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Joan K. Morris - One of the best experts on this subject based on the ideXlab platform.
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Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
American Journal of Medical Genetics Part A, 2017Co-Authors: Alana Cavadino, Joan K. MorrisAbstract:Edwards Syndrome (trisomy 18) and Patau Syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau Syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome. There were 4088 prenatal diagnoses of trisomy 18 and 1471 of trisomy 13 in the analysis. For trisomy 18, 30% (95%CI: 25-34%) of viable fetuses at 12 weeks will result in a live birth and at 39 weeks gestation 67% (60-73%) will result in a live birth. For trisomy 13 the survival is 50% (41-58%) at 12 weeks and 84% (73-90%) at 39 weeks. There was no significant difference in survival between males and females when diagnosed at 12 weeks for trisomy 18 (P-value = 0.27) or trisomy 13 (P-value = 0.47). This paper provides the most precise gestational age-specific estimates currently available for the risk of fetal loss in trisomy 13 and trisomy 18 pregnancies in a general population.
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Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) Syndrome: England and Wales 2005-2012
Journal of Medical Screening, 2014Co-Authors: Anna Springett, Joan K. MorrisAbstract:ObjectivesPregnancies with Edwards or Patau Syndrome are often detected through screening for Down’s Syndrome. We aimed to evaluate the impact of screening for Down’s Syndrome on the prevalence of live births and antenatal diagnoses of Edwards and Patau Syndrome.SettingEngland and Wales, 2005 to 2012.MethodsData from the National Down Syndrome Cytogenetic Register, which contains information on nearly all ante- or postnatally diagnosed cases of Edwards or Patau Syndrome in which a karyotype was confirmed, were analysed.ResultsFrom 2005 to 2012, 3,941 diagnoses of Edwards Syndrome and 1,567 diagnoses of Patau Syndrome were recorded (prevalence of 7.0 and 2.8 per 10,000 births respectively). Only 11% (95% confidence interval [CI]: 10–12) of diagnoses of Edwards Syndrome and 13% (95% CI: 11–14) of Patau Syndrome were live births, resulting in live birth prevalences of 0.8 (95% CI: 0.7–0.8) and 0.4 (95% CI: 0.3–0.4) per 10,000 live births respectively. About 90% of pregnancies with Edwards or Patau Syndrome w...
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Antenatal screening for Down Syndrome: a quantitative demonstration of the improvements over the past 20 years.
Journal of Health Services Research & Policy, 2013Co-Authors: Richard Renshaw, Katrina Ellis, Patricia A. Jacobs, Joan K. MorrisAbstract:OBJECTIVES Pregnant women who receive a high screening risk result for Down, Edwards or Patau Syndrome are offered diagnostic tests that carry a procedure-related risk of miscarriage. This study quantifies the improvement in the screening tests by calculating the number of women who had such tests per Syndrome diagnosis from 1991 to 2010. METHODS Routinely stored data on prenatal chorionic villus sampling (CVS) and amniocentesis samples performed from 1991 to 2010 from the Wessex Regional Genetics Laboratory in England were extracted from the laboratory database. The numbers of diagnostic tests performed per Down, Edwards or Patau Syndrome diagnosis were calculated according to the type of diagnostic test, and were adjusted for maternal age and gestational age at diagnosis. RESULTS A total of 32,345 CVSs and amniocenteses identified 872 diagnoses of Down Syndrome and 328 of Edwards and Patau Syndrome. In 1991, there were 46 (95%CI: 16-111) CVSs per Syndrome diagnosis compared with five (95%CI: 4-7) in 2010. For amniocenteses, the number fell from 53 (37-78) to 15 (11-22). CONCLUSION This analysis demonstrates the improvements in antenatal screening for Down Syndrome that have been made over the past 20 years, resulting in a reduction in the number of women tested and thus in the number of foetal deaths attributable to the testing procedure.
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The population impact of screening for Down Syndrome: audit of 19 326 invasive diagnostic tests in England and Wales in 2008.
