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  • 1
    Electronic Resource
    Electronic Resource
    Sequence Analysis of Libraries from Individual Human Blastocysts (1998)
    Springer
    Journal of assisted reproduction and genetics 15 (1998), S. 338-343 
    Details
    ISSN: 1573-7330
    Keywords: human blastocyst ; cDNA library ; housekeeping genes ; expressed sequence tags
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: It has recently become possible to construct cDNA libraries from individual human blastocysts to investigate the expression of embryonic genes in human preimplantation development. We have previously reported the expression of β-actin, CD-59, and homeobox OCT-3 and identified almost-complete homology of sequences to human histone 3.1 and human ribosome protein S25. In the present paper, our further sequencing analysis of cDNA libraries from single human blastocysts is described. Methods: cDNA libraries were constructed from 13 blastocysts. Sequence analysis was performed in 120 clones from one of these cDNA libraries with fragments of 50 to 1000 bp. Their sequence identity was analyzed using the expressed sequence tag (EST) database. Results: The presence of two housekeeping genes, hexokinase 1 and serine/threonine phosphorylase, and four other ESTs was demonstrated, the identity of which, with particular gene expression in preimplantation development, has not yet been established. Conclusions: The data demonstrate the usefulness of constructing cDNA libraries from individual human blastocysts and their value in the analysis of genetic expression in human preimplantation development.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022513031671
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  • 2
    Electronic Resource
    Electronic Resource
    Birth of Healthy Children After Preimplantation Diagnosis of Thalassemias (1999)
    Springer
    Journal of assisted reproduction and genetics 16 (1999), S. 207-211 
    Details
    ISSN: 1573-7330
    Keywords: preimplantation genetic diagnosis ; thalassemia ; multiplex nested PCR ; allele dropout
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: Preimplantation genetic diagnosis (PGD) allows couples at risk of having children with thalassemia to ensure the healthy outcome of their pregnancy. Methods: Seventeen PGD clinical cycles were initiated for Cypriot couples at risk of having children with different thalassemia mutations, including IVS1-110, IVSI-6, and IVSII-745. Unaffected embryos for transfer were selected by testing oocytes, using first and second polar body (PB) removal and nested polymerase chain reaction analysis followed by restriction digestion. Results: Unaffected embryos were selected in 16 of 17 PGD cycles. Of 166 oocytes studied from these cycles, 110 were analyzed by sequential analysis of both the first and the second PB, resulting in preselection and transfer of 45 unaffected embryos. This resulted in seven pregnancies and in the birth of five healthy thalassemia-free children. The embryos predicted to have inherited the affected allele were not transferred. Analysis of these embryos confirmed the PB diagnosis. Conclusions: Sequential first and second PB testing of oocytes is reliable for PGD of thalassemia and is a feasible alternative to prenatal diagnosis in high-risk populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1020316924064
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  • 3
    Electronic Resource
    Electronic Resource
    Visualization of second polar body chromosomes in fertilized and artificially activated mouse oocytes treated with okadaic acid (1992)
    Springer
    Journal of assisted reproduction and genetics 9 (1992), S. 572-579 
    Details
    ISSN: 1573-7330
    Keywords: second polar body ; mouse ; okadaic acid ; cytogenetics ; meiotic nondisjunction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Setting The study took place at the Reproductive Biology and Experimental Cytogenetics Laboratories.
    Abstract: Methods Oocytes from F1 hybrid and T6/T6 mice were fertilized in vitro and artificially activated with ethanol. Zygotes, parthenogenetic embryos, and isolated second PBs were treated with 10 µM okadaic acid (OA) for 1–2 hr, further cultured in plain medium, and fixed. Chromosomal preparations were made and C-banded, and the number of chromosomes in second PBs and embryos was counted.
