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PubMed1998

Incidence of chromosomal abnormalities from a morphologically normal cohort of embryos in poor-prognosis patients.

PURPOSE: Preimplantation genetic diagnosis of aneuploidy was performed on the embryos yielded by 70 poor-prognosis patients, with the aim of transferring those with a normal chromosomal complement, thus possibly increasing the chances of pregnancy. METHODS: Multicolor fluorescence in situ hybridization (FISH) was applied for the simultaneous detection of chromosomes X, Y, 13, 16, 18, and 21. Inclusion criteria were (1) a maternal age of 36 years or older (n = 33), (2) three or more previous in vitro fertilization cycles (n = 20), and (3) an altered karyotype (n = 17). RESULTS: A total of 412 embryos underwent FISH, resulting in 234 (57%) that were chromosomally abnormal. Euploid embryos were available for transfer in 59 patients, generating 19 pregnancies (32%), with an implantation rate of 19.9%. CONCLUSIONS: High rates of chromosomally abnormal embryos in poor-prognosis patients can determine repeated in vitro fertilization failures when embryo selection is performed on the basis of morphological criteria alone. Hence, the FISH analysis could represent the prevailing approach for the identification of embryos possessing full potential for developing to term.

Adult↗
PubMed2006

[OSCAR (one-stop clinic for assessment of fetal risk): our experience with first trimester screening for chromosomal abnormalities].

OBJECTIVES: In recent years has been intensified an effort to develop early more exact non-invasive methods for prenatal diagnosis. We report our experience to screen trisomy 21 and other chromosomal abnormalities in the first trimester in so-called OSCAR (One-Stop Clinic for Assessment of Fetal Risk). DESIGN AND SETTING: It is a retrospective study held at the Department of Medical Genetic and Fetal Medicine, Teaching Hospital, Olomouc. METHODS: A group of 2110 pregnant women has been screened by maternal age as a background risk, fetal nuchal translucency, nasal bone as ultrasound markers as well as maternal serum level of free beta-subunit human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) as a biochemical markers between 11 - 13+6 weeks of pregnancy from January 2004 to December 2005. The Fetal Medicine Foundation Guidelines and software were the methods and tools used for screening. Karyotyping by chorionic villous sampling or amniocentesis was offered to women with risks > or = 1 in 300. RESULTS: We reported 100% sensitivity for this method for a 4, 6% false positive. There was detected 21 chromosomal abnormalities in which 10 were trisomy 21. This is the first result to be published for this screening method in the Czech Republic. CONCLUSION: In our experience first trimester screening for trisomy 21 and other aneuploidies has a high sensitivity with a low false positive rate and can be delivered in an efficient manner in a one-stop multidisciplinary clinic.

Adolescent↗
PubMed2000

The influence of parity and gravidity on first trimester markers of chromosomal abnormality.

We have studied changes in first trimester fetal nuchal translucency (NT) and maternal serum free beta-hCG and PAPP-A with gravidity and parity in 3252 singleton pregnancies unaffected by chromosomal abnormality or major pregnancy complications. We have shown that gravidity and parity is associated with a small but progressive decrease in fetal NT and a small but progressive increase in free beta-hCG and PAPP-A. None of these small changes with increasing gravidity or parity are statistically significant and hence correction for these variables is not necessary when considering first trimester screening for chromosomal abnormalities.

Adult↗
PubMed2001

Allelic imbalance is not restricted to numerically abnormal chromosomes in epithelial ovarian tumours.

In this study, 23 low malignant potential (LMP) and 27 invasive epithelial ovarian tumours have been examined by microdissection and microsatellite polymerase chain reaction (PCR) for allelic imbalance (AI) at loci on the p and q arms of chromosomes 1, 11, 17, and X, and the data have been compared with interphase cytogenetics for numerical abnormalities (aneusomy) of these chromosomes. AI was uncommon in LMP tumours (5 of 23 at 9 of 146 informative loci) but was significantly more common (p<0.001) in invasive carcinomas (21 of 27 at 47 of 168 informative loci). This difference remained when LMP tumours were compared specifically with stage I carcinomas (p<0.001). A greater number of loci were involved in AI amongst serous than amongst mucinous carcinomas (p=0.015). AI was present at significantly more loci in carcinomas showing aneusomy by interphase cytogenetics than in those showing no numerical chromosome abnormalities (p<0.001). However, amongst the carcinomas showing aneusomy, AI was as frequent at loci on chromosomes with no numerical abnormality as at those with the numerical changes. These data demonstrate that aneusomy and AI are interrelated phenomena but that AI does not occur simply as a consequence of numerical chromosome changes.

