scholarly journals Designer babies. A question of ethics

2009 ◽  
Vol 58 (6) ◽  
Author(s):  
Justo Aznar
Keyword(s):  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
In Vitro Fertilisation ◽  
Medical Problems ◽  
Ethical Problems ◽  
Sono Stati ◽  
Reproductive Techniques ◽  
Diagnosis Technique

Il termine “designer baby” può essere usato per riferirsi ad una serie di tecniche incluse quelle di selezione del sesso per evitare la nascita di bambini con malattie legate al cromosoma sessuale X, la diagnosi genetica preimpiantatoria per selezionare gli embrioni non affetti da disordini genetici, e il potenziamento di caratteristiche come l’intelligenza, le abilità sportive e la bellezza. La produzione di “designer babies” comporta problemi medici ed etici. In questo articolo passiamo in rassegna in particolar modo i secondi. Secondo la nostra opinione, gli aspetti più interessanti sono: 1. la strumentalizzazione dei bambini prodotti; 2. le possibilità che queste tecniche possono aprire le porte ad altre eticamente non adeguate; 3. il possibile beneficio dei genitori; 4. l’impossibilità di ottenere il consenso dei bambini; 5. i problemi clinici che l’utilizzazione della diagnosi genetica preimplantatoria può produrre; 6. quelli della fecondazione in vitro; 7. il grande numero di embrioni che vengono distrutti a seguito dell’uso di queste tecniche; 8. infine l’esistenza o meno di alternative mediche per la produzione dei “designer babies”. Il nostro parere è che uno dei problemi etici più importanti è rappresentato dal gran numero di embrioni che si perdono nella produzione dei “designer babies”. Nel caso di Adam Nash si usarono, infatti, 33 embrioni per produrre un solo bambino, con un’efficienza del 3%. In uno studio nel quale sono stati valutati i dati delle principali cliniche di medicina riproduttiva del mondo emerge che sono stati utilizzati 1130 embrioni per far nascere 35 bambini, con un’efficienza dell’1,15%. ---------- The term “designer babies” may be used to refer to a range of reproductive techniques including the use of sex selection techniques to prevent the birth of children with X-linked diseases, preimplantation genetic diagnosis to select for embryos free from genetic disorders, selection techniques for eggs, sperm or embryo donors with particular characteristics, and the enhancement of features such as intelligence, sporting ability or attractiveness. The production of designer babies entails specific medical and ethical problems. In this article, we will essentially address the latter. In our opinion, the most important aspects to consider in an ethical reflection on the production of designer babies are: 1. the instrumentalisation of the child produced in such a way that these children would be treated as commodities; 2. the secondary consequences that could result from the legal authorisation of this technique could open the door to other ethically unsuitable techniques, especially sex selection, 3. the benefit that the parents may obtain; 4. the impossibility of obtaining the consent of the child him/herself; 5. the medical problems that the use of the preimplantational genetic diagnosis technique may cause in the embryo generated; 6. as well as those inherent in the in-vitro fertilisation technique; 7. the negative ethical burden involved in the high number of embryos lost with this practice, i.e. the high number of human lives destroyed; 8. and finally, whether or not a medical alternative to the production of designer babies exists, since if so, their generation would be doubly unjustified. We think that one of the most important ethical problems is the high number of embryos lost in the production of designer babies. Thus, it can be verified that in the case of the first designer baby, Adam Nash, 33 embryos were used to obtain a useful child, so the efficiency was approximately 3%. In a study which collected the joint data from some of the leading reproductive medicine clinics in the world in which designer babies are produced, is showed that from 1130 embryos, only 35 designer babies were obtained, which indicates that the efficiency of production of these children was 1.15%.

scholarly journals ASPEK ETIK PEMILIHAN JENIS KELAMIN DALAM PROSES PRE-IMPLANTATION GENETIC DIAGNOSIS PADA REKAYASA REPRODUKSI IN VITRO FERTILITATION

2019 ◽  
Vol 2 (2) ◽  
pp. 473-487
Author(s):  
Budi Santoso
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
In Vitro Fertilisation