    Notes: Objective Our objective was to develop a new reliable method for cytogenetic analysis of the chromosome set in second polar bodies (PBs) from one-cell-stage mouse embryos.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01204256
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  • 4
    Electronic Resource
    Electronic Resource
    Preimplantation Diagnosis of Thalassemias (1998)
    Springer
    Journal of assisted reproduction and genetics 15 (1998), S. 219-225 
    Details
    ISSN: 1573-7330
    Keywords: preimplantation genetic diagnosis ; multiplex PCR ; thalassemia ; polymorphic markers ; β-globin gene ; allele dropout
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: Preimplantation genetic diagnosis (PGD) is an important option for couples at risk of having children with β-globin mutations to avoid selective abortions of affected fetuses following prenatal diagnosis. Methods: We performed PGD for thalassemia in 12 clinical cycles (IVS1-110, and IVS-745 mutations) using biopsy of the first and second polar bodies (PBs) extruded from oocytes during maturation and fertilization, coupled with nested polymerase chain reaction analysis and restriction digestion. Results: A total of 118 oocytes was obtained, of which 78 had results for both the first and the second PBs. This resulted in the selection and transfer of 30 unaffected embryos (2.5 embryos per cycle). To avoid a possible misdiagnosis due to allele dropout (ADO), we have also introduced simultaneous detection of two highly polymorphic linked markers, a short tandem repeat immediately at the 5′ end of the globin gene and HUMTH01 which is a syntenic short tandem repeat. The application of multiplex polymerase chain reaction of the β-globin gene and linked polymorphic markers enabled detection of ADO in five first PBs, thus avoiding the transfer of potentially affected embryos resulting from their corresponding oocytes. Conclusions: Confirmation studies of the embryos resulting from the oocytes predicted to contain an affected gene confirmed the diagnosis in 98% of the cases, thus demonstrating the accuracy and reliability of PB PGD of thalassemia mutations. The application of PB analysis in six patients resulted in two ongoing pregnancies with a thalassemia-free fetus already confirmed in both of them by prenatal diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022571822585
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  • 5
    Electronic Resource
    Electronic Resource
    Allele Dropout in Polar Bodies and Blastomeres (1998)
    Springer
    Journal of assisted reproduction and genetics 15 (1998), S. 253-257 
    Details
    ISSN: 1573-7330
    Keywords: preimplantation diagnosis ; PCR ; allele dropout ; short tandem repeats ; single-gene disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: Because allele dropout (ADO) is frequently observed in single-cell polymerase chain reaction analysis, it is important to develop a method for efficient detection of ADO, in order to avoid possible misdiagnosis in preimplantation diagnosis. Methods: We introduced a simultaneous amplification of mutant genes and linked polymorphic markers, such as a 4-bp repeat (GATT) at the 3′ end of intron 6 in the cystic fibrosis (CF) gene and a short tandem repeat at the 5′ end of the β-globin gene. Three types of single heterozygous cells were studied for the amplification of both alleles, including 150 blastomeres, 1615 fibroblasts, and 170 first polar bodies, obtained from patients at risk for having children with cystic fibrosis (delta F-508 mutation) or sickle cell disease. Results: ADO rates of as high as 33.3% for delta F-508 mutation and 22.8% for β-globin gene were observed in single blastomeres, compared to 7.1 and 7.7% in single fibroblasts and 5.9 and 9.6% in first polar bodies, respectively. The application of simultaneous amplification of the above linked polymorphic markers allowed detection of more than half of the cases of ADO in blastomeres (19.4% for cystic fibrosis and 12.3% for β-globin gene) and almost all ADOs in polar bodies, particularly when the two-step sequential analysis of the first and second polar body was applied in preimplantation diagnosis of single gene disorders. Conclusions: Simultaneous amplification of linked polymorphic markers in single-cell DNA analysis of single-gene defects is an efficient method for avoiding the risk of misdiagnosis in preimplantation diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022532108472
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  • 6
    Electronic Resource
    Electronic Resource
    Preimplantation Diagnosis of Common Aneuploidies by the First- and Second-Polar Body FISH Analysis (1998)
    Springer
    Journal of assisted reproduction and genetics 15 (1998), S. 285-289 
    Details
    ISSN: 1573-7330
    Keywords: preimplantation diagnosis ; first polar body ; second polar body ; fluorescent in situ hybridization (FISH) chromosome 13-, 18-, and 21 specific probes ; chromatid errors ; common aneuploidies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: A low pregnancy rate in in vitro fertilization (IVF) patients of advanced maternal age may be caused by aneuploidies originating from non disjunction in the first or second meiotic divisions. We introduced genetic testing of oocytes by sampling and fluorescent in situ hybridization (FISH) analysis of the first and second polar bodies, to avoid fertilization and transfer of aneuploid oocytes in IVF patients of advanced maternal age. Methods: Three hundred and sixty-three IVF patients 34 years and older participated in the study. Using micromanipulation procedures, the first and second polar bodies were removed following their extrusion from the oocytes and studied by FISH, using probes specific for chromosomes 13, 18, and 21 to detect oocytes with common aneuploidies. Results: Of a total of 538 IVF cycles, 3250 oocytes were available for FISH analysis, with conclusive FISH results in 2742 oocytes (84.3%). As many as 1102 (40%) of oocytes were predicted to be aneuploid and not transferred. Of 1640 embryos predicted to be normal, 1145 were transferred in 467 treatment cycles, resulting in 107 pregnancies (23%), from which 67 healthy children have been born, 32 pregnancies spontaneously aborted, and 15pregnancies are ongoing after being confirmed normal by prenatal diagnosis. 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.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022592427128