Allelic Imbalance↗
PubMed1997

m-N-N-bis(2-chloroethyl)aminocinnamic acid and four new homo-aza-steroidal esters induce chromosomal abnormalities and affect protein synthesis in human lymphocytes in vitro.

The alkylating agent m-N,N-bis(2-chloroethyl)aminocinnamic acid (m-ACA) and four new homo-aza-steroidal esters were studied for their ability to induce chromosomal abnormalities and to affect protein synthesis in human lymphocytes in vitro. A mitotic index reduction and an increase in the total number of aberrations were observed. Analysis of chromosomal abnormalities has shown that these are mainly chromatid breaks. A decrease in protein synthesis was also observed that seems to fit with the order of activity of the above compounds reflected in the induction of chromosomal aberrations. The observation that protein synthesis and the induction of chromosomal aberrations are affected by these chemicals may reflect interactions between these molecules and DNA that result in structural chromosome changes and decreased protein synthesis.

Antineoplastic Agents, Alkylating↗
PubMed1999

Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping.

A de novo mosaic extra structurally abnormal chromosome (ESAC) was detected in 33 per cent of cultured amniotic fluid cells from a pregnant woman. Neither Q-banding nor fluorescence in situ hybridization (FISH) employing a DNA probe for nucleolar organizer region demonstrated the presence of satellites on the ESAC. Spectral karyotyping (SKY) was performed in this prenatal case and led to a quick and accurate determination of the ESAC as chromosome 14 in origin. The SKY finding was confirmed by conventional FISH analysis using a chromosome 14 specific painting probe. Subsequent hybridizations with a centromeric probe and a 14q subtelomeric probe were also performed to further characterize the ESAC. Absence of (TTAGGG)n sequence on the ESAC, determined postnatally, suggested it is a ring chromosome 14. Genetic counselling concerning these findings was provided to the parents who chose to continue the pregnancy. The male infant had no apparent abnormal phenotype at birth.

Adult↗
PubMed1995

A non-random chromosome abnormality found in precursor-B lineage acute lymphoblastic leukaemia: dic(9;20)(p1?3;q11).

A comparison of cytogenetical data on acute lymphoblastic leukaemia studied at four large European centres has revealed a non-random dicentric chromosome abnormality: dic(9;20) (p1?3;q11) in 10 patients, nine of whom were children. All had early precursor-B lineage ALL, and eight children had a non-standard risk clinical presentation. The origin of the dicentric chromosome was demonstrated using a range of chromosome banding techniques. This was confirmed by FISH using paints and centromeric probes for chromosomes 9 and 20, together with a number of cosmid probes. The follow-up time of these patients is presently too short and the number of patients too few to determine the prognostic significant of this chromosome abnormality.

Adolescent↗
PubMed1998

Translocation (3;3)(p14;q29) as the primary chromosome abnormality in a peritoneal mesothelioma.

Mesothelioma is a relatively rare malignant neoplasm arising from the serosal lining of the pleural, peritoneal, and pericardial cavities. Mesotheliomas are known to be associated with asbestos exposure. The karyotypes of these tumors have mostly been so complex as to preclude the identification of primary chromosome abnormalities. We present the cytogenetic analysis of two macroscopically distinct abdominal tumors, both diagnosed as peritoneal mesothelioma, occurring in a woman with a history of heavy asbestos exposure. Both tumors contained the same three karyotypically abnormal but cytogenetically related clones, with a balanced t(3;3)(p14;q29) as the primary chromosomal change. The fact that several chromosome abnormalities were common to both tumors strongly indicates that they arose through intraperitoneal spreading of a single neoplastic process; that is, they were not pathogenetically independent lesions. Our findings, taken together with previously published cytogenetic data on peritoneal mesotheliomas, indicate that a proportion of these tumors may be characterized by simple, balanced chromosomal rearrangements. At least a subset of peritoneal mesotheliomas arises through the same pathogenetic mechanisms that are involved in the pleural forms of this disease.

