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PubMed1999

Unfused amnion and chorion after 14 weeks of gestation: associated fetal structural and chromosomal abnormalities.

OBJECTIVE: To assess possible associations between delayed chorioamniotic fusion after the end of the first trimester and fetal structural and/or chromosomal abnormalities. DESIGN: We prospectively studied 492 fetuses from high-risk pregnancies between 14 and 18 weeks of gestation by transabdominal ultrasonography. Of these, 60 (12%) had unfused amnion and chorion. RESULTS: No additional abnormalities were detected in 28/60 fetuses (47%). Karyotyping was performed in 27/28 cases, and one fetus had trisomy 13 (4%). Ten of 24 fetuses (42%) of this group attending a second mid-trimester scan after 18 weeks of gestation had abnormal sonographic findings not noted at the initial scan. Thirty-two of 60 (53%) fetuses had additional abnormalities at the initial scan: cystic hygroma (n = 12), increased nuchal translucency (n = 10) and other abnormalities (n = 10). Karyotyping revealed aneuploidy in 13 of 28 fetuses (46%) tested: trisomy 21 (n = 5), Turner's syndrome (n = 3), trisomy 18 (n = 3) and trisomy 13 (n = 2). Additional fetal abnormalities were detected only at the second scan after 18 weeks of gestation in three of eight fetuses (38%). CONCLUSIONS: These preliminary data suggest that the sonographic finding of unfused amnion and chorion after 14 weeks of gestation may be associated with fetal structural and/or chromosomal abnormalities.

Amnion↗
PubMed2003

Chromosomally abnormal cells are not selected for the extra-embryonic compartment of the human preimplantation embryo at the blastocyst stage.

BACKGROUND: Although well defined for embryos at cleavage stages, the occurrence and frequency of chromosomal aberrations in human blastocysts is relatively unknown. It has been reported that only one in four blastocysts is comprised totally of chromosomally normal cells. One of the selection mechanisms for the embryo proper to become free of these chromosomally abnormal cells would be to sequester them to the extra-embryonic compartment during development. The study aim was to investigate whether such a mechanism of selection exists in human preimplantation embryos. METHODS: Inner cell mass (ICM)/trophectoderm (TE) differentiation was performed, followed by fluorescence in-situ hybridization (FISH), to study the chromosomal distribution in both populations of cells. RESULTS: Of the 94 successfully analysed blastocysts, 68.8 +/- 1.5% of all analysable nuclei per blastocyst showed a disomic chromosomal content. Only 22.6% of blastocysts analysed were classified as normal. Of the embryos classified as abnormal at the blastocyst stage, 11.9% showed a simple mosaic pattern and 32.1% a complex mosaic pattern. An equally large group of blastocysts showed either a chaotic pattern (16.7%), or the chromosomal pattern could not be classified. The average degree of normal cells in the ICM (67.9%) was similar to the degree observed in the TE (69.5%). CONCLUSIONS: These findings indicate that chromosomally abnormal cells are not preferentially segregating to the extra-embryonic compartment of the human preimplantation embryo at the blastocyst stage. Hence, other mechanisms should be responsible for an absence of chromosomally abnormal cells in the embryo proper at later stages of development. One possible mechanism might be the elimination of the chromosomally abnormal cells by selective cell death activation.

Blastocyst↗
PubMed2001

The association between sporadic somatic parental aneuploidy and chromosomally abnormal placentae in habitual abortions.

To determine whether there is a correlation between the proportion of aneuploid cells in peripheral lymphocytes and the karyotype of the abortus in recurrent miscarriage. 40 couples with recurrent miscarriage and their abortuses were cytogenetically analyzed according to the analysis of 60 cells per proband. Women were divided into two groups according to the proportion of chromosomally abnormal cells in the abortus. Chromosomal analysis was performed using G-banding with trypsin-Giemsa in parental peripheral blood and in the abortus. 20 of the 40 abortuses had a chromosomally abberant karyotype. 65% of parents aborting an embryo with with an increased proportion of chromosomally aberrant cells, had more than 10% aneuploid cells in their peripheral lymphocytes. However, only 12.5% of couples aborting an embryo with chromosomally normal cells had increased rates of aneuploidy. An increased proportion of aneuploid cells was found in the lymphocytes of recurrently aborting couples who repeatedly abort chromosomally abnormal fetuses. Mitotic instability in the lymphocytes may indicate a predisposition to instability at meiosis leading to a chromosomal abberations in the embryo and its subsequent abortion.

