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).

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.

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.

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.

scholarly journals Preimplantation Genetic Testing for Monogenic Disorders

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 871 ◽  
Author(s):  
Martine De Rycke ◽  
Veerle Berckmoes
Keyword(s):  
Genetic Testing ◽  
Whole Genome Amplification ◽  
State Of The Art ◽  
Snp Array ◽  
Genetic Data ◽  
Monogenic Disorder ◽  
Preimplantation Genetic Testing ◽  
Monogenic Disorders ◽  
The Cost ◽  
Concurrent Analysis

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

Preimplantation genetic testing of Robertsonian translocation by SNP array-based preimplantation genetic haplotyping

2018 ◽  
Vol 38 (8) ◽  
pp. 547-554 ◽  
Author(s):  
Jing Wang ◽  
Yanhong Zeng ◽  
Chenhui Ding ◽  
Bin Cai ◽  
Baomin Lu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Robertsonian Translocation ◽  
Snp Array ◽  
Preimplantation Genetic Testing ◽  
Preimplantation Genetic Haplotyping

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.

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