Advances in molecular biology techniques made possible genotype analysis from one or several cells. This can be used in preimplantation genetic diagnosis (PGD) not only of chromosomal aneuploidy but also of single gene diseases as well as hereditary cancer syndromes. PGD can be a benefit for those cases when the risk of transfer of pathological alteration from parent to offspring is unwelcome. We submit three cases of PGD with the results.

• MeSH
• dědičné nádorové syndromy genetika   MeSH
• fertilizace in vitro MeSH
• lidé MeSH
• preimplantační diagnóza * MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

BACKGROUNDS: Carriers of hereditary mutations in cancer susceptibility genes represent a limited but high-risk population characterized by a high probability of cancer development, frequently with its manifestation in early age and with a 50% chance of pathogenic allele inheritance by offspring. In case of monogenic disorders, preimplantation genetic diagnosis (PGD) could be used for characterization of the DNA region affected by pathogenic mutation in the early stages of an embryo created by in vitro fertilization (IVF). Therefore, the transfer of unaffected embryos could be performed based on the results of PGD genotyping, enabling the development of offspring not carrying the pathogenic alteration. AIM: Here we present the consensus of the collaborative group of the Society for Medical Genetics, the Czech Society for Oncology and other professionals for use of PGD in the Czech Republic for carriers of mutations in cancer susceptibility genes. We address the conditions, prerequisites, and limits of practical application of this method. We also point out specific issues of ovarian hyperstimulation in carriers of mutations in BRCA1, BRCA2, and p53, anticipating the increased risk of hormonally dependent breast and ovarian cancers development. CONCLUSIONS: We assume that a narrow but non-negligible subgroup of cancer susceptibility gene mutation carriers may benefit from PGD.They are mainly individuals deciding to undergo IVF and PGD recruited from mutation carriers with extreme concerns about transmitting the mutation to their children. The PGD in these individuals should be managed by a closely cooperating multidisciplinary team of professionals responsible for indication of PGD, giving complete information regarding the IVF and PGD procedures including their limits, evaluating individual risks and performing instrumental and laboratory procedures with respect to up-to-date good laboratory and clinical practice.

• MeSH
• fertilizace in vitro MeSH
• genetická predispozice k nemoci MeSH
• heterozygot * MeSH
• lidé MeSH
• nádory genetika   prevence a kontrola   MeSH
• preimplantační diagnóza * metody   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

AIM OF THE STUDY: To assess the PGD results in couples with robertsonian and reciprocal translocations. DESIGN: Retrospective study. SETTING: Sanatorium Pronatal, Prague, accredited IVF unit. METHODS: 94 infertile couples with translocation (44 couples with robertsonian and 50 couples with reciprocal translocations) were included in the study. The mean woman's age was not different: 33 +/- 4,4 in robertsonian vers. 33 +/- 3.9 in reciprocal translocations. The performance of FISH probes in specific cases was tested on patient's lymfocytes before the treatment was started. After ovarian stimulation (recombinant FSH or hMG + GnRH agonist, "long" protocol) and transvaginal oocyte pick-up, embryo biopsy of a single cell was performed 72 hours after fertilization. After blastomere fixation, translocated chromosomes + chromosomes 13, 18, 21, X and Y were tested using FISH. The maximum of two embryos euploid for detected chromosomes were transferred, supernumerary euploid embryos were frozen. RESULTS: From the total number of 629 embryos, 126 embryos (21.9%) were detected as normal or with balanced translocation--25.2% (68/270) in couples with robertsonian and 16.4% (59/359) with reciprocal translocation. Embryotransfer was performed in 30 cycles (68.2%) in robertsonian and 27 (54%) in reciprocal translocations. 24 pregnancies were achieved--15 (39% per cycle and 50% per ET) for robertsonian and 9 (19% per cycle and 33% per ET) for reciprocal translocation--this difference was statistically significant (p = 0.033). Only one pregnancy in each group ended as abortion. SUMMARY: IVF is a valuable option for couples with infertility problems and translocation. This technique allows in short-term a conception and delivery of a healthy baby with general better prognosis for couples with robertsonian translocation.

• MeSH
• fertilizace in vitro MeSH
• heterozygot * MeSH
• infertilita genetika   terapie   MeSH
• lidé MeSH
• novorozenec MeSH
• preimplantační diagnóza * MeSH
• těhotenství MeSH
• translokace genetická * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

Linkage relationships between A1BG, PGD, and HPX loci of rabbits were studied on segregation data in backcross matings. No sign of linkage between the three studied loci was found.

