scholarly journals Blastocoel Fluid Biopsy

2019 ◽  
Vol 01 (01) ◽  
pp. 17-20
Author(s):  
Luca Gianaroli ◽  
Cristina Albanese ◽  
Carla Tabanelli ◽  
Andor Crippa ◽  
Maria Cristina Magli
Keyword(s):  
Genetic Testing ◽  
Reproductive Medicine ◽  
Chromosomal Abnormalities ◽  
Invasive Technique ◽  
Implantation Failure ◽  
Genomic Amplification ◽  
Preimplantation Genetic Testing ◽  
Developmental Potential ◽  
Valuable Source ◽  
Comprehensive Chromosome Screening

The identification of viable embryos for transfer is one of the main challenges in reproductive medicine. As chromosomal abnormalities are the major cause of implantation failure, preimplantation genetic testing of aneuploidy plays an important role in embryo selection. To make this approach more efficient, the possibility to retrieve informative DNA through a moderately invasive technique compared to the traditional forms of biopsy is appealing. Blastocoelic fluid is a valuable source of DNA. Its presence, as detected by whole genomic amplification, and the following analysis by comprehensive chromosome screening could add important information on the blastocyst ploidy condition and developmental potential.

scholarly journals Chromosomal Concordance between the Baby Produced by Preimplantation Genetic Testing Embryo and the Trophectoderm Biopsy: a Retrospective Study

2021 ◽  
Author(s):  
Zhongyuan Yao ◽  
Xiaoxia Wang ◽  
Jun Zeng ◽  
Jing Zhao ◽  
Qiuping Xia ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Diagnostic Accuracy ◽  
Peripheral Blood ◽  
Chromosomal Abnormalities ◽  
Snp Array ◽  
Chromosome Analysis ◽  
Clinical Trial Registry ◽  
Preimplantation Genetic Testing ◽  
Developmental Potential ◽  
Low Sensitivity

Abstract BackgroundChromosomal mosaicism and aneuploidies are routine phenomena throughout human pre- and post-implantation development. The benefit of implanting mosaicism or aneuploidies is still controversial. The purposes of the study are to investigate the developmental potential of embryos with chromosomally segmental or mosaic abnormalities, and whether precise Next Generation Sequencing (NGS) resolution would reduce the development of an abnormal embryo in preimplantation genetic testing (PGT) cycles.MethodsThe peripheral blood of 17 PGT babies were collected for single nucleotide polymorphism (SNP) array and were compared with trophectoderm (TE) biopsy results at different NGS resolutions.Results76.5% (13/17) of babies’ peripheral blood chromosome analysis was consistent with 10Mb TE biopsies and 58.8% (10/17) of babies’ analysis was consistent with 4Mb TE biopsies. 2 babies who had euploid TE showed abnormal peripheral blood chromosome analysis. 17.6% (3/17) embryos with aberrant TE biopsies produced healthy babies. Although the sensitivity of 10Mb was lower than 4Mb (25% vs. 50%), the specificity (100% vs. 76.9%), PPV (100% vs. 40%) and diagnostic accuracy (82.4% vs. 70.6%) of 10Mb showed better results than 4Mb.Conclusion(s)The chromosomal results between peripheral blood samples and TE biopsies of born babies are not completely congruent. Aneuploid and mosaic embryos have potential to produce healthy babies, whereas normal embryos also have chance to produce babies with chromosomal abnormalities. In spite of low sensitivity of both resolutions, 10Mb has higher specificity, PPV and diagnostic accuracy than 4Mb. It is suggested that TE biopsy be analyzed in both 10Mb and 4Mb resolutions to uncover severely adverse chromosomal aberrations but use 10Mb resolution to guide transfer.Trial registrationThe study was retrospectively registered in the Chinese Clinical Trial Registry (ChiCTR2100042522).

scholarly journals Preimplantation genetic testing for aneuploidy: state of the art, trends and perspectives