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  • 7
    Electronic Resource
    Electronic Resource
    Prevention of Age-Related Aneuploidies by Polar Body Testing of Oocytes (1999)
    Springer
    Journal of assisted reproduction and genetics 16 (1999), S. 165-169 
    Details
    ISSN: 1573-7330
    Keywords: preimplantation diagnosis ; chromosome 13, 18, and 21 aneuploidies ; FISH ; first and second polar bodies ; IVF
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: We previously demonstrated that aneuploidy-free oocytes may be preselected by testing the first and second polar bodies removed from oocytes following their maturation and fertilization. The present paper describes the results of the application of the method in 659 in vitro fertilization cycles from patients of advanced maternal age. Methods: Using micromanipulation techniques, 3943 oocytes were tested by polar body sampling and fluorescent in situ hybridization analysis using specific probes for chromosomes 13, 18, and 21. Results: Fluorescent in situ hybridization results were available for 3217 (81.6%) of 3943 oocytes studied, of which 1388 (43.1%) had aneuploidies; 35.7% of the aneuploidies were of first meiotic division origin, and 26.1% of second meiotic division origin. Most errors in the first meiotic division were represented by chromatid malsegregation. The transfer of embryos deriving from 1558 of 1829 aneuploidy-free oocytes in 614 treatment cycles resulted in 131 clinical pregnancies and 88 healthy children born after confirmation of the polar body diagnosis. Conclusions: Polar body testing of oocytes provides an accurate and reliable approach for prevention of age-related aneuploidies in in vitro fertilization patients of advanced maternal age.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1020304621338
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  • 8
    Electronic Resource
    Electronic Resource
    Accuracy of Preimplantation Diagnosis of Single-Gene Disorders by Polar Body Analysis of Oocytes (1999)
    Springer
    Journal of assisted reproduction and genetics 16 (1999), S. 192-198 
    Details
    ISSN: 1573-7330
    Keywords: preimplantation diagnosis ; single-gene disorders ; first and second polar bodies ; allele dropout ; multiplex PCR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Purpose: A number of pitfalls in single-cell DNA analysis, including undetected DNA contamination, undetected allele drop out, and preferential amplification, may lead to misdiagnosis in preimplantation genetic diagnosis of single-gene disorders. Methods: Preimplantation genetic diagnosis was performed by sequential first and second polar body analysis of oocytes in 26 couples at risk for having children with various single-gene disorders. Mutant genes were amplified simultaneously with linked polymorphic markers, and only embryos resulting from the mutation-free oocytes predicted by polar body analysis with confirmation by polymorphic marker testing were transferred back to patients. Results: Overall 529 oocytes from 48 clinical cycles (26 patients) were tested, resulting in the transfer of 106 embryos in 44 clinical cycles. As many as 46 (9.6%) instances of allele dropout were observed, the majority (96%) of which were detected. Seventeen unaffected pregnancies were established, of which nine resulted in the birth of an unaffected child, and the rest are ongoing. Conclusions: A high accuracy of preimplantation genetic diagnosis of single-gene disorders is achieved by application of sequential analysis of the first and second polar body and multiplex polymerase chain reaction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1020312823155
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  • 9
    Electronic Resource
    Electronic Resource
    Parthenogenetic activation of human oocytes by puromycin (1992)
    Springer
    Journal of assisted reproduction and genetics 9 (1992), S. 328-337 
    Details
    ISSN: 1573-7330
    Keywords: in vitro fertilization ; human oocytes ; cytogenetic analysis ; parthenogenetic activation ; puromycin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Setting The setting was our IVF laboratory.
    Abstract: Methods Eighty-two spare oocytes from 34 IVF patients were used. In the first series of experiments 39 unfertilized oocytes were cultured in medium containing 100, 50, or 10 µg/ml puromycin for 6 to 24 hr. After the appearance of pronuclei they were transferred to plain medium, further cultured, and cytogenetically analyzed. In the second series of experiments 43 oocytes were cultured for 5 to 10 hr in 10 µg/ml puromycin, transferred to plain medium, and fixed for cytogenetic analysis 2 hr after nuclear envelope breakdown.
    Notes: Objective Our objective was to obtain parthenogenetic activation of unfertilized human oocytes by puromycin and to try to use this procedure for cytogenetic purposes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01203955
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  • 10
    Electronic Resource
    Electronic Resource
    Current progress in preimplantation genetic diagnosis (1993)
    Springer
    Journal of assisted reproduction and genetics 10 (1993), S. 353-360 
    Details
    ISSN: 1573-7330
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01213430
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