Abortion, Habitual↗
PubMed1991

Chromosomal abnormalities among nurses occupationally exposed to antineoplastic drugs.

The effect of handling antineoplastic drugs was examined in 42 nurses working in an oncology department, and the same number of nurses not exposed to antineoplastic drugs acted as controls. The exposure effect was evaluated by analysis of sister chromatid exchanges (SCE) incidence and structural chromosomal abnormalities. SCE as well as chromosomal abnormalities in the exposed group were increased (p less than 0.001 and p less than 0.01, respectively). Sign test for paired sample was used for statistical assessment.

Adult↗
PubMed2003

Chromosomal abnormalities in embryos derived from testicular sperm extraction.

OBJECTIVE: To compare the rate of chromosome abnormalities in embryos obtained from karyotypically normal patients with nonobstructive azoospermia undergoing testicular sperm extraction (TESE) to those from patients undergoing intracytoplasmic sperm injection (ICSI) with ejaculated sperm. DESIGN: Retrospective analysis. SETTING: IVF centers. PATIENT(S): Male partners had either nonobstructive zoospermia or oligospermia. INTERVENTION(S): Preimplantation genetic diagnosis. Chromosome enumeration was performed by fluorescence in situ hybridization (FISH). Embryos classified as abnormal were reanalyzed to study mosaicism. MAIN OUTCOME MEASURE(S): Chromosome abnormalities in embryos. RESULT(S): Embryos from ICSI cycles with ejaculated sperm (group 1) were 41.8% normal, 26.2% aneuploid, and 26.5% mosaic. In contrast, the embryos from ICSI cycles with TESE for nonobstructive azoospermia (group 2) were 22% normal, 17% aneuploid, and 53% mosaic. The difference in mosaicism rate between the two groups of embryos was highly significant. CONCLUSION(S): The present study results indicate a high incidence of mosaicism in embryos derived from TESE in men with a severe deficit in spermatogenesis. Sperm derived from TESE for nonobstructive azoospermia may have a higher rate of compromised or immature centrosome structures leading to mosaicism in the embryo.

Aneuploidy↗
PubMedDate not supplied

Outcome for patients with constitutional 13q chromosomal abnormalities and retinoblastoma.

The outcomes for five patients with retinoblastoma and constitutional chromosomal abnormalities involving the long arm of chromosome 13 are reported. All patients demonstrated developmental delay and mental retardation. Four of these patients are alive 23, 21, 15, and 1 year from diagnosis; one died of pneumonia with septicemia. Each of the four survivors has, with aging, shown hypotonia, mutism, contractures, and inability to function independently.

Abnormalities, Multiple↗
PubMed1985

Chromosomal abnormalities in the Kaiser-Permanente Birth Defects Study, with special reference to contraceptive use around the time of conception.

Chromosomal abnormalities were studied in 33,551 abortions and births to women whose contraceptive histories had been recorded at their first antenatal visit in 1975-1977. Chromosome examinations were performed exclusively on clinical grounds. There were 45 de novo abnormalities detected (1.34/1,000); three of them were detected at amniocentesis. Trisomy 21 was observed in 27 cases (0.80/1,000), trisomy 18 in nine (0.27), other trisomies in three (0.09), and translocations or deletions in five (0.15). One case of triploidy and six cases of inherited abnormalities were detected. There were no significant racial variations. No increase in risk for chromosomal abnormalities was found among women who had used oral contraceptives prior to becoming pregnant or among women who experienced oral contraceptive breakthrough pregnancies. Two cases of trisomy 18 were observed among the 814 deliveries following oral contraceptive breakthrough conceptions (2.46/1,000), two cases of trisomy 21 occurred in 338 births following failures of rhythm contraception (5.92/1,000), and no cases of trisomy 21 or 18 among the 1,569 women using spermicides at the time of conception.