2019 ◽  
pp. 3-12
Author(s):  
И.Н. Лебедев
Keyword(s):  
Genetic Testing ◽  
Reproductive Medicine ◽  
Chromosomal Abnormalities ◽  
State Of The Art ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
Current State ◽  
Reproductive Losses ◽  
Chromosomal Diseases

Профилактика хромосомных болезней через преимплантационную генетическую диагностику становится актуальным востребованным направлением современной репродуктивной медицины и генетики. Скрининг эмбрионов в рамках циклов экстракорпорального оплодотворения позволяет исключить перенос анеуплоидных бластоцист, обеспечивая повышение вероятности наступления беременности и рождения здорового ребенка, а также снижая риски репродуктивных потерь вследствие хромосомной патологии. В настоящем обзоре обсуждается современное состояние технологий преимплантационного генетического тестирования хромосомного статуса эмбрионов, сохраняющиеся в этой сфере проблемы, а также перспективные направления исследований, призванные дать решение возникающим вызовам. Prevention of chromosomal diseases through preimplantation genetic testing is an edge issue of current reproductive medicine and genetics. Embryo testing during in vitro fertilization cycles is designed to eliminate the transfer of aneuploid blastocysts, providing an increased probability of the take home babies, as well as reducing the risks of reproductive losses due to chromosomal abnormalities. The current state of the preimplantation genetic testing, its trends and perspectives are discussed.

In vitro fertilization and preimplantation genetic testing methods in infertility treatment of a woman with karyotype 46,XX,ins(13;4)(q34;p14p15.3),inv(4)(p14q12). Case report

GYNECOLOGY ◽  
2021 ◽  
Vol 23 (5) ◽  
pp. 441-444
Author(s):  
Zhanna I. Glinkina ◽  
Elena V. Kulakova ◽  
Elena G. Lebedeva ◽  
Varvara S. Kuzmicheva ◽  
Nataliya P. Makarova
Keyword(s):  
Genetic Testing ◽  
High Throughput ◽  
High Throughput Sequencing ◽  
Chromosomal Abnormalities ◽  
Reproductive Technologies ◽  
Infertility Treatment ◽  
Preimplantation Embryos ◽  
Sequencing Analysis ◽  
Preimplantation Genetic Testing ◽  
And Inversion

The frequency of structural chromosomal transpositions can range from 1.8 to 8% among patients with reproductive disorders. There are several types of the rarest chromosomal abnormalities: insertion (insertion of a chromosomal region) and inversion (rotation of a chromosome region). This article describes a clinical case of the infertility treatment using assisted reproductive technologies in a woman with a rare chromosomal abnormality: simultaneous insertion and inversion of chromosomes 46, XX, ins (13;4)(q34;p14p15.3), inv(4)(p14q12). The structure and frequency of chromosomal aberrations were determined by high-throughput sequencing in preimplantation embryos. The result of the sequencing analysis showed that unbalanced variants for a known pathology were detected in 9 (56.3%) out of 16 observations, while in 6 (37%) only for a pathology known in the karyotype and in 3 (19%) they were presented simultaneously with the pathology of other chromosomes or with mosaicism. According to the results of the study, in preimplantation embryos, where one of the parents had chromosomal abnormalities, in addition to unbalanced variants, there is aneuploidy of other chromosomes not involved in the known pathology. They are described in 3 (21%) out of 14 observations of all identified pathology. In this regard, patients with aberrations in the karyotype are recommended, whenever possible, to carry out preimplantation genetic testing of structural rearrangements by methods allowed to analyze all chromosomes simultaneously. For example, high-throughput sequencing on the Illumina platform may become an alternative for prenatal diagnostics, which is performed in fertile couples with high risk of having a child with hereditary or congenital disorders. In the case of detection of chromosomal changes in the fetus, patients are faced with a number of ethical issues related to the necessity for medical abortion, which may contradict their religious and moral convictions.

