المؤلفون: Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie, Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark, Wapner, Ronald, Chitty, Lyn, Mone, Fionnuala, Blayney, Gillian, Laffan, Eoghan, Jacob, Preethi, Baptiste, Caitlin, Gabriel, Heinz, Sparks, Teresa, Yaron, Yuval, Norton, Mary

المصدر: Prenatal Diagnosis. 44(4)

مصطلحات موضوعية: Pregnancy, Female, Humans, Prospective Studies, Hydrocephalus, Nervous System Malformations, Karyotyping, Karyotype, Fetus, Prenatal Diagnosis, Ultrasonography, Prenatal

الوصف: OBJECTIVES: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities. METHODS: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model. RESULTS: Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%-36%; I2 = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%-34%; I2 = 74%]; (b) single CNS anomaly; 16% [95% CI 10%-23%; I2 = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%-40%; I2 = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%-57%; I2 = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus. CONCLUSIONS: Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0bb452s7Test

المؤلفون: Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark D., Wapner, Ronald J., Chitty, Lyn S., Mone, Fionnuala

المصدر: Blayney , G V , Laffan , E , Jacob , P A , Baptiste , C D , Gabriel , H , Sparks , T N , Yaron , Y , Norton , M E , Diderich , K , Wang , Y , Chong , K , Chitayat , D , Saini , N , Aggarwal , S , Pauta , M , Borrell , A , Gilmore , K , Chandler , N J , Allen , S , Vora , N , Noor , A , Monaghan , C , Kilby , M D , ....

الوصف: Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities. Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model. Results: Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%–36%; I 2 = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%–34%; I 2 = 74%]; (b) single CNS anomaly; 16% [95% CI 10%–23%; I 2 = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%–40%; I 2 = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%–57%; I 2 = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus. Conclusions: Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/c4068e9d-ebf8-4449-b9d5-fab832adcfaaTest

الإتاحة: https://doi.org/10.1002/pd.6466Test
https://pure.eur.nl/en/publications/c4068e9d-ebf8-4449-b9d5-fab832adcfaaTest
https://pure.eur.nl/ws/files/122450793/Monogenic_conditions_and_central_nervous_system_anomalies.pdfTest
http://www.scopus.com/inward/record.url?scp=85178425215&partnerID=8YFLogxKTest

المؤلفون: Kern-Goldberger, Adina R., Madden, Nigel, Baptiste, Caitlin, Friedman, Alexander, Gyamfi-Bannerman, Cynthia

المصدر: American Journal of Perinatology Reports ; volume 14, issue 01, page e57-e61 ; ISSN 2157-6998 2157-7005

الوصف: Objective Non-Hispanic black and Hispanic women experience significantly higher adverse maternal and neonatal outcomes compared with non-Hispanic white women. The purpose of this study is to explore whether disparities in obstetric outcomes exist by race among women who are college-educated. Study Design This is a retrospective cohort study from a multicenter observational cohort of women undergoing cesarean delivery. Women were defined as “college-educated” if they reported completion of a 4-year college degree. Race/ethnicity was categorized as non-Hispanic white, non-Hispanic black, Hispanic, Asian, Native American, or unknown. The primary outcome was a composite of maternal morbidity, and a composite of neonatal morbidity was evaluated as a secondary outcome. A multivariable logistic regression model was then utilized to assess associations of race with the primary and secondary outcomes. Results A total of 2,540 women were included in the study. After adjusting for potential confounding variables, maternal morbidity was found to be significantly higher for college-educated non-Hispanic black women compared with non-Hispanic white women (odds ratio [OR] 1.77, 95% confidence interval [CI] 1.12–2.80). The incidence of neonatal morbidity was significantly higher for non-Hispanic black (OR 1.91, 95% CI 1.31–2.79) and Hispanic (OR 3.34, 95% CI 2.23–5.01) women. Conclusion In this cohort, the odds of cesarean-related maternal and neonatal morbidities were significantly higher for college-educated non-Hispanic black women, compared with their non-Hispanic white counterparts. This demonstrates that even among women with higher level education, racial and ethnic disparities persist in obstetric outcomes.

