Update on preimplantation genetic diagnosis for chromosomal abnormalities

2010 ◽  
Vol 10 (8) ◽  
pp. 973-976 ◽  
Author(s):  
Carmen Rubio
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis

Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities

2001 ◽  
Vol 21 (9) ◽  
pp. 781-787 ◽  
Author(s):  
Margareta Fridström ◽  
Lars Ährlund-Richter ◽  
Erik Iwarsson ◽  
Helena Malmgren ◽  
José Inzunza ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis

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.

scholarly journals Correlation of the sperm penetration assay (SPA) and miscarriage after assisted reproduction: The potential use of spa as a new criterion for preimplantation genetic diagnosis

2011 ◽  
Vol 63 (1) ◽  
pp. 107-116
Author(s):  
Jelena Gradistanac ◽  
Maria Wikarczuk ◽  
S.G. Somkuti ◽  
L.I. Barmat ◽  
Jay Schinfeld ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Sperm Quality ◽  
Genetic Diagnosis ◽  
Fetal Loss ◽  
Vitro Fertilization ◽  
Sperm Penetration ◽  
Sperm Penetration Assay ◽  
New Criterion

We analyzed 93 couples undergoing male screening with the Sperm Penetration Assay (SPA) before in vitro fertilization and intracytoplasmic sperm injection (ICSI), to determine the accuracy of SPA for subsequent embryonic development, incidence of pregnancy and miscarriage rates (SAB). ICSI patients with the lowest SPA scores had significantly higher incidences of Sthan did patients in the other SPA groups. Sperm quality is higher with better SPA scores. Poor sperm quality has increased incidence of chromosomal abnormalities and is associated with early fetal loss. Couples with negative SPA are candidates for preimplantation genetic diagnosis, to reduce the incidence of SAB.

Molecular cloning of translocation breakpoints in a case of constitutional translocation t(11;22)(q23;q11) and preparation of probes for preimplantation genetic diagnosis

1999 ◽  
Vol 11 (1) ◽  
pp. 17 ◽  
Author(s):  
Jingly Fung ◽  
Santiago Munné ◽  
Jaqueline Garcia ◽  
Ung-Jin Kim ◽  
Heinz-Ulli G. Weier
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Yeast Artificial Chromosome ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Artificial Chromosome ◽  
Preimplantation Embryos ◽  
Cytogenetic Map ◽  
Additional Time ◽  
Interphase Cell ◽  
Translocation Breakpoints

In vitro fertilization (IVF) centres with preimplantation genetic diagnosis (PGD) programmes are often confronted with the problem of identifying chromosomal abnormalities in interphase cells biopsied from preimplantation embryos of carriers of a reciprocal translocation. The present authors have developed a DNA testing based approach to analyse embryos from translocation carriers, and this report describes breakpoint-spanning probes to detect abnormalities in cases of the most common human translocation (i.e. the t(11;22)(q23;q11)). Screening a yeast artificial chromosome (YAC) library for probes covering the respective breakpoint regions in the patient lead to probes for the breakpoint on chromosome 11q23. The physically mapped YAC and bacterial artificial chromosome (BAC) clones from chromosome 22 were then integrated with the cytogenetic map, which allowed localization of the breakpoint on chromosome 22q11 to an interval of less than 84 kb between markers D22S184 and KI457 and to prepare probes suitable for interphase cell analysis. In summary, breakpoint localization could be accomplished in about 4 weeks with additional time needed to optimize probes for use in PGD.

scholarly journals The Impact of Biopsy on Human Embryo Developmental Potential during Preimplantation Genetic Diagnosis

2016 ◽  
Vol 2016 ◽  
pp. 1-10 ◽  
Author(s):  
Danilo Cimadomo ◽  
Antonio Capalbo ◽  
Filippo Maria Ubaldi ◽  
Catello Scarica ◽  
Antonio Palagiano ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Negative Impact ◽  
Polar Body ◽  
Genetic Diagnosis ◽  
Embryo Biopsy ◽  
Human Embryos ◽  
Developmental Potential ◽  
Monogenic Diseases ◽  
The Impact

Preimplantation Genetic Diagnosis and Screening (PGD/PGS) for monogenic diseases and/or numerical/structural chromosomal abnormalities is a tool for embryo testing aimed at identifying nonaffected and/or euploid embryos in a cohort produced during an IVF cycle. A critical aspect of this technology is the potential detrimental effect that the biopsy itself can have upon the embryo. Different embryo biopsy strategies have been proposed. Cleavage stage blastomere biopsy still represents the most commonly used method in Europe nowadays, although this approach has been shown to have a negative impact on embryo viability and implantation potential. Polar body biopsy has been proposed as an alternative to embryo biopsy especially for aneuploidy testing. However, to date no sufficiently powered study has clarified the impact of this procedure on embryo reproductive competence. Blastocyst stage biopsy represents nowadays the safest approach not to impact embryo implantation potential. For this reason, as well as for the evidences of a higher consistency of the molecular analysis when performed on trophectoderm cells, blastocyst biopsy implementation is gradually increasing worldwide. The aim of this review is to present the evidences published to date on the impact of the biopsy at different stages of preimplantation development upon human embryos reproductive potential.

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