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.

scholarly journals Potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic diseases

1999 ◽  
Vol 5 (6) ◽  
pp. 1134-1139
Author(s):  
M. A. El Hazmi
Keyword(s):  
Prenatal Diagnosis ◽  
Preimplantation Genetic Diagnosis ◽  
Genetic Disorder ◽  
Genetic Diseases ◽  
Genetic Diagnosis ◽  
Potential Usefulness ◽  
Vitro Fertilization ◽  
Polar Bodies ◽  
Control And Prevention

Prenatal diagnosis of molecular mutations can be of immense value, since diagnosis followed by genetic counselling provides the most appropriate approach to genetic diseases control and prevention. However, ethical, psychosocial and religious considerations hamper adoption of prenatal diagnosis in communities where termination of a pregnancy may not be acceptable. Recently, preimplantation genetic diagnosis has attracted considerable interest. This involves in vitro fertilization, followed by genetic disorder diagnosis using polar bodies or cells extracted from a blastomere stage. The normal blastomere is implanted in the womb and pregnancy proceeds naturally. If an abnormality is diagnosed, the blastomere is not implanted, thus preventing pregnancy with the affected fetus. This paper outlines the potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic disease in our part of the world

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.

Preimplantation genetic diagnosis

2002 ◽  
Vol 10 (1) ◽  
pp. 3-20
Author(s):  
JDA Delhanty ◽  
JC Harper
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Recurrent Miscarriage ◽  
Pregnancy Termination ◽  
Genetic Disorder ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Early Embryo ◽  
Knowing That

The aim of preimplantation genetic diagnosis (PGD) is to give couples at risk of passing on a genetic disorder an alternative to standard prenatal diagnosis by enabling them to start a pregnancy that is known to be free of the familial disease. This can be achieved by generating embryos in vitro by standard in vitro fertilization (IVF) techniques and then removing one to two of the cells from the early embryo (embryo biopsy). Single cell polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH) can then be used to diagnose single gene defects or chromosomal abnormalities respectively. Those embryos diagnosed as free from disease can then be considered for transfer to the womb and so the pregnancy is started knowing that the fetus is unaffected. This avoids the need to consider pregnancy termination in the quest for a healthy child. Originally it was thought that the major reason for referral would be the risk of passing on a single abnormal gene but an increasing proportion of couples are requesting PGD because of recurrent miscarriage due to parental chromosomal abnormality.

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.

scholarly journals FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome

2017 ◽  
Vol 19 ◽  
Author(s):  
Indhu-Shree Rajan-Babu ◽  
Mulias Lian ◽  
Felicia S.H. Cheah ◽  
Min Chen ◽  
Arnold S.C. Tan ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Preimplantation Genetic Diagnosis ◽  
Haplotype Analysis ◽  
Fragile X ◽  
Genetic Diagnosis ◽  
In Vitro Fertilisation ◽  
Marker Haplotype ◽  
Cgg Repeat ◽  
Robust Detection

Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification. The assay was optimised and validated on single lymphoblasts isolated from fragile X reference cell lines, and applied to a simulated PGD case and a clinical in vitro fertilisation (IVF)-PGD case. In the simulated PGD case, definitive diagnosis of the expected results was achieved for all ‘embryos’. In the clinical IVF-PGD case, delivery of a healthy baby girl was achieved after transfer of an expansion-negative blastocyst. FMR1 TP-PCR reliably detects presence of expansion mutations and obviates reliance on informative normal alleles for determining expansion status in female embryos. Together with multi-marker haplotyping and gender determination, misdiagnosis and diagnostic ambiguity due to allele dropout is minimised, and couple-specific assay customisation can be avoided.

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 A Decade of Molecular Preimplantation Genetic Diagnosis of 350 Blastomeres for Beta-Thalassemia Combined with HLA Typing, Aneuploidy Screening and Sex Selection in Iran

2021 ◽  
Author(s):  
Yeganeh Keshvar ◽  
Solmaz Sabeghi ◽  
Zohreh Sharifi ◽  
Kiyana Sadat Fatemi ◽  
Panti Fouladi ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Tandem Repeats ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Causative Mutation ◽  
Beta Thalassemia ◽  
Aneuploidy Screening ◽  
Cell Stage

