of embryos containing at least one aneuploid cell in women with advanced maternal age, repeated implantation failure and recurrent pregnancy loss is almost 100% [33,[41][42][43]. In these couples, the etiological role of this fact in subsequent events is unknown.…”

Section: Discussionmentioning

confidence: 89%

“…In the United States, PGS and PGD are often considered as similar treatments, which inflate the number of preimplantation diagnosis cycles reported from this country [6]. Although the technology used by both PGD and PGS is nearly identical, PGS aims to improve pregnancy rates in subfertile couples undergoing IVF/ICSI treatment, whereas PGD aims to prevent the birth of affected children in fertile couples with a high risk of transmitting genetic disorders [7].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis

Checa¹,

Alonso‐Coello²,

Solà³

et al. 2009

J Assist Reprod Genet

View full text Add to dashboard Cite

Purpose To assess the efficacy of preimplantation genetic screening to increase ongoing pregnancy rates in couples without known genetic disorders. Methods Systematic review and meta-analysis of randomized controlled trials. Two reviewers independently determined study eligibility and extracted data. Results Ten randomized trials (1,512 women) were included. The quality of evidence was moderate. Meta-analyses using a random-effects model suggest that PGS has a lower rate of ongoing pregnancies (risk ratio=0.73, 95% confidence interval 0.62-0.87) and a lower rate of live births (risk ratio=0.76, 95% confidence interval 0.64-0.91) than standard in vitro fertilization/intracytoplasmic sperm injection. Conclusions In women with poor prognosis or in general in vitro fertilization program, in vitro fertilization/intracytoplasmic sperm injection with preimplantation genetic screening for aneuploidy does not increase but instead was associated with lower rates of ongoing pregnancies and live births. The use of preimplantation genetic screening in daily practice does not appear to be justified.

show abstract

Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis

Checa¹,

Alonso‐Coello²,

Solà³

et al. 2009

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…Unlike other laboratory tests, PGD is a single cell analysis: typically, only 1–2 blastomeres are biopsied from day 3 embryos [6,9]. Interphase cell analysis is possibly the most important component of PGD, since blastomeres can be in any stage of the cell cycle.…”

Section: Discussionmentioning

confidence: 99%

“…As a clinical manifestation of this problem, patients suffer from reduced fertility, infertility or a history of repeated miscarriages [6]. During the course of IVF, PGD can now be offered to affected couples as an alternative to prenatal diagnosis and medically-indicated termination of pregnancies with chromosomally-unbalanced fetuses [7–9]. If a sufficient number of fertilized normal embryos is available for transfer, PGD also provides an efficient option to put an end to a familial disease [6].…”

Section: Introductionmentioning

confidence: 99%

“…1), thus accelerating the in situ delineation of chromosomal translocation breakpoints and preparation of breakpoint-specific DNA probes [13]. Furthermore, we decided to use sets of overlapping BAC clones forming ‘contigs’ or ‘pools’ instead of single clones, since this minimizes the rates of so-called ‘FISH failures’ or uninformative results [8–9,23–25]. The present article describes the strengths of BAC clone pooling strategies expediting probe preparation for PGD.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days.

Kwan²,

Weier³

et al. 2010

Folia Histochem Cytobiol.

View full text Add to dashboard Cite

Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease, impaired chromosome homologue pairing in meiosis and karyokinesis errors lead to over-representation of translocations carriers in the infertile population and in recurrent pregnancy loss patients. At present, clinicians have no means to select healthy germ cells or balanced zygotes in vivo, but in vitro fertilization (IVF) followed by preimplantation genetic diagnosis (PGD) offers translocation carriers a chance to select balanced or normal embryos for transfer. Although a combination of telomeric and centromeric probes can differentiate embryos that are unbalanced from normal or unbalanced ones, a seemingly random position of breakpoints in these IVF-patients poses a serious obstacle to differentiating between normal and balanced embryos, which for most translocation couples, is desirable. Using a carrier with reciprocal translocation t(4;13) as an example, we describe our state-of-the-art approach to the preparation of patient-specific DNA probes that span or 'extent' the breakpoints. With the techniques and resources described here, most breakpoints can be accurately mapped in a matter of days using carrier lymphocytes, and a few extra days are allowed for PGD-probe optimization. The optimized probes will then be suitable for interphase cell analysis, a prerequisite for PGD since blastomeres are biopsied from normally growing day 3 -embryos regardless of their position in the mitotic cell cycle. Furthermore, routine application of these rapid methods should make PGD even more affordable for translocation carriers enrolled in IVF programs.

show abstract

Genetic Counseling in Prenatal and Perinatal Medicine

Milunsky

2007

Clinical Obstetrics

View full text Add to dashboard Cite

The role for preimplantation genetic diagnosis in balanced translocation carriers

Cited by 20 publications

References 14 publications

IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis

IVF/ICSI with or without preimplantation genetic screening for aneuploidy in couples without genetic disorders: a systematic review and meta-analysis

Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days.

Genetic Counseling in Prenatal and Perinatal Medicine

Contact Info

Product

Resources

About