Perkembangan ilmu pengetahuan dan teknologi begitu pesatnya, denganilmu   yang   dimiliki   oleh   manusia,   sudah   banyak   masalah   yang   berhasil dipecahkan. Perkembangan teknologi tersebut menjangkau segala hal, termasuk bidang kesehatan. Etika kedokteran juga sangat berhubungan dengan hukum. Hampir di semua negara ada hukum yang secara khusus mengatur bagaimana dokter harus bertindak dalam perawatan pasien dan penelitian. Kemajuan ilmu pengetahuan dan teknologi medis memunculkan masalah etis baru yang tidak dapat dijawab oleh etika kedokteran tradisional. Bagi pasangan atau pribadi yang tidak bisa menjadi hamil secara alami ada berbagai teknik reproduksi dengan bantuan seperti inseminasi buatan dengan fertilisasi in vitro dan transfer embrio, yang mudah didapat di pelayanan kesehatan reproduksi.  Fertilisasi in vitro atau pembuahan in vitro (bahasa Inggris: in vitro fertilisation, IVF), atau sering disebut bayi tabung, adalah suatu proses pembuahan sel telur oleh sel sperma di luar tubuh sang wanita: in vitro ("di dalam gelas kaca"). Melalui teknologi preimplantation genetic diagnosis  (PGD),  tak  hanya  penyakit  keturunan  bisa dieliminasi, tapi jenis kelamin janin pun dapat dipilih. Pemilihan jenis kelamin (sex-selection) merupakan salah satu bentuk pengaplikasian dari teknologi rekayasa genetika yang berkembang cukup pesat saat ini. Di sini akan muncul pertanyaan apakah etis seseorang (orang-tua) menentukan jenis kelamin orang lain (anaknya) dengan sengaja? Di balik keberhasilan program bayi tabung, terdapat pula banyak masalah moral dan etika. Banyak pihak ynag beranggapan bahwa penelitian  bayi tabung bermain main dengan kehidupan manusia karena telah mencampuri proses sacral dari penciptaan manusia yang merupakan hak prerogative Tuhan yang pencipta. Teknologi bayi tabung memberikan peluang kepada para pasangan untuk dapat mengetahui jenis kelamin dan kelainan genetik yang mungkin terjadi pada embrio, sehingga dapat menghindari kemungkinan implantasi embrio cacat. Seleksi kelamin atas indikasi medis dengan tujuan menghindari   terjadinya   sex   linked   genetic   disorder   ,   misalnya   penyakit hemophilia dapat dibenarkan. Namun untuk indikasi nonmedik masih terdapat perbedaan pendapat. Seleksi kelamin ini tentunya menimbulkan perdebatan dari segi hukum, etika, dan social. Untuk indikasi nonmedik ini, ada yang setuju dan ada yang tidak setuju dengan seleksi kelamin. Jika sex-selection diperbolehkan secara   bebas,   sex-selection   hanya   akan   menjadi   industrialisasi   di   dunia kedokteran, karena akan menjadi semakin marak, dan chaos yang lebih banyak akan muncul.

Creating Life

2021 ◽  
pp. 53-77
Author(s):  
Courtney S. Campbell
Keyword(s):  
Stem Cell ◽  
Stem Cell Research ◽  
Moral Agency ◽  
Human Life ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Vitro Fertilization ◽  
Genetic Technologies ◽  
And Gender

This chapter considers ecclesiastical teaching and personal experience regarding new reproductive technologies, such as in vitro fertilization, repro-genetic options, such as preimplantation genetic diagnosis, and stem cell research ethics. The principal argument is that the ethics of medical technologies used to treat and provide remedies for infertility turns primarily on questions of moral agency, familial integrity, and medical professionalism, including safety and efficacy. The Church of Jesus Christ of Latter-day Saints (LDS) procreative imperative can make the experience of infertility a wrenching personal ordeal that necessitates re-storying personal and gender identities relative to spiritual entrustment. Repro-genetic technologies find a moral point through disease prevention but are ethically controversial when their intent is for nonmedical purposes, such as sex selection or enhanced capacities. Despite firm convictions about the sanctity of human life, LDS teaching shows surprising acceptance regarding use of embryos for stem cell research.

