ArticleEuropean journal of human genetics : EJHG2013
Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 87 citations in OpenAlex.
- Efficiency versus efficacy: a systematic review and meta-analysis of preimplantation genetic diagnosis versus natural conception for carriers of chromosomal translocations.Journal of assisted reproduction and genetics · 2026Pooled it
- Genetic abnormalities and pregnancy loss.Seminars in perinatology · 2019Pooled it
- An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Exploration of the interchromosomal effects in preimplantation genetic testing for structural rearrangements based on next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- PGT-SR (reciprocal translocation) using trophectoderm sampling and next-generation sequencing: insights from a virtual trial.Journal of assisted reproduction and genetics · 2021Article
- Letter to Editor.Journal of assisted reproduction and genetics · 2021Article
- Expectant management and live birth outcomes for male balanced-translocation carriers: Two case reports and a literature review.Medicine · 2020Review
- Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.Journal of assisted reproduction and genetics · 2020Article
- Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies.Molecular cytogenetics · 2020Article
- Clinical Features of Infertile Men Carrying a Chromosome 9 Translocation.Open medicine (Warsaw, Poland) · 2019Article
- A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy.Journal of assisted reproduction and genetics · 2018Article
- Recurrent pregnancy loss: current perspectives.International journal of women's health · 2017Review
- Number of blastocysts biopsied as a predictive indicator to obtain at least one normal/balanced embryo following preimplantation genetic diagnosis with single nucleotide polymorphism microarray in translocation cases.Journal of assisted reproduction and genetics · 2017Article
- Reproductive outcomes following preimplantation genetic diagnosis using fluorescence in situ hybridization for 52 translocation carrier couples with a history of recurrent pregnancy loss.Journal of human genetics · 2016Article
- PGD management scheme for older females with balanced translocations: Do older females have less chance of balanced embryo transfer?Journal of the Turkish German Gynecological Association · 2016Article
- Pre-pregnancy cytogenetic analysis of general couples in eastern China.Scientific reports · 2014Article
- Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.European journal of human genetics : EJHG · 2014Article
- Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?Journal of clinical medicine · 2014Article
- Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential.Journal of clinical medicine · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridisation probes was carried out for 59 couples carrying reciprocal translocations. Before treatment, 85% of pregnancies had resulted in spontaneous miscarriage and five couples had achieved a healthy live-birth delivery. Following treatment, 33% of pregnancies failed and 21 of 59 couples had a healthy live-born child. The accuracy of diagnosis was 92% (8% false abnormal and 0% false normal results). The overall incidence of 2:2 alternate segregation products was 44%; however, products consistent with 2:2 adjacent segregation were ~twice as likely from male heterozygotes, and those with 3:1 disjunction were three times more likely from female heterozygotes. Our results indicate that up to three stimulation cycles per couple would give an ~50% chance of a successful live birth, with the risk of miscarriage reduced to the level found in the general population. In our study, 87% of all normal/balanced embryos available were identified as being suitable for transfer. We conclude that PGD provides benefit for couples with high-risk translocations by reducing the risk of miscarriage and avoiding a pregnancy with an unbalanced form of the translocation; however, for fertile carriers of translocations with a low risk of conceiving a chromosomally unbalanced offspring, natural conception may be a more viable option.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.