The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening

Martin, J. Lercher; Cervero, Ana; Mir, Pere; Martinez, Jose Antonio Conejero; Pellicer, António; Simón, Carlos

doi:10.1016/j.fertnstert.2013.02.001

Cited by 72 publications

(36 citation statements)

References 66 publications

(72 reference statements)

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“…In the wake of the completion of the human genome project, future preimplantation genetic testing is predicted to include affordable sequencing of individual embryonic cells for comprehensive chromosomal and single-gene disorder analysis (Martin et al 2013). Two studies have investigated the use of such next-generation sequencing (NGS) for preimplantation embryo assessment.…”

Section: Future Directionsmentioning

confidence: 99%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

116

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Section: Future Directionsmentioning

confidence: 99%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

116

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“…There are various PGS methods for comprehensive chromosome screening currently in clinical use, including comparative genomic hybridization (array-CGH) (4,5), single-nucleotide polymorphism (SNP) arrays (6-9), multiplex quantitative PCR (10), and next-generation sequencing (NGS) (11,12). Multiple clinical trials have confirmed the clinical efficacy of PGS, including increasing implantation and clinical pregnancy rates, as well as decreasing miscarriage rates (13)(14)(15)(16).…”

mentioning

confidence: 99%

Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization

Fang

Chen

et al. 2016

Proc. Natl. Acad. Sci. U.S.A.

199

218

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Preimplantation genetic screening (PGS) is widely used to select in vitro-fertilized embryos free of chromosomal abnormalities and to improve the clinical outcome of in vitro fertilization (IVF). A disadvantage of PGS is that it requires biopsy of the preimplantation human embryo, which can limit the clinical applicability of PGS due to the invasiveness and complexity of the process. Here, we present and validate a noninvasive chromosome screening (NICS) method based on sequencing the genomic DNA secreted into the culture medium from the human blastocyst. By using multiple annealing and looping-based amplification cycles (MALBAC) for whole-genome amplification (WGA), we performed next-generation sequencing (NGS) on the spent culture medium used to culture human blastocysts (n = 42) and obtained the ploidy information of all 24 chromosomes. We validated these results by comparing each with their corresponding whole donated embryo and obtained a high correlation for identification of chromosomal abnormalities (sensitivity, 0.882, and specificity, 0.840). With this validated NICS method, we performed chromosome screening on IVF embryos from seven couples with balanced translocation, azoospermia, or recurrent pregnancy loss. Six of them achieved successful clinical pregnancies, and five have already achieved healthy live births thus far. The NICS method avoids the need for embryo biopsy and therefore substantially increases the safety of its use. The method has the potential of much wider chromosome screening applicability in clinical IVF, due to its high accuracy and noninvasiveness.

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“…However, with the decrease of price of sequencing, many clinical diagnostic procedures (e.g. preimplantation diagnostics (72,73)) will be replaced by sequencing. It will become possible to untangle great heterogeneity of complex genetic disorders (cancer, neuro-psychiatric disorders) (74,75).…”

Section: Resultsmentioning

confidence: 99%

The History of DNA Sequencing / ISTORIJAT SEKVENCIRANJA DNK

Gužvić¹

2013

Journal of Medical Biochemistry

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SummaryDuring the last decade, the cost of DNA sequencing technologies has decreased several orders of magnitude, with the proportional increase of speed and throughput. Human Genome Project took almost 15 years to complete the sequence of the human genome. With the second and third generation technologies, this can be done in the matter of days or hours. This progress and availability of sequencing instruments to virtually every researcher leads to replacing of many techniques with DNA sequencing and opens new venues of research. DNA sequencing is used to investigate basic biological phenomena, and is probably going to be increasingly used in the context of health care (preimplantation diagnostics, oncology, infectious diseases). Current trends are aiming towards the price of 1000$ for sequencing of one human genome. Without any doubt, we can expect improvement of existing and the development of fourth generation technologies in the coming years.Keywords: DNA sequencing; genome; molecular biology Kratak sadr`ajTokom poslednjih 10 godina, cena sekvenciranja DNK se drasti~no smanjila, dok se, suprotno tome, brzina sekvenciranja i veli~ina genoma koja se mo`e sekvencirati u jedinici vremena, pove}ala. Sekvenciranje kompletnog humanog genoma u okviru projekta »Humani Genom« trajalo je skoro 15 godina. Sa dana{njim stepenom razvoja, tehnologijama sekvenciranja druge i tre}e generacije, isti projekat bio bi realizovan za nekoliko dana, pa ~ak i sati. Napredak u tehnologiji sekvenciranja i dostupnost novih tipova instrumenata za sekvenciranje gotovo svakoj laboratoriji rezultirala je mnogo masovnijom upotrebom ove metodologije u analizi DNK kao i otvaranjem novih pravaca u istra`ivanjima. Sekvenciranje DNK se koristi za istra`ivanje osnovnih biolo{kih fenomena, i verovatno }e sve vi{e nalaziti upotrebu u za{titi zdravlja (preimplantaciona dijagnostika, onkologija, infektivne bo lesti). Trenutno, osnovni trend u ovoj oblasti je obaranje cene sekvenciranja po pojedina~nom humanom genomu na 1000$. Nema nikakve sumnje da }e se u narednim godinama pojaviti tehnologije ~etvrte generacije.

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The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening

Cited by 72 publications

References 66 publications

Genetic Considerations in Recurrent Pregnancy Loss

Genetic Considerations in Recurrent Pregnancy Loss

Noninvasive chromosome screening of human embryos by genome sequencing of embryo culture medium for in vitro fertilization

The History of DNA Sequencing / ISTORIJAT SEKVENCIRANJA DNK

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