scholarly journals Meiotic Behaviour of Chromosomes Involved in Structural Chromosomal Abnormalities Determined by Preimplantation Genetic Diagnosis

10.5772/30359 ◽  
2012 ◽  
Author(s):  
L. Xanthopoulou ◽  
H. Ghevari
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Chromosomal Abnormalities ◽  
Genetic Diagnosis ◽  
Meiotic Behaviour

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.

scholarly journals Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis

2010 ◽  
Vol 3 (1) ◽  
pp. 2 ◽  
Author(s):  
Leoni Xanthopoulou ◽  
Anna Mantzouratou ◽  
Anastasia Mania ◽  
Suzanne Cawood ◽  
Alpesh Doshi ◽  
...  
Keyword(s):  
Preimplantation Genetic Diagnosis ◽  
Genetic Diagnosis ◽  
Meiotic Behaviour ◽  
Male And Female

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.

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