| 1. |
|
|
| 2. |
- Aittomaki, K, et al.
(författare)
-
Genetics and assisted reproduction technology
- 2005
-
Ingår i: Acta Obstet Gynecol Scand. - : Wiley. ; 84:5, s. 463-473
-
Tidskriftsartikel (refereegranskat)abstract
- In the past 20 years, a significant improvement has been shown in the treatment for infertility in both women and men through the development of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Only donated sperm could be previously used for treatment; now oocytes can also be donated. Furthermore, the combination of IVF and ICSI with advanced genetic methods has made preimplantation genetic diagnosis possible for many genetic conditions. These methods enable genetic testing of the early human embryo by using only a single cell, one blastomere biopsied from the embryo, as the sample from which the diagnosis of many chromosome rearrangements and other inherited diseases can be made. It has also been established that a considerable proportion of infertility is caused by genetic defects, which have several implications for infertility treatment. The purpose of this review is to give a concise introduction on how genetics is involved in assisted reproduction technology to specialists who may not be working in this particular field of gynecology, but who would need some knowledge of this for proper care of their patients.
|
|
| 3. |
- Bergh, Christina, 1953, et al.
(författare)
-
Attitudes towards and management of single embryo transfer among Nordic IVF doctors
- 2007
-
Ingår i: Acta Obstetricia et Gynecologica Scandinavica. - : Wiley. - 0001-6349 .- 1600-0412. ; 86:10, s. 1222-1230
-
Tidskriftsartikel (refereegranskat)abstract
- Background. The objective of this study was to investigate the attitudes towards and management of single embryo transfer (SET) among Nordic in vitro fertilisation (IVF) doctors, and to present the rate of SET and multiple pregnancies in the different countries. Methods. A questionnaire was sent to all IVF doctors in the Nordic countries (n=198, 78.5% responded). Pregnancy rates, SET and multiple births rates were extracted from registries. Main outcome measure was attitudes and management of SET. Results. Almost all doctors thought that a twin pregnancy compared unfavourably to a singleton. A twin rate >10% was acceptable for 5% of Swedish doctors. Corresponding figures for Finnish, Danish and Norwegian doctors were 21, 35 and 35%, respectively. For a woman <36 years, performing her first cycle and with two good quality embryos, almost all doctors would recommend SET. For a woman =36 years in a similar situation, SET would be recommended only in Sweden and Finland. The pregnancy rate per embryo transfer (ET), the SET rate 2003, the multiple birth rate, and the estimated SET rate 2004 were 33.3, 21.5, 22.7 and 25% (Denmark), 31.3, 43.4, 14 and 51% (Finland), 40.5, 10.5, 26.5 and 16% (Iceland), 30.6, 18, 25.2 and 26% (Norway), and 35.3, 55.1, 11.8 and 71% (Sweden). Conclusions. The SET and multiple birth rates reflect the attitudes of Nordic IVF doctors to SET and multiple births well. When introducing SET, the attitude of the IVF doctor seems to be important. © 2007 Taylor & Francis.
|
|
| 4. |
|
|
| 5. |
- Wennerholm, Ulla-Britt, 1948, et al.
(författare)
-
Children born after cryopreservation of embryos or oocytes: a systematic review of outcome data
- 2009
-
Ingår i: Hum Reprod. ; 24:9, s. 2158-72
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: An estimated 3.5 million children have been born to date using assisted reproduction technologies. We reviewed the data in order to evaluate current knowledge of medical outcome for IVF/ICSI children born after cryopreservation, slow freezing and vitrification of early cleavage stage embryos, blastocysts and oocytes. METHODS: A systematic review was performed. We searched the PubMed, Cochrane and Embase databases from 1984 to September 2008. Inclusion criteria for slow freezing of early cleavage stage embryos were controlled studies reporting perinatal or child outcomes. For slow freezing and vitrification of blastocysts and oocytes, and vitrification of early cleavage stage embryos, case reports on perinatal or child outcomes were also included. Three reviewers independently read and evaluated all selected studies. RESULTS: For early cleavage embryos, data from controlled studies indicated a better or at least as good obstetric outcome, measured as preterm birth and low birthweight for children born after cryopreservation, as compared with children born after fresh cycles. Most studies found comparable malformation rates between frozen and fresh IVF/ICSI. For slow freezing of blastocysts and for vitrification of early cleavage stage embryos, blastocysts and oocytes, limited neonatal data was reported. We found no long-term child follow-up data for any cryopreservation technique. CONCLUSION: Data concerning infant outcome after slow freezing of embryos was reassuring. Properly controlled follow-up studies of neonatal outcome are needed after slow freezing of blastocysts and after vitrification of early cleavage stage embryos, blastocysts and oocytes. In addition, child long-term follow-up studies for all cryopreservation techniques are essential.
|
|
| 6. |
|
|
| 7. |
- Couch, Fergus J., et al.
(författare)
-
AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: A consortium of investigators of modifiers of BRCA1/2 study
- 2007
-
Ingår i: Cancer Epidemiology Biomarkers & Prevention. - 1538-7755. ; 16:7, s. 1416-1421
-
Tidskriftsartikel (refereegranskat)abstract
- The AURKA oncogene is associated with abnormal chromosome segregation and aneuploidy and predisposition to cancer. Amplification of AURKA has been detected at higher frequency in tumors from BRCA1 and BRCA2 mutation carriers than in sporadic breast tumors, suggesting that overexpression of AURKA and inactivation of BRCA1 and BRCA2 cooperate during tumor development and progression. The F31I polymorphism in AURKA has been associated with breast cancer risk in the homozygous state in prior studies. We evaluated whether the AURKA F31I polymorphism modifies breast cancer risk in BRCA1 and BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2. Consortium of Investigators of Modifiers of BRCA1/2 was established to provide sufficient statistical power through increased numbers of mutation carriers to identify polymorphisms that act as modifiers of cancer risk and can refine breast cancer risk estimates in BRCA1 and BRCA2 mutation carriers. A total of 4,935 BRCA1 and 2,241 BRCA2 mutation carriers and 11 individuals carrying both BRCA1 and BRCA2 mutations was genotyped for F31I. Overall, homozygosity for the 311 allele was not significantly associated with breast cancer risk in BRCA1 and BRCA2 carriers combined [hazard ratio (HR), 0.91; 95% confidence interval (95% CI), 0.77-1.061. Similarly, no significant association was seen in BRCA1 (HR, 0.90; 95% Cl, 0.75-1.08) or BRCA2 carriers (HR, 0.93; 95% CI, 0.67-1.29) or when assessing the modifying effects of either bilateral prophylactic oophorectomy or menopausal status of BRCA1 and BRCA2 carriers. In summary, the F31I polymorphism in AURKA is not associated with a modified risk of breast cancer in BRCA1 and BRCA2 carriers.
|
|
| 8. |
- Johansson, Ann-Sofie, 1967-, et al.
(författare)
-
Germ line insertions of moloney murine leukemia virus in the TLL mouse causes site-specific differences in lymphoma/leukemia frequency and tumor immunophenotype
- 2006
-
Ingår i: Anticancer Research. - 0250-7005 .- 1791-7530. ; 26:4B, s. 2873-2878
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Moloney murine leukemia virus (Mo-MLV) has proven valuable for studies of the pathogenesis of malignant lymphoma. Inoculation of newborn mice induces T cell lymphoma with 100% incidence. The TLL (T cell lymphoma/leukemia)-strain was previously established and was shown to spontaneously develop T cell lymphoma at high frequency. Materials and Methods: Differential screening of cDNA libraries was performed to discover an involvement of Mo-MLV and genomic sequencing was used to identify the chromosomal position of Mo-MLV proviral integration sites. Immunophenotypes of the tumors were established by flow cytometry. Disease frequency curves were created according to the Kaplan-Meier method. Results: Two independent Mo-MLV germ line integrations were characterized on chromosomes 2 and 14, giving rise to two substrains of mice denoted TLL-2 and TLL-14. The chromosomal position of the integrated provirus affected the frequency of disease, as well as the immunophenotype of the tumors. Conclusion: The data suggest that factors influencing the transcriptional activity of the chromosomal regions, leading to differences in proviral expression, could underlie the observed difference in tumor frequency.
|
|
| 9. |
|
|