Abnormalities, Drug-Induced↗
PubMed1992

Detection of recurrent chromosome abnormalities in Ewing's sarcoma and peripheral neuroectodermal tumor cells using bivariate flow karyotyping.

Bivariate flow karyotyping can be used for the detection of recurrent chromosome abnormalities in tumor cells. For this purpose 2 cell lines originally derived from Ewing's sarcomas and 4 cell lines from peripheral neuroectodermal tumors were used. The characteristic t(11;22) was known to be present in 5 cell lines. The remaining cell line was known to have a variant t(2;11;22;21) translocation. Metaphase chromosomes were stained with the fluorescent dyes Hoechst 33258 and Chromomycin A3 and analyzed subsequently using bivariate flow cytometry. The resulting bivariate flow karyotypes of the tumor cells were normalized by a standardized procedure using a computerized method and compared with a reference flow karyotype of normal chromosomes. In 5 cell lines two recurring abnormal chromosome peaks were identified at positions expected for the der(11) and der(22) chromosomes characteristic for the reciprocal t(11;22)(q24;q12). In the remaining cell line with the variant t(2;11;22;21), only the peak representing the der(22) was identifiable. It is concluded that bivariate flow karyotyping can be used for the semiautomated detection of recurrent translocations and the assessment of their variability among different tumors.

Bisbenzimidazole↗
PubMed1999

[Application of fluorescence insitu hybridization technique for prenatal diagnosis of chromosome abnormality in amniotic cells].

OBJECTIVE: To study the technique and diagnostic value of fluorescence in situ hybridization (FISH) in chromosome abnormality for prenatal diagnosis. METHODS: Amniocenteses were performed in 34 pregnant women of 16-23 gestational weeks with indications for prenatal diagnosis. The amniotic fluid samples were cultured in Chang's medium. The metaphase chromosomes were hybridized in situ with the human centromere probes, alpha-satellites DNA probes of X, Y, 13, 21, 18 chromosomes and all primer chromosome probes. These probes were conjugated by Biotin and Dioxin then. The treated slides were examined and taken photos under the fluoromicroscope. RESULTS: By FISH technique, normal karyotypes were shown in 31 cases: 16 cases of 46, XY, 15 cases of 46, XX. Abnormalities were found in 3 patients which were 47, XY + 21; 47, XY + 18 and 45, X/46, X, r (X) respectively. CONCLUSION: Using FISH technique to detect chromosome abnormalities in amniotic fluid for prenatal diagnosis is a reliable method which is rapid and accurate. It has higher sensitivity and specificity in finding chromosome structure abnormalities and marking chromosome DNA sequences.

Adult↗
PubMed1994

Ultrasonographic measurement of fetal nuchal skin to screen for chromosomal abnormalities.

OBJECTIVE: The purpose of this prospective investigation was to determine the utility of ultrasonographic measurement of the fetal nuchal skin in screening for chromosomal abnormalities. STUDY DESIGN: In 1510 patients undergoing genetic amniocentesis at 14 to 21 weeks' gestation, the fetal nuchal skin fold was measured. A measurement of > or = 6 mm was considered abnormal. RESULTS: In fetuses with normal karyotype the nuchal skin increased with advancing gestational age (r = 0.45, p < 0.001). Only 27 fetuses with normal karyotype (2.0%) had an abnormal nuchal skin thickness. Fifty-seven fetuses had abnormal karyotype. Eight of 14 fetuses with Down syndrome had abnormal ultrasonographic findings; four had increased nuchal skin as the only ultrasonographic abnormality. Increased nuchal skin alone, in the absence of other ultrasonographic dysmorphologic features, did not help to identify fetuses with other abnormal karyotypes. CONCLUSION: Nuchal skin thickness is a useful noninvasive measurement to screen for Down syndrome but does not help to identify fetuses with other chromosomal abnormalities.

Chromosome Aberrations↗
PubMed1992

[Sex chromosome abnormalities and sex determination genes. Review of the literature].