Aged↗
PubMed2005

Impact of follicular-fluid meiosis-activating sterol in an albumin-based formulation on the incidence of human pre-embryos with chromosome abnormalities.

OBJECTIVE: To evaluate the effect of adding follicular-fluid meiosis-activating sterol (FF-MAS) in a novel 0.2% recombinant human albumin-based formulation to cumulus-enclosed oocytes on chromosomal status and development of pre-embryos. DESIGN: Multicenter, prospective, randomized, open (double-blind for vehicle and FF-MAS groups), four parallel groups, controlled trial. SETTING: Four public IVF clinics in Denmark. PATIENT(S): Two hundred eighteen women undergoing IVF donated 483 oocytes. INTERVENTION(S): Follicle-stimulating hormone/hCG-primed cumulus-enclosed oocytes randomized to 4 hours of exposure to medium with 1 or 10 micromol/L of FF-MAS dissolved in 0.2% recombinant human albumin, medium with 0.2% recombinant human albumin (vehicle control), or medium alone (control) before insemination. MAIN OUTCOME MEASURE(S): Primary endpoint: incidence of human pre-embryos with chromosomal abnormalities. Secondary endpoint: fertilization rate, cleavage rate, and pre-embryo quality assessed after 68 hours of culture. RESULT(S): At pre-embryo level, the overall abnormality rates in the control, vehicle control, and 1- and 10-micromol/L FF-MAS groups were 53%, 39%, 42%, 53%, respectively, and at blastomere level 49%, 44%, 44%, and 48%, respectively. After 20 and 26 hours, the fertilization rates were between 67% and 71% in all groups. No differences in the cleavage rates were observed. CONCLUSION(S): The concentrations of FF-MAS in a novel 0.2% recombinant human albumin-based formulation of FF-MAS did not increase the risk of chromosomal abnormalities in pre-embryos or blastomeres. No statistically significant differences in fertilization rate, cleavage rate, or number of good quality pre-embryos were found among the four groups.

Adult↗
PubMed2000

Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection.

OBJECTIVE: To determine the prevalence of chromosomal abnormalities in female partners of couples undergoing IVF or intracytoplasmic sperm injection (ICSI). DESIGN: Prospective study. SETTING: Leuven University Fertility Center. PATIENT(S): Female candidates for IVF or ICSI. INTERVENTION(S): An initial cytogenetic study was performed on peripheral blood lymphocyte cultures using G- and R-banding. In all patients, > or =25 metaphases were examined. If a chromosomal aberration was detected, additional cytogenetic studies were performed for precise identification. MAIN OUTCOME MEASURE(S): Abnormal female karyotypes in comparison with the general female population. RESULT(S): Cytogenetic analysis was performed in 263 female partners of couples before entering an IVF or ICSI program. The prevalence of autosomal reciprocal balanced translocations was seven times higher in the study group (1.14%) than in the general population (0.16%). All abnormal karyotypes were found in the IVF group with male factor infertility. CONCLUSION(S): Chromosomal abnormalities are more frequent in the female partners of couples seeking fertility treatment. We recommend chromosomal analysis in women before starting IVF or ICSI treatment, even in the presence of male factor infertility.

Adult↗
PubMed2000

[Chromosomal abnormalities in malignant hematologic diseases].

The inclusion of cytogenetic studies in the protocol study of patients with hematological malignant diseases is a very important contribution because these results contribute to establish better precision of diagnosis, prognostic and suggest adequate therapeutic management precociously. The Karyotypes of 200 patients between ages of 2 and 84 years, 56/200 acute lymphoblastic leukemia (ALL), 55/200 acute myeloid leukemia (AML), 63/200 chronic myeloid leukemia (CML), 20/200 myelodysplastic syndrome (MDS), and 6/200 chronic lymphocytic leukemia, (CLL), are analyzed. Certain differences were noted. In ALL, hyperdiploidy was the chromosomal abnormality more frequently observed and no cases of Ph+ chromosome were reported; with respect to AML, the autosomal monosomy and trisomy were the most frequent findings. MDS reports only one case with 5q deletion, 10% of patients presented trisomy 14, rarely reported. CML do no report any case with double Ph+ and only one case with i(17q); nevertheless, one case with 21q deletion was found, which is an unreported anomaly. CLL did not present any case with trisomy 12. These findings are discussed in the context of geographical heterogeneity of chromosomal abnormalities in leukemia, and emphasize the importance of continued epidemiological studies.