Preimplantation Genetics

2021 ◽  
pp. 98-109
Author(s):  
Valerie Gutmann Koch
Keyword(s):  
Genetic Testing ◽  
Informed Consent ◽  
Genetic Disease ◽  
Chromosomal Abnormalities ◽  
Preimplantation Genetic Testing ◽  
Economic Implications ◽  
Genetic Traits ◽  
Ethical Implications ◽  
Wrongful Life ◽  
Wrongful Birth

This chapter highlights the uses and ethical implications of preimplantation genetic testing and addresses the topic of liability as it applies to use of this technology to screen and select embryos for chromosomal abnormalities and genetic traits prior to implantation. When errors or wrongs occur, there may be significant medical, psychological, and economic implications for those individuals who sought preimplantation testing to avoid a genetic disease or to improve the chance of achieving pregnancy. Informed consent, wrongful birth, and wrongful life claims may be available to those who are harmed due to these errors.

Technological platforms for preimplantation genetic testing for aneuplody: comparative effectiveness of diagnosing chromosomal abnormalities

2020 ◽  
Vol 4_2020 ◽  
pp. 65-71
Author(s):  
Маlysheva О.V. Маlysheva ◽  
Bichevaya N.K. Bichevaya ◽  
Gzgzyan А.М. Gzgzyan ◽  
Glotov О.S. Glotov О ◽  
Kinunen А.А. Kinunen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Comparative Effectiveness ◽  
Chromosomal Abnormalities ◽  
Preimplantation Genetic Testing ◽  
Technological Platforms

scholarly journals Preimplantation genetic testing

2021 ◽  
Vol 2 (2) ◽  
pp. 52-63
Author(s):  
Ana Jeremić ◽  
Dragana Vuković ◽  
Srna Subanović ◽  
Jovana Broćić ◽  
Biljana Macanović
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Success Rate ◽  
Embryo Transfer ◽  
Trinucleotide Repeat ◽  
Chromosomal Abnormalities ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization

The application of preimplantation genetic testing (PGT) began in the late 1980s. Pre-implantation genetic testing, as the earliest possible method of prenatal diagnosis, enables the selection of embryos with a normal karyotype for embryo transfer. The use of preimplantation genetic testing has proven to be a useful method in the following three groups of inherited diseases: monogenic disorders (single gene defects), trinucleotide repeat disorders, and chromosomal abnormalities. The success rate of in vitro fertilization (IVF) has increased significantly since the introduction of PGT into clinical practice. This paper presents a literature review with the aim of clearly determining the role of PGT in embryo selection before embryo transfer, as well as the role of this type of testing in increasing the success rate of IVF. One of the goals of the paper is also to review the development of molecular genetic methods that are currently, or have once been, in routine use when performing PGT. The current literature is an indicator of the development and progress of molecular genetics techniques applied in PGT. At the same time, it provides an opportunity and an incentive for further extensive research that will lead to the improvement of preimplantation genetic testing and thus increase the success rate of in vitro fertilization.

scholarly journals Preimplantation Genetic Testing: A Review of Past and Current

2021 ◽  
pp. 78-85
Author(s):  
Aisha Elaimi
Keyword(s):  
Genetic Testing ◽  
Reproductive Medicine ◽  
Reproductive Technology ◽  
Molecular Techniques ◽  
Genetic Defects ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization ◽  
The Past ◽  
Genetic Technologies

The field of medical genetics has seen significant and incredible advances in technology for the past several decades. Genetic technologies, particularly in the reproductive medicine discipline, represent a fresh era in medicine that may develop significantly in the coming years. The purpose of Preimplantation Genetic Testing (PGT) in the situation of assisted reproductive technology (ART) treatments with IVF (in vitro fertilization) or ICSI (intracytoplasmic sperm injection) is particularly controversial as it is done before implantation [1]. However, despite the successful application of PGT in the field of IVF in overcoming infertility and genetic defects, the techniques pose various limitations, and concerns that need to be addressed to enhance their success rate [2]. This review will introduce PGT and summarize the molecular techniques used in its application as well as highlight the future advances in the field.