Prenatal Diagnosis, 2012Co-Authors: Joan K. Morris, Jonathan J. Waters, E. De SouzaAbstract:Objective Pregnant women who receive a high screening risk result for Down, Edwards or Patau Syndrome are offered diagnostic tests that carry a risk of miscarriage. This study determined how many women had such tests per Syndrome diagnosis. Method The number of tests per Down, Edwards or Patau Syndrome diagnosis adjusted for maternal and gestational age at diagnosis was calculated using routine data from 18 (95%) cytogenetic laboratories in England and Wales in 2008. Results There were 19 326 tests that identified 1118 diagnoses of Down Syndrome and 615 of Edwards and Patau Syndromes. There were eight chorionic villus samplings (CVS) per Syndrome diagnosis compared with 16 amniocenteses (gestational age adjusted). The lowest number of tests per diagnosis (three for CVSs and for amniocentesis) resulted from an abnormal ultrasound scan. Among pregnant women, 2.9% had an invasive diagnostic test. If a CVS and an amniocentesis increase the risk of a miscarriage by 1% and 0.5%, respectively, approximately one miscarriage for every 14 Down, Edwards or Patau Syndrome diagnosis would have occurred. Conclusion A simple measurement of the population impact of screening for Down Syndrome can be calculated using data already collected. Annual estimates should be produced to monitor the national fetal anomaly screening programme. © 2012 John Wiley & Sons, Ltd.
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the maternal age specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 down Syndrome
Prenatal Diagnosis, 2009Co-Authors: George M Savva, Kate Walker, Joan K. MorrisAbstract:To estimate the maternal age-specific live birth prevalence (in the absence of prenatal diagnosis and selective termination) of trisomy 13 (Patau Syndrome) and trisomy 18 (Edwards Syndrome) and compare it with that of trisomy 21 (Down Syndrome).
R J M Gardner - One of the best experts on this subject based on the ideXlab platform.
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three cases of trisomy 13 mosaicism and a review of the literature
Clinical Genetics, 2008Co-Authors: Martin B Delatycki, R J M GardnerAbstract:We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau Syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.
Patrícia Petry - One of the best experts on this subject based on the ideXlab platform.
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Gestational, perinatal and family findings of patients with Patau Syndrome
Revista Paulista De Pediatria, 2013Co-Authors: Rafael Fabiano Machado Rosa, Melina Vaz Sarmento, Janaina Borges Polli, Daniela De Paoli Groff, Patrícia Petry, Vinicius Freitas De Mattos, Rosana Cardoso M. Rosa, Patrícia Trevisan, Paulo Ricardo Gazzola ZenAbstract:OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau Syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p
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gestational perinatal and family findings of patients with Patau Syndrome
Revista Paulista De Pediatria, 2013Co-Authors: Rafael Fabiano Machado Rosa, Melina Vaz Sarmento, Janaina Borges Polli, Daniela De Paoli Groff, Patrícia Petry, Vinicius Freitas De Mattos, Rosana Cardoso M. Rosa, Patrícia Trevisan, Paulo Ricardo Gazzola ZenAbstract:OBJECTIVE: To describe gestational, perinatal and family findings of patients with Patau Syndrome (PS). METHODS: The study enrolled patients with PS consecutively evaluated during 38 years in a Clinical Genetics Service of a pediatric referral hospital in Southern Brazil. The clinical data and the results of cytogenetic analysis were collected from the medical records. For statistical analysis, the two-tailed Fisher's exact test and the chi-square test with Yates' correction were used, being significant p<0.05. RESULTS: The sample was composed of 27 patients, 63% were male, with a median age of nine days at the first evaluation. Full trisomy of chromosome 13 was the main cytogenetic finding (74%). Only six patients were submitted to obstetric ultrasound and none had prenatal diagnosis of PS. The patients' demographic characteristics, compared to born alive infants in the same Brazilian state showed a higher frequency of: mothers with 35 years old or more (37.5%); multiparous mothers (92.6%); vaginal delivery (77%); preterm birth (34.6%); birth weight <2500g (33.3%), and Apgar scores <7 in the 1st (75%) and in the 5th minute (42.9%). About half of them (53%) died during the first month of life. CONCLUSIONS: The understanding of the PS patients' gestational, perinatal and family findings has important implications, especially on the decision about the actions to be taken in relation to the management of these patients.
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clinical features and prognosis of a sample of patients with trisomy 13 Patau Syndrome from brazil
American Journal of Medical Genetics Part A, 2013Co-Authors: Patrícia Petry, Janaina Borges Polli, Vinicius Freitas De Mattos, Rosana Cardoso M. Rosa, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin, Rafael Fabiano Machado RosaAbstract:Trisomy 13 or Patau Syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P<0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging.
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clinical features and prognosis of a sample of patients with trisomy 13 Patau Syndrome from brazil
American Journal of Medical Genetics Part A, 2013Co-Authors: Patrícia Petry, Janaina Borges Polli, Vinicius Freitas De Mattos, Carla Graziadio, Giorgio Adriano Paskulin, Rosana Cardoso Manique Rosa, Rafael Fabiano Machado RosaAbstract:Trisomy 13 or Patau Syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P < 0.05). The sample consisted of 30 patients, 60% male, median age at first evaluation of 9 days. Full trisomy of chromosome 13 was the main cytogenetic alteration (73%). The major clinical findings included: cryptorchidism (78%), abnormal auricles (77%), congenital heart defects (76%), polydactyly (63%), microphthalmia (60%) and micrognathia (50%). Four patients (13%) simultaneously had micro/anophthalmia, oral clefts and polydactyly. Some findings were only observed in our sample and included, among others, preauricular tags (10%), duplication of the hallux (3%) and spots following the lines of Blaschko (3%). Mosaicism (20% of cases) had a statistically significant association only with absence of cryptorchidism. The median of survival was 26 days. Patients with and without mosaicism had similar median of survival. Our findings, in agreement with the literature, show that the anomalies in patients with PS can be quite variable, sometimes even atypical. There is no pathognomonic finding, which may make the early identification of these patients challenging. © 2013 Wiley Periodicals, Inc.
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Clinical features and prognosis of a sample of patients with trisomy 13 (Patau Syndrome) from Brazil
American Journal of Medical Genetics Part A, 2013Co-Authors: Patrícia Petry, Janaina Borges Polli, Vinicius Freitas De Mattos, Rosana Cardoso M. Rosa, Paulo Ricardo Gazzola Zen, Carla Graziadio, Giorgio Adriano Paskulin, Rafael Fabiano Machado RosaAbstract:Trisomy 13 or Patau Syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies. Our objective was to determine the clinical features and prognosis observed in a sample of patients with PS. The series was composed of patients with diagnosis of PS consecutively evaluated by a Clinical Genetics Service from a reference hospital of southern Brazil, in the period between 1975 and 2012. Statistical analysis was performed using PEPI program (version 4.0), with two-tailed Fisher's exact test for comparison of frequencies (P
Ann M Barnes - One of the best experts on this subject based on the ideXlab platform.
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a tumor profile in Patau Syndrome trisomy 13
American Journal of Medical Genetics Part A, 2017Co-Authors: Daniel Satge, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Mariepierre R Chenard, Ann M BarnesAbstract:Individuals with trisomic conditions like Down Syndrome and Edwards Syndrome are prone to certain types of malignancy. However, for Patau Syndrome (constitutional trisomy 13), which occurs in 1/10,000–1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau Syndrome. These comprised eight embryonic tumors, three leukemias, two malignant germ cell tumors, two carcinomas, a malignant brain tumor, and a sarcoma. Benign tumors were mainly extragonadal teratomas. The small number of reported malignant tumors suggests that there is not an increased risk of cancer in the context of trisomy 13. The tumor profile in Patau Syndrome differs from that observed in Edwards Syndrome (trisomy 18) and Down Syndrome (trisomy 21), suggesting that the supernumerary chromosome 13 could promote particular tumor formations as it does particular malformations. No general and direct relationships of tumor occurrence with organ weight, congenital malformations, histological changes, or presence of tumor suppressor genes on chromosome 13 were observed. However, some tumors were found in tissues whose growth and development are controlled by genes mapping to chromosome 13. Recent reports of successful outcomes following surgical treatment and adapted chemotherapy indicate that treatment of cancer is possible in Patau Syndrome.
Martin B Delatycki - One of the best experts on this subject based on the ideXlab platform.
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three cases of trisomy 13 mosaicism and a review of the literature
Clinical Genetics, 2008Co-Authors: Martin B Delatycki, R J M GardnerAbstract:We describe three cases of trisomy 13 mosaicism and review the literature. The phenotype ranges from a severe form similar to Patau Syndrome, through to physical and mental normality. This range presumably reflects the proportion and tissue distribution of the trisomic cell line. The percentage of trisomic cells in lymphocytes correlates poorly with the observed phenotype.