• MeSH
• alely MeSH
• fosfoglukonátdehydrogenasa genetika   MeSH
• genetická vazba genetika   MeSH
• hemopexin genetika   MeSH
• králíci genetika   MeSH
• krevní proteiny genetika   MeSH
• křížení genetické MeSH
• zvířata MeSH
• Check Tag
• králíci genetika   MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• fosfoglukonátdehydrogenasa MeSH
• hemopexin MeSH
• krevní proteiny MeSH

Although the chromosome 18 alpha-satellite probe is considered to have a very low polymorphism rate, the routine use of this probe in prenatal diagnosis revealed rare variants in size and copy number of these sequences. A polymorphic signal was detected in preimplantation genetic diagnosis (PGD) for aneuploidy, in a patient with repeated early miscarriages. A third small signal of chromosome 18 alpha-satellite probe was observed in two of four evaluated embryos. Hybridization to the woman's metaphasic lymphocytes revealed that the small signal was localized in the pericentromeric region of chromosome 1. Reanalysis of blastomeres with telomeric probes for chromosome 18q confirmed the presence of only two copies of chromosome 18. Options for verifying PGD analysis results, to prevent misdiagnosis in cases of suspected polymorphism, are discussed. Although some authors speculate about a possible role of heterochromatin polymorphism in infertility, this rare polymorphism of 18 alpha-satellite sequences is in itself probably a normal variant. This is the third report of a cross-hybridization of the chromosome 18 alpha-satellite probe and the first report of the localization of the polymorphic 18 alpha-satellite signal to chromosome 1.

• MeSH
• aneuploidie MeSH
• DNA sondy genetika   MeSH
• dospělí MeSH
• hybridizace in situ fluorescenční MeSH
• lidé MeSH
• lidské chromozomy, pár 1 genetika   MeSH
• lidské chromozomy, pár 18 genetika   MeSH
• mozaicismus MeSH
• polymorfismus genetický MeSH
• preimplantační diagnóza * MeSH
• satelitní DNA genetika   MeSH
• těhotenství MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• DNA sondy MeSH
• satelitní DNA MeSH

OBJECTIVE: Presentation of preimplantation genetic diagnosis and the set of laboratory processes like aspiration, preparation and evaluation of polar bodies, sperm cells and blastomeres using FISH method (fluorescent in situ hybridization) in ART. DESIGN: Review. SETTING: Sanatorium REPROMEDA, Brno, Veterinary Research Institute, Brno. METHODS: Overview of published data and own clinical experience with the cell aspiration methods, evaluated sample preparation and the proper chromosomes visualisation using FISH method. CONCLUSION: The review brings an overview of conditions and methods including sample obtaining, FISH analysis preparation and implementation, processed during PGD.

• MeSH
• chromozomální poruchy diagnóza   MeSH
• hybridizace in situ fluorescenční metody   MeSH
• lidé MeSH
• preimplantační diagnóza metody   MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• přehledy MeSH

The incidence of non-informative results after fluorescence in-situ hybridization (FISH) was analysed in preimplantation genetic diagnosis (PGD). FISH was performed on seven chromosomes (13, 16, 18, 21, 22, X, and Y) in two rounds of hybridization (one biopsied blastomere per day 3 embryo). A third round with telomeric probes was performed in order to analyse the chromosome(s) in question. A total of 702 embryos out of a total of 719 embryos from 95 cycles were analysed. The remaining 17 embryos were anucleated and/or had poor quality and could not be diagnosed. After FISH analysis, 52.7% of blastomeres were found to be abnormal, 27.1% euploid, and 20.2% had non-informative results. Abnormalities considered as non-informative included 'monosomy in question' (46.5%), 'trisomy in question' (40.2%), compound aneuploidy (8.5%), and 'no result' (4.9%) for a tested chromosome. Following re-hybridization with telomeric probes, euploidy was found in 42.4% of 'monosomies in question,' in 82.4% of 'trisomies in question,' in 16.7% of compound aneuploidies, and in 71.4% of 'no results' for a tested chromosome. Only 4.2% of non-informative results could not be rescued. This study clearly demonstrates the importance of re-hybridizing non-informative results and monosomies using a third round of hybridization with telomeric probes for chromosome(s) in question.

