Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study

Gianaroli, Luca; Magli, M. Cristina; Pomante, Alessandra; Crivello, Anna Maria; Cafueri, Giulia; Valerio, Marzia; Ferraretti, Anna Pia

doi:10.1016/j.fertnstert.2014.08.021

Cited by 126 publications

(102 citation statements)

References 26 publications

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“…Although these biopsy procedures differ significantly from each other, all involve risk of loss of the embryo. A fourth method, blastocentesis of day 5 or 6 pf blastocysts, is currently being investigated as a less invasive method of gathering genetic material for analysis of the preimplantation embryo (Gianaroli et al 2014). Access to embryoderived DNA in the blastocoele cavity using this method might allow diagnosis without the removal of a blastomere or trophectoderm.…”

Section: Biopsy Methodsmentioning

confidence: 99%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

119

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Section: Biopsy Methodsmentioning

confidence: 99%

Genetic Considerations in Recurrent Pregnancy Loss

Hyde

Schust

2015

Cold Spring Harbor Perspectives in Medicine

119

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“…Palini et al (23) reported the observation of the existence of DNA in the blastocoele fluid, Gianaroli et al (24) performed a pilot study on chromosome screening using blastocentesis, and Stigliani et al (25,26) observed genomic and mitochondria DNA contents in the culture medium, which were correlated with embryo quality. Wu et al (27) reported the PCR detection of the secreted genomic DNA in the culture medium for preimplantation…”

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.

207

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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“…journals.viamedica.pl/ginekologia_polska blastomeres or cells collected from the trophectoderm of blastocysts [4]. Recently, there have been reports on the possibility of collecting material from fluid in the blastocyst cavity and blastomeres from a morula stage embryo, after decompaction [7,8].…”

Section: Materials Collection Methodsmentioning

confidence: 99%

Current methods for preimplantation genetic diagnosis

Liss¹,

Chromik²,

Szczyglińska³

et al. 2016

Ginekol Pol

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Preimplantation Genetic Diagnosis (PGD) used in assisted reproduction techniques is designed to provide help for couples trying to conceive a child, as it helps deliver healthy offspring. After in vitro fertilization, material is collected from the oocyte (polar body), 3-day-old embryo, or increasingly often, from the trophectoderm of a blastocyst. Selection of the diagnostic method depends on the testing center, but methods such as aCGH (Comparative Genomic Hybridization Array) and NGS (Next-Generation Sequencing) are supposed to have the highest reliability and precision. This paper presents a review of the most important methods used in PGD, their advantages and disadvantages as well as efficacy in the procedures in which they are used.

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Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study

Cited by 126 publications

References 26 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

Current methods for preimplantation genetic diagnosis

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