Abstract Background: Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy which is usually done on blastomeres biopsied from 8-cell stage embryos obtained from in vitro fertilization method (IVF).Here we report molecular PGD results for diagnosing of beta thalassemia (beta-thal) which are usually accompanied with evaluating chromosomal aneuploidies, HLA typing and sex selection.Methods: In this study, haplotype analysis was performed using short tandem repeats (STRs) in a multiplex nested PCR and the causative mutation was detected by Sanger sequencing.Results: We have performed PGDs on 350 blastomeres from 55 carrier couples; 142 blastomeres for beta-thal only, 75 for beta-thal and HLA typing, 76 for beta-thal in combination with sex selection, and 57 for beta-thal and aneuploidy screening. 150 blastomeres were transferable, 15 pregnancies were happened, and 11 babies born.We used 6 markers for beta-thal, 36 for aneuploidy screening, 32 for sex selection, and 35 for HLA typing. To our knowledge combining all these markers together and the number of STR markers are much more than any other studies which have ever done.Conclusions: PGD is a powerful diagnostic tool for carrier couples who desire to have a healthy child and wish to avoid medical abortion.

scholarly journals Terhesség és szülés trophectoderma-biopsziát követően vitrifikált blasztociszták beültetésével

2015 ◽  
Vol 156 (44) ◽  
pp. 1787-1792
Author(s):  
Szabolcs Mátyás ◽  
Tünde Varga ◽  
Péter Kovács ◽  
Márton Kónya ◽  
Klára Rajczy ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Genetic Diagnosis ◽  
In Vitro Fertilisation ◽  
Trophectoderm Biopsy ◽  
Chain Reaction ◽  
Singleton Pregnancy ◽  
Monogenic Disorder ◽  
Genetic Examination

Application of preimplantation genetic diagnosis makes it possible to transfer only embryos unaffected by a certain genetic disorder. The authors have applied the combination of trophectoderm biopsy and vitrification in order to detect a monogenic disorder. Previously diagnosed type 1 neurofibromatosis of the woman was the indication for genetic examination. In vitro fertilisation and embryo culture was performed using sequential culture mediums. Seven blastocysts could be sampled on the fifth day and were vitrified subsequently. Two blastocysts turned out to be genetically normal based on the result of genetic examination using polimerase chain reaction. A healthy boy was delivered following the transfer of warmed blastocysts and an uneventful singleton pregnancy. Orv. Hetil., 2015, 156(44), 1787–1792.

Problems and prerequisites for determining the legal regime preimplantation genetic diagnosis in Russian legislation

2019 ◽  
Author(s):  
N.A. Altinnik , S.S. Zenin , V.V. Komarova et all ,
Keyword(s):  
In Vitro Fertilization ◽  
Preimplantation Genetic Diagnosis ◽  
Human Embryo ◽  
Legal Status ◽  
Genetic Diagnosis ◽  
Legal Regime ◽  
Vitro Fertilization

Сurrent problems and prerequisites for the formation of the legal regime of pre-implantation genetic diagnosis (PGD) are considered in Russian legislation with account the existing approaches to determining the legal status of a “pre-implantation” embryo obtained in the framework of the in vitro fertilization procedure (IVF) are discussed. The authors substantiates the conclusion that it is necessary to legally determine PGD as one of the stages of using IVF, as well as establishing generally binding requirements for the procedure, conditions and features of this diagnosis, taking into account the need to minimize the damage caused to the human embryo.

scholarly journals Preimplantation Genetic Diagnosis—An Overview

2005 ◽  
Vol 53 (3) ◽  
pp. 255-260 ◽  
Author(s):  
Caroline Mackie Ogilvie ◽  
Peter R. Braude ◽  
Paul N. Scriven
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Sex Selection ◽  
Hla Typing ◽  
Success Rates ◽  
Aneuploidy Screening ◽  
Reciprocal Translocations ◽  
Public Controversy ◽  
Polar Bodies ◽  
Monogenic Diseases

Since the early 1990s, preimplantation genetic diagnosis (PGD) has been expanding in scope and applications. Selection of female embryos to avoid X-linked disease was carried out first by polymerase chain reaction, then by fluorescence in situ hybridization (FISH), and an ever-increasing number of tests for monogenic diseases have been developed. Couples with chromosome rearrangements such as Robertsonian and reciprocal translocations form a large referral group for most PGD centers and present a special challenge, due to the large number of genetically unbalanced embryos generated by meiotic segregation. Early protocols used blastomeres biopsied from cleavage-stage embryos; testing of first and second polar bodies is now a routine alternative, and blastocyst biopsy can also be used. More recently, the technology has been harnessed to provide PGD-AS, or aneuploidy screening. FISH probes specific for chromosomes commonly found to be aneuploid in early pregnancy loss are used to test blastomeres for aneuploidy, with the aim of replacing euploid embryos and increasing pregnancy rates in groups of women who have poor IVF success rates. More recent application of PGD to areas such as HLA typing and social sex selection have stoked public controversy and concern, while provoking interesting ethical debates and keeping PGD firmly in the public eye.

Sign in / Sign up

Export Citation Format

Share Document