• MeSH
• biopsie MeSH
• blastomery patologie   MeSH
• DNA sondy MeSH
• dospělí MeSH
• hybridizace in situ fluorescenční metody   normy   MeSH
• lidé MeSH
• monozomie patologie   MeSH
• preimplantační diagnóza metody   MeSH
• těhotenství MeSH
• telomery genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• validační studie MeSH
• Názvy látek
• DNA sondy MeSH

Male infertility is a serious problem in an increasing number of couples. We report an infertile man with non-obstructive azoospermia and karyotype 45,XY,rob(14;22). The immunofluorescence analysis of his testicular tissue using antibodies to SYCP1, SYCP3, HORMAD2, MLH1, and centromeres showed delayed synapsis of the chromosomes involved in the translocation, a varying extent of trivalent asynapsis and its association with sex chromosomes. The mean frequency of meiotic recombination per cell was within the range of normal values. Fluorescence in situ hybridization (FISH) with probes for chromosomes 14 and 22 revealed 5.83% of chromosomally abnormal testicular spermatozoa. FISH with probes for chromosomes X, Y, and 21 showed frequencies of disomic and diploid testicular spermatozoa increased when compared to ejaculated sperm of healthy donors, but comparable with published results for azoospermic patients. PGD by FISH for the translocation and aneuploidy of chromosomes X, Y, 13, 18, and 21 showed a normal chromosomal complement in one out of three analyzed embryos. A healthy carrier girl was born after the embryo transfer. This study shows the benefits of preimplantation genetic diagnosis in a case of a rare Robertsonian translocation carrier with azoospermia and a relatively low frequency of chromosomally unbalanced testicular spermatozoa.

• Klíčová slova
• Aneuploidy, FISH, PGD, Robertsonian translocation, azoospermia, meiosis, testicular sperm,
• MeSH
• aneuploidie * MeSH
• azoospermie genetika   MeSH
• detekce genetických nosičů * MeSH
• karyotypizace MeSH
• lidé MeSH
• lidské chromozomy, pár 14 * MeSH
• lidské chromozomy, pár 22 * MeSH
• meióza genetika   MeSH
• spermie metabolismus   MeSH
• translokace genetická * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH

OBJECTIVE: The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. DESIGN: A review article. SETTING: Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. RESULTS: Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. CONCLUSION: Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

• Klíčová slova
• FISH, PGD, PGS, aCGH, fluorescence in situ hybridization, karyomapping NGS., preimplantation genetic diagnosis, preimplantation genetic screening,
• MeSH
• genetické testování * MeSH
• lidé MeSH
• preimplantační diagnóza * MeSH
• těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

Background: Prolonged Grief Disorder (PGD) has recently been included in both the ICD-11 and DSM-5-TR diagnostic manuals. Studying its prevalence and correlates across cultures is vital for more effective identification, treatment, and prevention.Objective: This study aimed to examine prevalence rates of ICD-11-based PGD, in a representative Slovakian sample in response to deaths of loved ones occurring during the previous year. Further aims were to examine the factor structure of PGD symptoms and correlates of summed PGD item scores and PGD 'caseness'.Method: Self-reported data on PGD, depression, anxiety, alcohol use, and descriptive characteristics were gathered from a representative sample of the Slovak population (N = 319).Results: Data were gathered from N = 1853 people; 319 participants (17.2%) reported a loss in the past year. The prevalence of probable PGD among these bereaved participants was 1.99% for recent losses (<6 months, n = 151) and 7.75% for more distant losses (6-12 months, n = 130). The most frequently endorsed symptoms included longing/yearning for the deceased, sadness, denial/unrealness, and difficulty accepting the death. PGD symptoms had a unitary factor structure which was consistent for subsamples bereaved 1-5 and 6-12 months. The severity of PGD varied with kinship. Depression and anxiety, but not alcohol misuse, were associated with PGD severity and PGD caseness.Conclusions: These findings underscore that a significant group of people develop PGD between 6-12 months following a loss. This emphasises the need for targeted psychological interventions.

Prolonged Grief Disorder (PGD) is newly included in ICD-11 and knowledge about its prevalence and correlates in the general population is urgently needed.In a representative Slovakian sample (N = 1853), 319 people (17.2%) reported a loss during the past year; 7.75% of people, bereaved 6–12 months earlier, met criteria for ICD-11-based PGD.PGD severity and caseness were associated with kinship (but less strongly with other sociodemographic and loss characteristics) and with depression and anxiety (but less strongly with problematic alcohol use).At 6–12 months following loss, PGD seems fairly common in the general population and timely identification and mitigation of PGD is an important public health issue.

• Klíčová slova
• CIE-11, Prolonged grief disorder, Trastorno por duelo prolongado, bereavement, grief, loss, mental health, prevalence, prevalencia, pérdida, salud mental,
• MeSH
• deprese epidemiologie   psychologie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mezinárodní klasifikace nemocí MeSH
• prevalence MeSH
• úzkost epidemiologie   psychologie   MeSH
• zármutek * MeSH
• ztráta blízké osoby * MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH