Assisted Reproductive Technology Legal Aspects

European Society of Human Reproduction and Embryology: Genetic Aspects of Female Reproduction, Proceedings of the Capri Workshop Group. Hum Reprod Update 2008; 14: 293–307. A growing range of genetic testing is available to the consumer directly (DTP)13 or directly through a physician without appropriate medical advice and/or genetic counseling.14 High-throughput genomic technologies, which currently include whole exome sequencing (WES)/whole genome sequencing (WGS), not only offer great potential in reproductive genetics15, but also pose significant challenges in terms of clinical benefit. Interpretation of results, evidence of variants of unknown clinical significance, and random (or undesirable) results, including a variety of ethical issues for the index case and its relatives.16, 17 Many of the advances in this area are primarily driven by rapidly changing technologies, with health services unable to adequately match test results in terms of advice and appropriate medical follow-up. face. Recently, the ethical aspects of preconceptual and prenatal genomic testing have been highlighted in many countries, such as: by the Health Council of the Netherlands168 and the Nordic Bioethics Committee.288 The main concerns relate to the lack of clinical application (within the framework of the ACCE (analytical validity, clinical validity, clinical benefit and ethical impact framework, legal and related social for the evaluation of genetic tests)))289, 290 for the majority of tests and the fact that patients/consumers may not have balanced information before testing) receive. Given the size of the potential market, commercial offerings can minimize the risks and exaggerate the potential benefits. In general, these negative developments increase the risk of pregnancy, reduce fertility (thus increasing the need for ART) and increase the risk of transmission of chromosomal and hereditary diseases associated with older age from mother and father to offspring. One of the recurring questions in ART focuses on the extent to which this medical technology could influence the epigenome of human embryos created in vitro. The epigenome includes the complete set of non-covalent modifications of the genetic material of a cell or organism.206 These epigenetic markers or modifications correspond to molecular changes in DNA, such as cytosine methylation and modification of DNA-associated proteins, such as histone methylation, acetylation and deacetylation, and phosphorylation, without affecting the DNA sequence per se. Epigenetic labeling often affects transcriptional activity and controls the developmental plasticity of cells, including cell-type-specific gene expression patterns.207, 208 Epigenetics also studies changes that may be stable throughout an individual`s life. Epimutations are mitotically inherited changes that do not affect the DNA sequence and are associated with the abnormal increase or decrease in the methylation status of a particular gene, which can affect its qualitative and/or quantitative expression.

The restoration of the epigenome, which is compatible with the totipotence found in the germline, requires two waves of epigenetic reprogramming: (a) during ontogenesis of primordial germ cells; and (b) during preimplantation embryonic development.209 Both reprogramming events are relevant to ART because they may affect gamete quality or be relevant to in vitro culture of human embryos. Werner T: Next-generation sequencing allows for deeper analysis and understanding of genomes and transcriptomes, including aspects of fertility. Reprod Fertil Dev 2011; 23: 75–80. Shenfield F, de Mouzon J, Pennings G et al: Cross border reproductive care in six european countries. Hum Reprod (Oxford, England) 2010; 25: 1361–1368. For PGD and PGS, there are three phases in which cells can be taken for genetic testing.119 Polar body biopsy (PB) involves the removal of the first and/or second PB, either simultaneously at the zygote stage or sequentially in the egg and then at the zygote stage. The main limitations of PB biopsy are that only maternal chromosomes are analyzed. Some centers only look at the first PB, but this will not give a complete picture, as errors can also occur during meiosis II. PB biopsy is the longest of all biopsy techniques, as all mature eggs must be biopsied, some of which do not move on to fertilization or cleavage. Pb biopsy provides the largest amount of samples to examine compared to other biopsy techniques, especially when both PBs are examined.120 This technique has been mainly developed in some countries (e.g. Germany) with legal restrictions on embryo selection. Perrin A, Coat C, Nguyen MH et al: Molecular cytogenetic and genetic aspects of globozoospermia: a review.

Andrologia 2013; 45:1–9. Halliday JL, Ukoumunne OC, Baker HW, et al: Increased risk of congenital blastogenesis malformations occurring during the first 4 weeks of pregnancy following assisted reproductive technologies. Hum Reprod (Oxford, England) 2010; 25: 59–65. The use of oligo/SNP networks and WES/WGS analyses will significantly increase the amount of genetic information available for each embryo. In this context, it should also be noted that the challenges of interpreting high-throughput genomic techniques will increase, as will the likelihood of detecting random outcomes.141 These rapid technological developments will require the development of new guidelines, interpretation algorithms and ethical frameworks (see section “Ethical issues related to assisted reproduction and reproductive genetics”). NIPT with cell-free fetal DNA and cell-free fetal RNA will improve the ability to verify PGD outcomes in pregnancy and may alter the demand for PGD/PGS in the future.142 Pinborg A, Loft A, Henningsen AK, Ziebe S: Does assisted reproduction treatment increase the risk of birth defects in offspring? Acta Obstet Gynecol Scand 2012; 91: 1245–1246. Reproductive health is of great value to the community.234 Infertility and an increased risk of genetic disease are serious health threats that deserve appropriate attention and action. The primary purpose of ART and genetics is to restore the reproductive confidence of couples facing these difficulties.1 Reproductive confidence can only be communicated to the public if: (1) evidence of potential risks is acquired; (2) provide couples with truthful and accurate information through reproductive or genetic counselling (as required); and (3) the quality of laboratory and clinical services is closely monitored through accreditation and the use of standard success rate assessment criteria. In 2004, the Public and Occupational Policy Committee1, 2, 3, 4 of the European Society for Human Genetics (ESHG)5 issued professional recommendations for the safe and reliable use of assisted reproductive technologies (ART) from a genetic perspective, as well as for the publication of guidelines on the acceptable objectives of ART-based treatment and its prioritisation in European health systems. It was therefore decided to contact the European Society of Human Reproduction and Embryology (ESHRE)6 to carry out this work together. After several preparatory meetings of a working group were held from 31 March to 1 March. A joint ESHG/ESHRE meeting was held in Seville in April 2005 and an article summarizing the meeting was published,1 along with joint recommendations endorsed by esHG and ESHRE in both society journals3, 7 and an editorial.2 Genetic counseling prior to PGD is complex.117 This may be due to the combination of a significant family and genetic history and a complicated reproductive history.

often with the loss of previously affected children or several TOPs. Adequate information must be provided to make a decision, and some couples who have used PGD have stated that they want more information than they have been given.115 Experience of the disease in the family should be sought and acknowledged, as this can have a significant impact on the decision. It is also important to recognize that there may not be “right” or wrong decisions, especially when it comes to the decision-making conflicts associated with choosing PGD.116 Scott RT, Ferry K, Su J, Tao X, Scott K, Treff NR: Complete chromosomal screening is highly predictive of the reproductive potential of human embryos: a prospective blind non-selection study. Fertil Steril 2012; 97: 870–875. The consortium recently created guidelines in four individual documents that can be read and viewed together. Alternatively, each of them could also be used individually. The four topics covered include the organization of an PGD/PGS center, amplification-based PID, FISH-based PGD, and embryology related to PGS and PGS.119, 126, 127, 149 The consortium also produced a guide on the accreditation of PGD laboratories (Harper et al150; see section “Accreditation of laboratories in the field of reproductive genetics”).

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