ReviewHuman genetics2012
Preimplantation genetic diagnosis: state of the art 2011.
Review in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis 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
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 211 citations in OpenAlex.
- Day 5 versus day 3 embryo biopsy for preimplantation genetic testing for monogenic/single gene defects.The Cochrane database of systematic reviews · 2022Pooled it
- The number of biopsied trophectoderm cells may affect pregnancy outcomes.Journal of assisted reproduction and genetics · 2019Trial
- Elective single embryo transfer in in vitro fertilization cycles with or without preimplantation genetic testing using next-generation sequencing: A randomized clinical trial.Clinics (Sao Paulo, Brazil) · 2026Article
- The Use of Stem Cells in Assisted Reproduction.Journal of clinical medicine · 2025Review
- Deciding on genetic testing for familial dementia: Perspectives of patients and families.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome.Journal of assisted reproduction and genetics · 2024Article
- Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.Journal of assisted reproduction and genetics · 2024Article
- A prospective study to evaluate the gender prediction of blastocysts by using cell-free DNA within a culture medium.International journal of reproductive biomedicine · 2022Article
- Comparison of Patients' Ethical Perspectives of Preimplantation Embryo Genetic Testing for Aneuploidy (PGT-A) vs. Monogenic Disorders (PGT-M).Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Can expelled cells/debris from a developing embryo be used for PGT?Journal of ovarian research · 2021Article
- Accurate genomic variant detection in single cells with primary template-directed amplification.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Genetics in human reproduction.JBRA assisted reproduction · 2020Review
- Article
- Reproductive options for families at risk of Osteogenesis Imperfecta: a review.Orphanet journal of rare diseases · 2020Review
- Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives.Cold Spring Harbor perspectives in medicine · 2020Review
- The status of preimplantation genetic testing in the UK and USA.Human reproduction (Oxford, England) · 2020Article
- Article
- Preimplantation genetic testing for monogenic diseases: a Brazilian IVF centre experience.JBRA assisted reproduction · 2019Article
- Accounting for the Moral Significance of Technology: Revisiting the Case of Non-Medical Sex Selection.Journal of bioethical inquiry · 2019Article
- The effect of repeated biopsy on pre-implantation genetic testing for monogenic diseases (PGT-M) treatment outcome.Journal of assisted reproduction and genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For the last 20 years, preimplantation genetic diagnosis (PGD) has been mostly performed on cleavage stage embryos after the biopsy of 1-2 cells and PCR and FISH have been used for the diagnosis. The main indications have been single gene disorders and inherited chromosome abnormalities. Preimplantation genetic screening (PGS) for aneuploidy is a technique that has used PGD technology to examine chromosomes in embryos from couples undergoing IVF with the aim of helping select the chromosomally 'best' embryo for transfer. It has been applied to patients of advanced maternal age, repeated implantation failure, repeated miscarriages and severe male factor infertility. Recent randomised controlled trials (RCTs) have shown that PGS performed on cleavage stage embryos for a variety of indications does not improve delivery rates. At the cleavage stage, the cells biopsied from the embryo are often not representative of the rest of the embryo due to chromosomal mosaicism. There has therefore been a move towards blastocyst and polar body biopsy, depending on the indication and regulations in specific countries (in some countries, biopsy of embryos is not allowed). Blastocyst biopsy has an added advantage as vitrification of blastocysts, even post biopsy, has been shown to be a very successful method of cryopreserving embryos. However, mosaicism is also observed in blastocysts. There have been dramatic changes in the method of diagnosing small numbers of cells for PGD. Both array-comparative genomic hybridisation and single nucleotide polymorphism arrays have been introduced clinically for PGD and PGS. For PGD, the use of SNP arrays brings with it ethical concerns as a large amount of genetic information will be available from each embryo. For PGS, RCTs need to be conducted using both array-CGH and SNP arrays to determine if either will result in an increase in delivery rates.
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.