scholarly journals Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 602 ◽  
Author(s):  
Manuel Viotti
Keyword(s):  
Genetic Testing ◽  
Clinical Outcomes ◽  
Assisted Reproductive Technologies ◽  
Chromosomal Abnormalities ◽  
Reproductive Technologies ◽  
Chromosomal Mosaicism ◽  
Human Embryos ◽  
Chromosomal Anomalies ◽  
Structural Rearrangements ◽  
Preimplantation Genetic Testing

There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART). Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal anomalies are also responsible for a large proportion of miscarriages and congenital disorders. There is therefore tremendous value in methods that identify embryos containing chromosomal abnormalities before intrauterine transfer to a patient being treated for infertility—the goal being the exclusion of affected embryos in order to improve clinical outcomes. This is the rationale behind preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (-SR). Contemporary methods are capable of much more than detecting whole chromosome abnormalities (e.g., monosomy/trisomy). Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplications. Earlier approaches to screening for chromosomal abnormalities yielded a binary result of normal versus abnormal, but the new refinements in the system call for new categories, each with specific clinical outcomes and nuances for clinical management. This review intends to give an overview of PGT-A and -SR, emphasizing recent advances and areas of active development.

Preimplantation genetic testing for balanced complex chromosomal rearrangement carriers by comprehensive chromosome screening

2019 ◽  
Author(s):  
Gang Li ◽  
Weiyi Shi ◽  
Wenbin Niu ◽  
Jiawei Xu ◽  
Yihong Guo ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Snp Array ◽  
Chromosome Analysis ◽  
High Rate ◽  
Normal Embryo ◽  
Ovum Donation ◽  
Preimplantation Genetic Testing ◽  
Abnormal Embryo ◽  
Comprehensive Chromosome Screening ◽  
Structural Aberrations

Abstract Background: Balanced complex rearrangements (BCCRs) are balanced chromosomal structural aberrations that involve two or more chromosomes and at least three breakpoints. It is very rare in the population. Whether the couple of BCCRs benefit from preimplantation genetic testing (PGT) need to be further explored. Here, we reported the outcome of PGT in BCCRs carriers. Results: A total of 141 oocytes were retrieved from 7 couples within 10 PGT cycles, including 116 mature oocytes (MII), and 94 (81.03%) oocytes normally fertilized after intracytoplasmic sperm injection (ICSI). Then, 47 embryos were biopsied, including 8 embryos at the cleavage stage and 39 (41.49%) blastocysts. After comprehensive chromosome analysis, the balanced or normal embryo rate was 11.36% (5), the abnormal embryo rate was 88.63% (39), and 3 failed to amplify. Among them, the balanced or normal embryo rate was 33.33% (3) and the abnormal embryo rate was 66.67% (6) in the three-way rearrangements. The balanced or normal embryo rate was 5.6% (1) and the abnormal embryo rate was 94.4% (17) in double two-way translocations. The balanced or normal embryo rate was 5.9% (1) in exceptional CCRs, and the abnormal embryo rate was 94.1% (16). There were no significant differences among the three groups (P=0.11). In the 10 PGT cycles, there were 7 cycles in which no embryo could be transplanted and 3 cycles in which balanced or normal embryos underwent frozen-thawed embryo transplantation. One of the 3 cycles was clinically pregnant, and the prenatal diagnosis of amniocytes using G-band and SNP array at 16 weeks of gestation was 46, XN, and a boy was born alive and healthy. Conclusions: BCCR carriers have a high rate of obtaining abnormal embryos, but they can also have healthy offspring. For BCCR carriers with fertility needs, PGT is recommended to have related offspring, or they can choose sperm donor or ovum donation-assisted reproduction.

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