Molecular analysis of structural chromosomal abnormalities, involving the sex chromosomes, has provided us new knowledge concerning sex determination in humans. This has raised three hypotheses of sexual differentiation, which will be discussed even though none of these can explain all abnormalities involved. Meiotic recombination which normally takes place during the male meiotic cell division, can give rise to sex reversal syndromes such as XX male and XY female, if crossing over is abnormal. Analysis of these abnormalities has made it possible to map sex determining regions on chromosome Y, and to construct a deletion map. Methods using DNA probes, are capable of identifying Y-specific sequences in persons with sex reversal. This means a more optimal counselling, possibilities of prenatal diagnosis, and opportunities for selecting patients with risk of gonad cancers, for extirpation.

Female↗
PubMed2005

High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Mutation of the human genome ranges from single base-pair changes to whole-chromosome aneuploidy. Karyotyping, fluorescence in situ hybridization, and comparative genome hybridization are currently used to detect chromosome abnormalities of clinical significance. These methods, although powerful, suffer from limitations in speed, ease of use, and resolution, and they do not detect copy-neutral chromosomal aberrations--for example, uniparental disomy (UPD). We have developed a high-throughput approach for assessment of DNA copy-number changes, through use of high-density synthetic oligonucleotide arrays containing 116,204 single-nucleotide polymorphisms, spaced at an average distance of 23.6 kb across the genome. Using this approach, we analyzed samples that failed conventional karyotypic analysis, and we detected amplifications and deletions across a wide range of sizes (1.3-145.9 Mb), identified chromosomes containing anonymous chromatin, and used genotype data to determine the molecular origin of two cases of UPD. Furthermore, our data provided independent confirmation for a case that had been misinterpreted by karyotype analysis. The high resolution of our approach provides more-precise breakpoint mapping, which allows subtle phenotypic heterogeneity to be distinguished at a molecular level. The accurate genotype information provided on these arrays enables the identification of copy-neutral loss-of-heterozygosity events, and the minimal requirement of DNA (250 ng per array) allows rapid analysis of samples without the need for cell culture. This technology overcomes many limitations currently encountered in routine clinical diagnostic laboratories tasked with accurate and rapid diagnosis of chromosomal abnormalities.

Chromosome Aberrations↗
PubMed1995

Numerical sex chromosomal abnormalities in pineal teratomas by cytogenetic analysis and fluorescence in situ hybridization.

BACKGROUND: Central nervous system teratomas are a rare subgroup of extragonadal germ cell tumors. Previous studies show ovarian mature teratomas to be karyotypically normal; those with increasing immaturity show increasing cytogenetic abnormalities. Adult testicular teratomas, regardless of maturity, most often show the i sochromosome 12p, a consistent chromosomal abnormality seen in adult testicular germ cell tumors. This study investigates the cytogenetic abnormalities of six central nervous system teratomas by the use of routine karyotypic analysis and fluorescence in situ hybridization. EXPERIMENTAL DESIGN: Karyotypic analysis was performed on two tumors. Four additional tumors were analyzed by dual-labeled fluorescence in situ hybridization. Paraffin blocks were disaggregated, and nuclei were hybridized with both biotin- and digoxigenin-labeled probes to the centromeric domains of the X and Y chromosomes, respectively. Tumor cells were scored for X and Y copy number. Tumor ploidy was determined by image analysis of the disaggregated specimens. RESULTS: The patients (five male, one female) ranged from 2 to 25 years of age. All presented with a solitary mass in the suprasellar region. A mature teratoma was 48, XXYY; an immature teratoma was 47, XXY, dir dup 11 (q12-22). Lymphocyte analysis of the second patient showed a normal constitutional karyotype. Fluorescence in situ hybridization analysis of four additional patients showed both one mature and one immature teratoma from male hosts to have 2X and 1Y signals in the majority of the cells. An immature teratoma from a male host showed 2X and 2Y signals. The above three tumors were diploid by static image analysis. An immature teratoma from a female host showed multiple (four to six) X signals in more than 70% of the cells. Ploidy analysis was unavailable for this case. CONCLUSIONS: Although patients with Klinefelter syndrome (47,XXY) and patients with 46,XY gonadal dysgenesis show an increased incidence of germ cell tumors, numerical sex chromosomal abnormalities have not been described in extragonadal teratomas. Our results support a role for sex chromosomes in the development of central nervous system teratomas.