الإتاحة: https://doi.org/10.1055/s-0043-1778000Test

المؤلفون: Giordano, Jessica, Pervola, Josie, Wilson, Ashley, Rehman, Atteeq, Thomas-Wilson, Amanda, Guha, Saurav, Okur, Volkan, Tinfow, Alexandra, Galloway, Stephanie, Perrin, Hannah, Esteves, Cecilia, Brace, Poppy, Baptiste, Caitlin, Srinivasa, Sowmya Thirumalai, Khan, Shahid, Elder, Bruce, Hegedus, Endre, Felice, Vanessa, Phadke, Shruti, Abhyankar, Avinash, Jobanputra, Vaidehi, Wapner, Ronald

المصدر: Genetics in Medicine Open ; volume 2, page 101688 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101688Test
https://api.elsevier.com/content/article/PII:S2949774424008343?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424008343?httpAccept=text/plainTest

المؤلفون: Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta, Noor, Abdul, Monaghan, Caitriona, Kilby, Mark D., Wapner, Ronald J., Chitty, Lyn S., Mone, Fionnuala

المصدر: Blayney , G V , Laffan , E , Jacob , P A , Baptiste , C D , Gabriel , H , Sparks , T N , Yaron , Y , Norton , M E , Diderich , K , Wang , Y , Chong , K , Chitayat , D , Saini , N , Aggarwal , S , Pauta , M , Borrell , A , Gilmore , K , Chandler , N J , Allen , S , Vora , N , Noor , A , Monaghan , C , Kilby , M D , ....

الوصف: Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities. Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model. Results: Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%–36%; I 2 = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%–34%; I 2 = 74%]; (b) single CNS anomaly; 16% [95% CI 10%–23%; I 2 = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%–40%; I 2 = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%–57%; I 2 = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus. Conclusions: Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/c4068e9d-ebf8-4449-b9d5-fab832adcfaaTest

الإتاحة: https://doi.org/10.1002/pd.6466Test
https://pure.eur.nl/en/publications/c4068e9d-ebf8-4449-b9d5-fab832adcfaaTest
https://pure.eur.nl/ws/files/122450793/Monogenic_conditions_and_central_nervous_system_anomalies.pdfTest
http://www.scopus.com/inward/record.url?scp=85178425215&partnerID=8YFLogxKTest

المؤلفون: Mone, Fionnuala, Mellis, Rhiannon, Gabriel, Heinz, Baptiste, Caitlin, Giordano, Jessica, Wapner, Ronald, Chitty, Lyn S.

المصدر: Mone , F , Mellis , R , Gabriel , H , Baptiste , C , Giordano , J , Wapner , R & Chitty , L S 2023 , ' Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis ' , American Journal of Obstetrics and Gynecology , vol. 228 , no. 4 , pp. 409-417.e4 . https://doi.org/10.1016/j.ajog.2022.09.045Test

مصطلحات موضوعية: Fetal growth restriction, exome sequencing, Prenatal, next generation sequencing

الوصف: Objective This study aimed to determine the incremental yield of prenatal exome sequencing over chromosomal microarray or G-banding karyotype in fetuses with: (1) intrauterine growth restriction related to placental insufficiency or (2) short long bones, in isolated and nonisolated instances for both scenarios. Data Sources Data were collected via electronic searches for relevant citations from January 2010 to April 10, 2022 in MEDLINE, Embase, Web of Science, and Cochrane, and using relevant bibliographies and data generated in-house. Study Eligibility Criteria Included were prospective or retrospective cohort studies and/or case series with: (1) n>5 cases of short long bones and/or intrauterine growth restriction undergoing prenatal sequencing with a clearly defined phenotype including assessment of placental function; (2) testing based on prenatal phenotype only; (3) a nondiagnostic chromosomal microarray/karyotype; and (4) known results of genetic testing. Methods Incremental yield was calculated for each study and as a pooled value for the aforementioned groups using a random-effects model. Results were displayed in forest plots with 95% confidence intervals. Heterogeneity was assessed statistically using Higgins’ I2. Publication bias was assessed graphically using funnel plots. Quality assessment was performed using modified Standards for Reporting of Diagnostic Accuracy criteria (International Prospective Register of Systematic Reviews registration number CRD42022324680). Results Nineteen studies were included (n=452 cases). The apparent incremental yields with prenatal sequencing were: (1) 4% (95% confidence interval, −5.0 to 12; I2=0%) in isolated intrauterine growth restriction with evidence of placental insufficiency, (2) 30% (95% confidence interval, 13–47; I2=1%) in intrauterine growth restriction with additional structural anomalies, (3) 48% (95% confidence interval, 26–70; I2=73%) in isolated short long bones, and (4) 68% (95% confidence interval, 58–77; I2=51%) in short long bones with ...