scholarly journals MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Rong Yu ◽  
Lv Liu ◽  
Ya-Li Li ◽  
Liang-Liang Fan
Keyword(s):  
Hearing Loss ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Han Chinese ◽  
White Hair ◽  
Chinese Family ◽  
Waardenburg Syndrome ◽  
Genetic Lesion

Waardenburg syndrome (WS) is a group of rare genetic disorders characterized by hearing loss, changes in coloring of hair, skin, and eyes, and alterations in the shape of the face. Tietz syndrome is another rare disorder which presented similar phenotypes to WS. Patients with Tietz/Waardenburg syndrome often present with pale blue eyes, albino skin, and distinctive hair coloring, such as a patch of white hair or hair that prematurely turns gray. At present, more than six candidate genes are responsible for four types of Waardenburg syndrome and Tietz syndrome. This study is aimed at identifying the pathogenic gene variants in a three-generation Han Chinese family with hearing loss, blue-gray iris, albino skin, and white hair. In order to discover the molecular genetic lesion underlying the disease phenotype, whole exome sequencing in the proband, with Tietz/Waardenburg syndrome phenotypes, of a Han Chinese family from HeBei, China, was conducted. A novel heterozygous c.650G>C/p.Arg217Thr variant in melanocyte inducing transcription factor (MITF) was identified. Sanger sequencing further validated that this mutation existed in three affected individuals and absent in healthy family members. Bioinformatics analysis predicted that this mutation was deleterious. Our study further identified the genetic lesion of the family. Simultaneously, our study may also contribute to genetic counseling, embryonic screening of in vitro fertilized embryos, and prenatal genetic diagnosis of patients with Tietz/Waardenburg syndrome, especially for the proband, unmarried and unpregnant women, to reduce familial transmission in this Han Chinese family.

Association of pronuclear Z score with rates of aneuploidy in in vitro-fertilised embryos

2005 ◽  
Vol 17 (5) ◽  
pp. 529 ◽  
Author(s):  
W. R. Edirisinghe ◽  
R. Jemmott ◽  
C. Smith ◽  
J. Allan
Keyword(s):  
Growth Rate ◽  
Preimplantation Genetic Diagnosis ◽  
Scoring System ◽  
Embryo Quality ◽  
Genetic Diagnosis ◽  
In Vitro Fertilisation ◽  
Z Score ◽  
Two Stage ◽  
Biopsy Rate

The present study aimed to correlate the Z-scoring system to outcomes in in vitro fertilisation (IVF) cycles performed in conjunction with preimplantation genetic diagnosis. In 178 cycles, a total of 468 pronuclear embryos was scored prospectively using the Z score before culture and biopsy on Day 3 to detect chromosomes 13, 16, 18, 21, 22, X and Y. The results showed significant differences between Z1 and Z4 scoring embryos, with Z1 giving an increased biopsy rate (83.3% v. 51.1%), embryo quality (≥fair: 83.3% v. 57.8%) and embryo growth rate (≥six cells: 87.0% v. 44.4%). The incidence of chromosomally normal embryos decreased from Z1 to Z4 (Z1: 40%; Z2: 29.7%; Z3: 22.7%; Z4: 13.6%; P < 0.04). Thus, the Z scoring, mainly Z1 and Z4, correlated significantly with the expected embryo outcomes and preimplantation genetic diagnosis findings. Further improvement of pronuclear scoring with the use of a two-stage assessment is proposed.

scholarly journals Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiang Li ◽  
Yiting Wang ◽  
Yijun Pan ◽  
Jia Wang ◽  
Weishi Yu ◽  
...  
Keyword(s):  
Intron Retention ◽  
Genetic Disorders ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Aberrant Splicing ◽  
Genetic Test Results ◽  
Functional Consequences ◽  
Intronic Variants