Acute Disease↗
PubMed2000

Ultrasound markers of fetal chromosomal abnormality: a survey of policies and practices in UK maternity ultrasound departments.

OBJECTIVE: To evaluate the management of pregnancies where the fetus was found to have one or more sonographic markers of possible fetal chromosomal abnormality. DESIGN: Prospective anonymous postal survey of UK obstetric ultrasound units. MAIN OUTCOME MEASURES: The management of pregnancies where the fetus is found to have a sonographic marker of aneuploidy. POPULATION: All 252 maternity ultrasound units in the United Kingdom. METHODS: Postal questionnaire to the superintendent sonographer in routine maternal ultrasound departments. RESULTS: Questionnaires were returned from 179 maternity units (71%). Of the respondents 94% offered a fetal anomaly scan at 16-20 weeks' gestation and 59% performed a dating scan at 10-14 weeks. Screening for Down syndrome was available in 99% of all maternity units. The recognition of sonographic 'soft signs' for possible fetal chromosomal abnormality varied considerably between the units. When sonographers were asked about their unit's policy regarding offering amniocentesis to women with sonographic markers, 8-78% discussed amniocentesis when the marker was isolated and 53-88% when another abnormality was found. Eighty nine percent of units documented the abnormal ultrasound findings in the hospital notes and 88% of the women were informed of the findings regardless of the intention to offer amniocentesis. CONCLUSION: The practice of routine ultrasound examination is well established in UK, though precise policies vary. The existing wide variations in management policies possibly reflect a lack of data derived from low risk populations. There is a need to collect such data from low risk populations with known screening practices so that national guidelines to standardize practice can be formulated.

Amniocentesis↗
PubMed1987

Dermatoglyphic development on the volar pads of rats with chromosome abnormalities.

Dermatoglyphic abnormalities are often observed in patients with chromosome aberrations, but no similar observations have been made in animals. In the present study, palmar dermatoglyphics were examined in 4 rats with chromosome anomalies. Reciprocal translocations were induced by gamma-irradiation; the animals used were obtained from among offspring with abnormal karyotypes that were derived from the original mutant rats. As the epidermal surface of the volar pad of the rat is flat, dermatoglyphic characteristics were observed on the dermal surface following staining with toluidine blue. Unusual ridge configurations were found in some of them, suggesting that dermatoglyphic development in the rat reflects, to some extent, an abnormal chromosome constitution.

Animals↗
PubMed2006

Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.

Cell-free fetal DNA (cffDNA) in the supernatant of amniotic fluid, which is usually discarded, can be used as a sample for prenatal diagnosis. For rapid prenatal diagnosis of frequent chromosome abnormalities, for example trisomies 13, 18, and 21, and monosomy X, using cffDNA, we have developed a targeted microarray-based comparative genomic hybridization (CGH) panel on which BAC clones from chromosomes 13, 18, 21, X, and Y were spotted. Microarray-CGH analysis was performed for a total of 13 fetuses with congenital anomalies using cffDNA from their uncultured amniotic fluid. Microarray CGH with cffDNA led to successful molecular karyotyping for 12 of 13 fetuses within 5 days. Karyotypes of the 12 fetuses (one case of trisomy 13, two of trisomy 18, two of trisomy 21, one of monosomy X, and six of normal karyotype) were later confirmed by conventional chromosome analysis using cultured amniocytes. The one fetus whose molecular-karyotype was indicated as normal by microarray CGH actually had a balanced translocation, 45,XY,der(14;21)(q10;q10). The results indicated that microarray CGH with cffDNA is a useful rapid prenatal diagnostic method at late gestation for chromosome abnormalities with copy-number changes, especially when combined with conventional karyotyping of cultured amniocytes.

Amniotic Fluid↗
PubMed2001

Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.

Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mental retardation for subtelomeric anomalies using the multiprobe telomeric FISH method and also to develop and test a new assay, the MAPH telomeric assay, in the same group of patients. The new MAPH telomeric assay uses the recently published MAPH methodology that permits the measurement of locus copy number by hybridisation with a specifically designed set of probes located at the end of human chromosomes. Seventy patients with idiopathic mental retardation have been screened using the established multiprobe telomeric FISH assay and the new MAPH telomeric assay, for all telomeres. One patient with de novo 8p subtelomeric deletion was identified. The new MAPH telomeric assay confirmed the same results in both normal and abnormal samples. This is the first description of the use of MAPH methodology to detect chromosomal imbalances near the telomeres in idiopathic mentally retarded patients. The new MAPH telomeric assay offers a new, fast, accurate and cost effective diagnostic tool to detect chromosomal imbalances near telomeres in mentally retarded patients, as well as the characterisation of known chromosomal abnormalities, spontaneous recurrent miscarriages, infertility, hematological malignancies, preimplantation genetic diagnosis, and other fields of clinical and research interests.

Adolescent↗
PubMed2001

Exploring the complex relationship between adolescent sexual offending and sex chromosome abnormality.

The nature and importance of the relationship between sex chromosome abnormalities (SCAs) and sexual maladaptive behaviour is uncertain. When considering the aetiology of sexual offending behaviour, the importance of sex chromosome disorder lies in its biopsychological manifestations and in its complex interactions with external influences. At the Adolescent Forensic Service, in keeping with previous research in institutional settings, we found a higher pick-up rate of SCAs among sexual offenders (5/121) than would be expected in an unbiased community sample (1.2/1000 male livebirths; Jacobs et al. (1992)). We present descriptive data on five patients with SCAs out of a total of 121 sexual offenders who presented to the Adolescent Forensic Service over a 6-year period. We discuss the biopsychosocial features of these five patients and compare them with the remainder of the sexual offenders in the series. We discuss the advantages of early diagnosis and the need for professional vigilance by adolescent forensic psychiatrists, child and adolescent psychiatrists, paediatricians and clinical geneticists.

Adolescent↗
PubMed1992

The incidence of chromosomal abnormalities in frozen-thawed mouse oocytes after in-vitro fertilization.

Cryopreservation of mouse oocytes induced a high rate of atresia. Frozen oocytes observed immediately after thawing did not exhibit any alteration in the frequency of chromosomal abnormalities, aneuploidy or polyploidy. After in-vitro fertilization attempts, the cleavage rate of frozen-thawed mouse oocytes was decreased. Cytogenetical observations of inseminated eggs also confirmed this decrease in fertilization rate. First and second cleavages were delayed compared to fresh controls but subsequent development to the 4-cell stage was not altered. Freeze-thawing increased the incidence of chromosomal abnormalities in inseminated oocytes but this only concerned the frequency of triploidy and not monosomic or trisomic aneuploidy. The increase in triploidy seemed to be largely due to the presence of digynic embryos. Second polar body retention seemed to be mainly responsible for this high rate of polyploidy.

Aneuploidy↗
PubMed2004

[Preimplantation genetic screening for numerical chromosomal abnormalities in embryos from women of 35 years of age and older; first results in The Netherlands].

OBJECTIVE: To assess the results of preimplantation genetic screening (PGS) for numerical chromosomal abnormalities in embryos from women of 35 years of age and older. DESIGN: Prospective, descriptive. METHOD: Women who were at least 35 years received standard IVF/ICSI treatment including ovarian hyperstimulation, after which matured oocytes were recovered and inseminated. Three days after insemination, one cell was biopsied from each of the available embryos. In these cells, the copy number of 5 (first 21 patients) or 8 chromosomes was determined using fluorescence in situ hybridisation (FISH). Only embryos with a normal or unknown FISH result were implanted in the uterus. Data were collected in an electronic database. RESULTS: PGS was done for 28 IVF- and 22 ICSI-treatments; the average age of the 50 women at the beginning of treatment was 38.5 years. There were 360 embryos generated; of the 288 biopsied embryos 156 (54%) contained an abnormal number of chromosomes. In 45 women, 1 or 2 embryos were transferred. This resulted in 8 ongoing pregnancies (8/50; 16%) and the birth of 9 children, all of whom were found to be healthy on a paediatric examination at 3 to 10 months of age. In 4 cases there was no embryo transfer because all the embryos were chromosomally abnormal. CONCLUSION: In the first 50 patients in The Netherlands, PGS resulted in an ongoing pregnancy rate of 16% per woman. All children showed normal growth and development.

Adult↗