وصف الملف: application/pdf

العلاقة: https://pure.qub.ac.uk/en/publications/5d747ff0-59a6-49c6-a2fc-529db07dceecTest

الإتاحة: https://doi.org/10.1016/j.ajog.2022.09.045Test
https://pure.qub.ac.uk/en/publications/5d747ff0-59a6-49c6-a2fc-529db07dceecTest
https://pureadmin.qub.ac.uk/ws/files/439326441/Should_we_offer_prenatal_exome_sequencing.pdfTest

المؤلفون: Blayney, Gillian V., Laffan, Eoghan, Jacob, Preethi A., Baptiste, Caitlin D., Gabriel, Heinz, Sparks, Teresa N., Yaron, Yuval, Norton, Mary E., Diderich, Karin, Wang, Yiming, Chong, Karen, Chitayat, David, Saini, Neelam, Aggarwal, Shagun, Pauta, Montse, Borrell, Antoni, Gilmore, Kelly, Chandler, Natalie J., Allen, Stephanie, Vora, Neeta

المصدر: Prenatal Diagnosis; Apr2024, Vol. 44 Issue 4, p422-431, 10p

مستخلص: Objectives: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G‐banding karyotype in fetuses with central nervous system (CNS) abnormalities. Methods: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random‐effects model. Results: Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%–36%; I2 = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%–34%; I2 = 74%]; (b) single CNS anomaly; 16% [95% CI 10%–23%; I2 = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%–40%; I2 = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%–57%; I2 = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X‐linked hydrocephalus. Conclusions: Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex. key points: What is already known about this topic? Prenatal next‐generation sequencing increases the incremental diagnostic yield in fetuses with sonographic structural abnormalities and a normal G‐banding karyotype and/or chromosome microarray.Published diagnostic yields specific to central nervous system abnormalities are variable, highlighting the need for a systematic review. What does this study add? This is the first systematic review and meta‐analysis of the literature available to date in this area with sub‐classification by a pediatric neuroradiologistA subgroup analysis provides the incremental diagnostic yield for specific anatomical CNS anomalies [ABSTRACT FROM AUTHOR]

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المؤلفون: Baptiste, Caitlin, Pereira, Elaine

المصدر: Genetics in Medicine ; volume 24, issue 3, page S52 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.01.116Test
https://api.elsevier.com/content/article/PII:S1098360022001332?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022001332?httpAccept=text/plainTest

المؤلفون: Arditi, Brittany, Syeda, Sbaa K., Sutton, Desmond, Baptiste, Caitlin, Panzer, Alexis, Goffman, Dena, Aubey, Janice, Ewing, Julie, Fuchs, Karin

المصدر: American Journal of Obstetrics and Gynecology ; volume 224, issue 2, page S719-S720 ; ISSN 0002-9378

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1016/j.ajog.2020.12.1192Test
https://api.elsevier.com/content/article/PII:S0002937820325680?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002937820325680?httpAccept=text/plainTest

المؤلفون: Baptiste, Caitlin, Breslin, Noelle, Chong, Alexander, Vallese, Francesa, Costabile, Brianna K., Fuchs, Karin, Clarke, Oliver, Mancia, Filippo, Goffman, Dena, Uhlemann, Anne-Catrin, Gyamfi-Bannerman, Cynthia

المصدر: American Journal of Obstetrics and Gynecology ; volume 224, issue 2, page S571 ; ISSN 0002-9378

مصطلحات موضوعية: Obstetrics and Gynecology

الإتاحة: https://doi.org/10.1016/j.ajog.2020.12.944Test
https://api.elsevier.com/content/article/PII:S0002937820323206?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002937820323206?httpAccept=text/plainTest