Disease relevance of Preimplantation Diagnosis

• Cystic fibrosis (CF) is the first monogenic disorder for which single cell preimplantation genetic diagnosis (PGD) has been successfully applied [1].
• The development of preimplantation genetic diagnosis for myotonic dystrophy using multiplex fluorescent polymerase chain reaction and its clinical application [2].
• Preimplantation genetic diagnoses (PGD) for single gene defects require considerable time and resources for the standardization of polymerase chain reactions that are rapid, sensitive and reliable [2].
• SETTING: The IVF program of Illinois Masonic Medical Center. PATIENTS: A couple requested preimplantation diagnosis because the mother is a carrier for hemophilia A [3].
• CONCLUSIONS: We are first to report a successful human liveborn, delivered after IVF with preimplantation genetic diagnosis for retinoblastoma [4].

Psychiatry related information on Preimplantation Diagnosis

• OBJECTIVE: To develop exclusion testing protocols for Huntington's disease (HD) linkage markers suitable for use in a clinical preimplantation genetic diagnosis (PGD) setting for couples in whom a partner was at 50% risk of inheriting HD, but who choose not to undergo presymptomatic mutation testing [5].

High impact information on Preimplantation Diagnosis

• Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation [6].
• Preimplantation diagnosis of CF is indicated [7].
• We have performed preimplantation genetic diagnosis for DM1 since 1995, which has given us the unique opportunity to study the expanded CTG repeat in affected embryos and in gametes from affected patients [8].
• Collectively, identification of mutations in the MRP6 gene provides the basis to examine the pathomechanisms of PXE and allows development of DNA-based carrier detection, prenatal testing, and preimplantation genetic diagnosis in families with a history of this disease [9].
• The demonstration of monoallelic expression in embryos means that efficient preimplantation diagnosis of PWS may be made by analysis for the presence or absence of SNRPN mRNA [10].

Chemical compound and disease context of Preimplantation Diagnosis

• The Victorian Infertility Treatment Authority has given permission to allow tissue typing in combination with preimplantation genetic diagnosis [11].

Biological context of Preimplantation Diagnosis

• The autosomal beta1 integrin knockout mouse mutation was selected as a model to experimentally determine preimplantation diagnosis test reliability for autosomal gene deletions and duplications [12].
• CONCLUSION: Polar body fluorescent in situ hybridization analysis may be used for preimplantation diagnosis of common aneuploidies in IVF patients of advanced maternal age [13].
• CONCLUSIONS: Preimplantation diagnosis by first- and second-polar body FISH analysis allows us to avoid the age-related risk of common aneuploidies in IVF patients of advanced maternal age [14].
• Preimplantation genetic diagnosis (PGD), the genetic testing of embryos developed through IVF is one of the fastest growing techniques in reproductive medicine and IVF [15].

Anatomical context of Preimplantation Diagnosis

• Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF [16].
• So much was at stake, including IVF, stem cells and preimplantation diagnosis to help millions of patients [17].
• PURPOSE: Preimplantation genetic diagnosis (PGD) is an important option for couples at risk of having children with beta-globin mutations to avoid selective abortions of affected fetuses following prenatal diagnosis [18].
• A couple with a previous history of pregnancy termination after being diagnosed positive for CMTX by chorionic villus sampling, was referred for preimplantation genetic diagnosis (PGD) [19].
• CONCLUSION(S): Preimplantation genetic diagnosis for HD using exclusion testing resulted in three live singleton births after six oocyte recovery procedures [5].

Associations of Preimplantation Diagnosis with chemical compounds

• The Human Fertilisation and Embryology Authority (HFEA) has made several sensible recommendations about sperm sorting and preimplantation genetic diagnosis for sex selection, but has not provided a convincing case for restricting all non-medical uses of sex selection techniques [20].

Gene context of Preimplantation Diagnosis

• CONCLUSION(S): This is the first preimplantation genetic diagnosis for PKD, which resulted in the birth of healthy twins confirmed to be free of PKD1 and PKD2 [21].
• Preimplantation genetic diagnosis (PGD) of DM has been successfully applied [22].
• Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'proof of principle' in acid sphingomyelinase-deficient mice [23].
• In contrast, allele-specific PCR for SMN1, despite some advantages in a rapid preimplantation diagnosis, quickly lost its specificity when 100 pg of genomic DNA was used [24].
• This paper reports on preimplantation genetic diagnosis (PGD) for CMT1A in five couples [25].

Analytical, diagnostic and therapeutic context of Preimplantation Diagnosis

• For HD carriers willing to create a family, prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD) based on the mutation identification can be offered [26].
• Dual fluorescent in-situ hybridization (FISH) using X and Y chromosome specific probes has been used to identify the sex of human embryos for preimplantation diagnosis of X-linked disease [27].
• The preimplantation diagnosis of X-linked diseases based upon Y chromosome sequence analysis is also discussed [28].
• PATIENT(S): Nine women with a mean (+/-SD) of 3.9 +/- 0.6 RMs who were undergoing IVF and preimplantation genetic diagnosis, and a control group of young (n = 10) and older (n = 6) patients who were undergoing preimplantation genetic diagnosis because of sex-linked diseases [29].
• It is appropriate to open a debate on the use of preimplantation genetic diagnosis with ICSI for severe male factor associated with Y-chromosome aberrations [30].

References