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.

141 BIOPSY TECHNIQUE IN BOVINE EMBRYOS PRODUCED IN VITRO AT EARLY STAGES OF DEVELOPMENT: EVALUATION OF QUALITY AND DEVELOPMENT CAPACITY

2008 ◽  
Vol 20 (1) ◽  
pp. 151
Author(s):  
J. Polisseni ◽  
M. O. Guerra ◽  
R. V. Serapião ◽  
M. M. Pereira ◽  
I. M. Folhadella ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Embryo Quality ◽  
Genetic Diagnosis ◽  
Blastocyst Stage ◽  
Chromosome Abnormalities ◽  
Control Group ◽  
Bovine Embryos ◽  
Blastocyst Rate ◽  
Number Of Cells

One of the causes of embryo mortality is chromosome abnormalities that occur during gametogenesis, fertilization, and embryo early development. Thus, a combination of morphological standards and techniques of molecular analyses could identify abnormal embryos. Preimplantation genetic diagnosis (PGD) is an emergent technology for use with farm animal embryos. With this procedure, blastomeres are removed by the biopsy of embryos at the 8- to 16-cell stage to provide cells for analyses of chromosome abnormalities prior to transfer. The aim of this study was to evaluate the effect of biopsy in bovine 8- to 16-cell embryos fertilized in vitro on embryo quality and subsequent development in vitro. A group of 706 oocytes were obtained from slaughterhouse ovaries, matured, and fertilized in vitro at 38.8�C with 95% humidified air and 5% CO2. The zygotes were semi-denuded and cultured in CR2aa medium under the same conditions as for in vitro fertilization. The rate of cleavage was 78.20%. Three days after fertilization, part of the 8- to 16-cell (298/706) embryos were distributed randomly across two groups: control (n = 103) and biopsy (n = 92) of blastomeres, and then returned to in vitro embryo culture to evaluate development until the blastocyst stage and the capacity to hatch. The amount of cells removed was one-fourth of the embryo. The blastocyst rate was evaluated on Day 8 after fertilization and the hatching rate on Day 10. Embryo morphology and quality were evaluated as previously described in the International Embryo Transfer Society manual (1998). To evaluate overall quality, embryos were stained on the 10th day of culture and the blastomeres were counted with the imaging software AxioVision 3.1 (Carl Zeiss, Feldbach, Switzerland). The blastocyst rate was analyzed by treatment groups with the chi-square test and the number of cells/embryo was analyzed by ANOVA with SAS (SAS Institute, Inc., Cary, NC, USA). The percentage of 8- to 16-cell embryos that developed to the blastocyst stage was similar (P > 0.05) between the control (66.0%, 68/103) and the biopsied (53.3%, 49/92) groups. Furthermore, no difference was noted in the hatching rates between the control group and the biopsied group (42.6%, 29/42 v. 44.9%, 22/49, respectively). Overall, no impact was detected on embryo quality from embryo biopsy with no difference in mean (�SE) blastocyst cell number between the control group (blastocysts: 67.1 � 3.1; expanded blastocysts: 100.7 � 6.9; hatched blastocysts: 189.9 � 16.1) and the biopsied group (blastocysts: 61.1 � 5.5; expanded blastocysts: 121.87 � 10.6; hatched blastocysts: 187.3 � 18.5). In conclusion, the biopsy used on 8- to 16-cell bovine IVF-derived bovine embryos does not affect the subsequent embryo development and number of cells/embryo or blastocyst, showing that it can be used to provide genetic material for preimplantation genetic diagnosis without affecting embryo quality. This work was supported financially by FAPEMIG.

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 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.

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.

Preimplantation Genetic Diagnosis in Patients Undergoing In Vitro Maturation (IVM) Cycles

2005 ◽  
Vol 84 ◽  
pp. S332-S333
Author(s):  
A. Ao ◽  
D. Kong ◽  
S. Jin ◽  
N. Dean ◽  
R. Chian ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
In Vitro Maturation ◽  
Genetic Diagnosis

Accuracy of preimplantation genetic diagnosis in equine in vivo-recovered and in vitro-produced blastocysts

2016 ◽  
Vol 28 (9) ◽  
pp. 1382 ◽  
Author(s):  
Y. H. Choi ◽  
M. C. T. Penedo ◽  
P. Daftari ◽  
I. C. Velez ◽  
K. Hinrichs
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Whole Genome Amplification ◽  
Genetic Diagnosis ◽  
Periodic Paralysis ◽  
Drop Out ◽  
Embryo Biopsy ◽  
Experimental Conditions ◽  
Polysaccharide Storage Myopathy

Preimplantation genetic diagnosis has great potential in the horse, but information on evaluation of equine embryo biopsy samples is limited. Blastocysts were biopsied using a Piezo drill and methods for whole-genome amplification (WGA) investigated. Results for 33 genetic loci were then compared between biopsy samples from in vitro-produced (IVP) and in vivo-recovered (VIV) blastocysts. Under the experimental conditions described, WGA using the Qiagen Repli-g Midi kit was more accurate than that using the Illustra Genomiphi V2 kit (98.2% vs 25.8%, respectively). Using WGA with the Qiagen kit, three biopsy samples were evaluated from each of eight IVP and 19 VIV blastocysts, some produced using semen from stallions carrying the genetic mutations associated with the diseases hereditary equine regional dermal asthenia (HERDA), hyperkalemic periodic paralysis (HYPP) or polysaccharide storage myopathy 1 (PSSM1). Three of 81 biopsy samples (3.7%) returned <50% accuracy. In the remaining 78 samples, overall accuracy was 99.3% (2556/2574 loci interrogated). Accuracy did not differ significantly between samples from IVP and VIV blastocysts. Allele drop-out in heterozygous loci was 1.6% (17/1035). Accuracy for sex determination was 100%; accuracy for heterozygosity for disease-causing mutations was 97.7% (43/44). In conclusion, Piezo-driven embryo biopsy with WGA has >95% overall accuracy in IVP and VIV embryos, and this technique is suitable for use in a clinical setting.

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