Abstract Background Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Studies showed that some aberrant splicing variants, which are either not readily detectable by WES or could be miss-interpreted by regular detecting pipelines, are highly relevant to human diseases. Methods We retrospectively investigated the negative molecular diagnostics through trio-WES for 15 genetically undiagnosed patients whose clinical manifestations were highly suspected to be genetic disorders with well-established genotype–phenotype relationships. We scrutinized the synonymous variants from WES data and Sanger sequenced the suspected intronic region for deep intronic variants. The functional consequences of variants were analyzed by in vitro minigene experiments. Results Here, we report two abnormal splicing events, one of which caused exon truncating due to the activation of cryptic splicing site by a synonymous variant; the other caused partial intron retention due to the generation of splicing sites by a deep intronic variant. Conclusions We suggest that, despite initial negative genetic test results in clinically highly suspected genetic diseases, the combination of predictive bioinformatics and functional analysis should be considered to unveil the genetic etiology of undiagnosed rare diseases.

scholarly journals The Ethics of Pre-implantation Genetic Diagnosis: An Opinion Piece Examining the Moral Distinction Between Positive and Negative Selection of Traits Using PGD

2016 ◽  
Vol 3 (1) ◽  
pp. 28-39
Author(s):  
Helena Bleeker
Keyword(s):  
In Vitro Fertilization ◽  
Negative Selection ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Genetic Profile ◽  
Vitro Fertilization ◽  
Moral Distinction ◽  
Leon Kass ◽  
Selection Of

Pre-implantation genetic diagnosis (PGD) follows in vitro fertilization (IVF) of several ova. Negative selection (NS), or the discarding of embryos containing undesirable alleles, is currently being performed in IVF clinics. Conversely, positive selection (PS) is the discarding of embryos that do not contain a desirable allele. In other words, PS keeps an embryo because it contains a desirable genetic profile. There are many groups that support NS but there are far fewer who support PS. The bioconservative philosophy, led by philosophers such as Leon Kass, opposes PS and bioliberalism in general. Conversely, NS (and PS) of embryos resonates best of all with the bioliberalism philosophy. More specifically, a subset of bioliberalism, called transhumanism. In order to find NS morally permissible and PS morally unacceptable, one must support one’s position by making a moral distinction between the two types of selection. The major claims against PS include that it is not medically serious, that it propagates eugenics, that it propagates sex selection and that it elicits a moral repugnance which proves its immorality. In analyzing these arguments, I hope to show that none of them are consistent in their application, and that their inability to be applied universally significantly weakens their case. 

scholarly journals La diagnosi pre-impiantatoria Lo stato dell’arte scientifico e gli interrogativi etici - Parte II

2007 ◽  
Vol 56 (4) ◽  
Author(s):  
Jacques Suaudeau
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Point Of View ◽  
Human Embryos ◽  
False Negatives ◽  
Screening Process ◽  
Reproductive Techniques ◽  
Artificial Fertilization ◽  
Early Human

La diagnosi genetica pre-impiantatoria (Preimplantation genetic diagnosis o PGD) è una tecnica nella quale gli embrioni umani prodotti in vitro per realizzare le tecniche di fecondazione artificiale, vengono selezionati, dal punto di vista genetico, tramite lo studio di uno o di due blastomeri prelevati con una biopsia. Dai reports relativi all’uso della PGD emergono tre punti critici: il primo riguarda le conseguenze della biopsia sullo sviluppo dell’embrione; il secondo la notevole perdita di embrioni nel processo; il terzo l’esattezza diagnostica, con la presenza di falsi positivi e falsi negativi. Oltre al fatto che la PGD è legata alle tecniche di fecondazione artificiale, e, in particolare, alla ICSI, da un punto di vista etico l’obiezione di fondo è che tale pratica si basa su una scarsa considerazione del valore dell’embrione umano. L’aumento della pratica della PGD e l’estensione delle sue indicazioni a casi sempre meno gravi e meno giustificabili dal punto di vista medico è preoccupante. ---------- Preimplantation genetic diagnosis (PGD) is a technique in which early human embryos, obtained in vitro to realize artificial fertilization techniques, are genetically screened for selection, through the study of one or two blastomeres taken by biopsy. Reports on the use of PGD in the world make clear that there are three critical points in it: first regards with consequences of biopsy on developing embryo; second in consideration of the important loss of human embryos in the screening process; third related to inaccuracy of diagnosis, with the presence of false positives and false negatives. Besides the fact that PGD is relate to artificial reproductive techniques, generally to ICSI, the basic ethical objection is based on an undervaluation of the value of human embryos. From a medical point of view the increasing use of PGD and the extension of its indications to cases always more futile and less justified is preoccupying.