Adult↗
PubMed2000

Fetal 'space-suit' hydrops in the first trimester: differentiating risk for chromosome abnormalities by delineating characteristics of nuchal translucency.

Detecting first trimester fetuses with pan-body hydrops, giving the appearance of a 'space-suit,' is associated with a marked increased risk for chromosome abnormalities. In 30 consecutive fetuses prospectively characterized by space-suit hydrops, detected at or before 13.9 weeks' gestation, 26 (86.7%) were characterized by chromosome abnormalities. However, as opposed to the preponderance of autosome abnormalities among first-trimester fetuses with prominent nuchal translucencies, 15 of the 26 fetuses (57.7%) with abnormal complements were characterized by sex chromosome aneuploidies. Genetic counselling and consideration of invasive prenatal testing is warranted when space-suit hydrops is detected in the first trimester.

Abortion, Therapeutic↗
PubMed1988

Occurrence and type of chromosomal abnormalities in consecutive malignant monoclonal gammopathies: correlation with survival.

Chromosome studies were done on 73 patients with multiple myeloma and three patients with plasma cell leukemia. Eighteen of 76 patients (24%) had chromosomally abnormal clones, including all three patients with PCL. The most common anomalous chromosomes were #1, #14, and #12. In addition, i(17q) was found in two patients with plasma cell leukemia. Among newly diagnosed patients there was no difference in survival for those with abnormal karyotypes and those with normal karyotypes. Among previously diagnosed patients receiving treatment, however, individuals with an abnormal clone had a significantly higher mortality during the first 2 years compared to those with a normal clone. Patients with no growth of metaphases in their bone marrow aspirate had a significantly lower mortality than other patients (p less than 0.05).

Chromosome Aberrations↗
PubMed1992

Variation in the levels of pregnancy-specific beta-1-glycoprotein in maternal serum from chromosomally abnormal pregnancies.

Human pregnancy-specific beta-1-glycoprotein (SP1) was assayed retrospectively in stored maternal serum (MS) samples from 82 chromosomally abnormal pregnancies and 377 matched controls. The median MSSP1 concentration in 48 Down's syndrome pregnancies was significantly elevated at 1.17 multiples of the control median (MOM), and significantly reduced (0.5 MOM) in a group of eight cases of unbalanced translocations. There was no significant difference in median SP1 concentrations in cases of trisomy 18, trisomy 13, balanced translocations, or sex chromosome abnormalities. A comparison with human chorionic gonadotrophin results in the same series of samples indicates that SP1 is a less sensitive predictor of Down's syndrome pregnancies.

Chorionic Gonadotropin↗
PubMed1981

Chromosome abnormalities associated with salivary gland epithelial cell lines transformed in vitro and in vivo with evidence of a role for genetic imbalance in transformation.

Chromosomal abnormalities associated with five in vitro-transformed male mouse salivary gland epithelial cell lines were compared with those in three cell lines derived from in vivo-induced tumors. All cell lines were hypotetraploid. Structural chromosome abnormalities were found in all cell lines, but no consistent aberration was detected. Nevertheless, losses of chromosomes 1, 4, 7, 9, and 14 were observed in all of the in vitro-transformed cell lines. With the possible exception of chromosome 1, the same chromosome losses were noted in the in vivo-transformed cell lines. In addition, a consistent feature of both in vitro- and in vivo-transformed cell lines was the presence of double minute chromosomes and homogeneously staining regions. Where both of these chromosome types were present in the same cell line, they were mutually exclusive. The Y chromosome was absent in nearly all of the cell lines. These findings are consistent with the view that, in salivary gland epithelium, the malignant phenotype may result from a genetic imbalance caused by specific chromosome losses from tetraploid cells.

9,10-Dimethyl-1,2-benzanthracene↗