scholarly journals The Power of Options: The Solution for Healthier Society and Better Economy

2017 ◽  
Vol 2 (4) ◽  
pp. 350
Author(s):  
Dr. Saleh A. S. AL-Abdulhadi
Keyword(s):  
Reproductive Medicine ◽  
Genetic Disorders ◽  
Genetic Diagnosis ◽  
Community Services ◽  
Human Oocyte ◽  
Genetic Composition ◽  
Vitro Fertilization ◽  
Genetic Abnormalities ◽  
New Frontier

<p><em>Preimplantation Genetic Diagnosis (PGD) testing is the practice of obtaining a cellular biopsy sample from a developing human oocyte or embryo, acquired via a cycle of In Vitro Fertilization (IVF); evaluating the genetic composition of this sample; and using this information to determine which embryos will be optimal for subsequent uterine transfer. PGD has become an increasingly useful adjunct to IVF procedures. The ability to provide couples who are known carriers of genetic abnormalities the opportunity to deliver healthy babies has opened a new frontier in reproductive medicine. The purpose of the PGD is enables us to choose which embryos will be implanted into the mother. In the present study we investigate the frequency of application of this technique in the kingdom and GCC to find out, the population awareness of these technique and the advantages which could apply to the community. We also interested to know frequencies of centers and studies in this field. This epidemiological study helps to improve social awareness and community services toward reducing frequencies of genetic disorders. </em></p>

Medically Assisted Procreation and International Human Rights Law

2013 ◽  
Vol 22 (1) ◽  
pp. 155-183
Author(s):  
Ilja Richard Pavone
Keyword(s):  
Human Rights ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Private Life ◽  
In Vitro Fertilisation ◽  
Special Focus ◽  
International Human Rights Law ◽  
Medically Assisted Procreation ◽  
Assisted Procreation

Since the birth of Louise Brown in 1978, the first human baby resulting from in vitro fertilisation (IVF), developments in reproductive medicine have opened up new opportunities to solve problems related to sterility/infertility and to avoid the transmission of serious genetic diseases to offspring. This article evaluates some challenges to human rights protection arising from medically assisted procreation (MAP), with particular reference to artificial insemination from a donor (AID) and preimplantation genetic diagnosis (PGD). It analyses the regulation of MAP at the international, regional and domestic level. Specific attention is paid to two landmark judgments of the European Court of Human Rights (ECtHR) on MAP (S.H. v. Austria and Costa and Pavan v. Italy), with a special focus on the interpretation of the concept of family and private life contained therein and on the effects of the ECtHR rulings on the Italian legal order. It concludes that national legislation concerning MAP should be minimal, i.e. should afford substantial freedom and autonomy to the couples in their procreative choices, in accordance with their right to respect for private and family life.

Preimplantation Genetic Diagnosis: The Situation in France and in Other European Countries

2017 ◽  
Vol 24 (2) ◽  
pp. 160-174 ◽  
Author(s):  
Anne-Marie Duguet ◽  
Bénédicte Boyer-Beviere
Keyword(s):  
Human Rights ◽  
Prenatal Diagnosis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
European Countries ◽  
In Vitro Fertilisation ◽  
Genetic Abnormality ◽  
Genetic Characteristics ◽  
European Court

Preimplantation genetic diagnosis (pgd) relates exclusively to in vitro fertilisation techniques (ivf) that aim to prevent transmission of a serious genetic abnormality to the child. The genetic characteristics of the embryo created through ivf are analysed, and only the embryos free of the genetic abnormality are implanted in the womb. Performed worldwide since 1990, this technique has raised many legal and ethical debates due to the very wide variations of lawgiving between countries. This is shown by the report of the unesco ibc (2003), which described the techniques and the issues raised by preimplantation genetic diagnosis. In this article, the authors present the differences between prenatal diagnosis and preimplantation genetic diagnosis, the French legislation, then the range of legislation in Europe and finally the position of the European Court of Human Rights which sanctioned Italy and Latvia for refusing access to pgd.

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