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: 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: McMullan, Josh Courtney, Monaghan, Caitriona, Beattie, Charles

المصدر: Miscellaneous

الإتاحة: https://doi.org/10.1136/ijgc-2022-esgo.452Test

المؤلفون: Monaghan, Caitriona, Thilaganathan, Baskaran

المصدر: Journal of Fetal Medicine ; volume 03, issue 03, page 101-107 ; ISSN 2348-1153 2348-8859

الوصف: Fetal growth restriction (FGR) is associated with significantly increased perinatal mortality as well as immediate and long-term morbidity. One of the most challenging aspects of this condition is the ability to accurately define and adequately diagnose it in order to determine appropriate clinical management. Within a common pathogenesis of placental insufficiency, two phenotypes, early and late FGR, have emerged. Early FGR is easier to diagnose, however, as a consequence of extreme prematurity at presentation it can be extremely challenging to manage. Late fetal growth restriction is much more problematic to diagnose but relatively straightforward to manage as delivery is a reasonable option. Areas of research with regards to FGR, which require further evaluation, include the development of more accurate screening tools in order to identify those women at risk and validation of the role of aspirin in the prevention of this condition in a prospective adequately powered trial.

الإتاحة: https://doi.org/10.1007/s40556-016-0098-7Test

المؤلفون: Monaghan, Caitriona, Thilaganathan, Basky

المساهمون: Arulkumaran, Sabaratnam, Ledger, William, Denny, Lynette, Doumouchtsis, Stergios

المصدر: Oxford Textbook of Obstetrics and Gynaecology ; page 243-252

الوصف: Fetal therapy is defined as any prenatal treatment administered to the mother or fetus with the primary indication to improve perinatal or long-term outcomes for the fetus or newborn. The practice of fetal therapy is a relatively new concept in the field of obstetrics. It originated over 55 years ago when Liley et al. first performed intraperitoneal transfusion for the treatment of fetal anaemia. Since then, the practice has evolved from open fetal surgery to minimally invasive techniques used to manage an array of complex conditions. The domain of fetal therapy is an ever-evolving specialty. This chapter discusses key principles and techniques of current fetal therapy. As well as providing background information on how these techniques have evolved, it also focuses on determining what information future developments may bring.

الإتاحة: https://doi.org/10.1093/med/9780198766360.003.0019Test

المؤلفون: Eastwood, Mary Patrice, Shields, Mike, Monaghan, Caitriona, Haddad, Alina, Kerrin, Laura, Dick, Alistair C., Eastwood, Kelly-Ann

المصدر: Eastwood , M P , Shields , M , Monaghan , C , Haddad , A , Kerrin , L , Dick , A C & Eastwood , K-A 2020 , ' VP10.21: Evolving management of congenital pulmonary airway malformations in a single centre ' , Ultrasound in Obstetrics and Gynecology , vol. 56 , no. S1 . https://doi.org/10.1002/uog.22478Test

الإتاحة: https://doi.org/10.1002/uog.22478Test
https://pure.qub.ac.uk/en/publications/vp1021-evolving-management-of-congenital-pulmonary-airway-malformations-in-a-single-centreTest(ee386f07-0c8e-418d-97f3-86fdff72c4bb).html

المؤلفون: Monaghan, C., Binder, J., Kalafat, E., Thilaganathan, B., Khalil, A., Monaghan, Caitriona, Binder, Julia, Kalafat, Erkan, Thilaganathan, Baskaran, Khalil, Asma

المصدر: Ultrasound in Obstetrics & Gynecology; Feb2019, Vol. 53 Issue 2, p200-207, 8p

مصطلحات موضوعية: PERINATAL care, DOPPLER ultrasonography, BODY weight, FETAL growth retardation, FETAL ultrasonic imaging, GESTATIONAL age, INFANT mortality, EVALUATION of medical care, MULTIPLE pregnancy, PERINATAL death, PREGNANCY, TWINS, FETAL development, PROPORTIONAL hazards models, RETROSPECTIVE studies, SEVERITY of illness index, FETOFETAL transfusion, UMBILICAL arteries

مستخلص: Objective: To identify key factors associated with adverse perinatal outcome in monochorionic diamniotic twin pregnancy complicated by selective fetal growth restriction (sFGR).Methods: This was a retrospective cohort study of all monochorionic diamniotic twin pregnancies diagnosed with sFGR at ≥ 16 weeks' gestation, in a single tertiary referral center between March 2000 and May 2015. The presence of coexisting twin-twin transfusion syndrome (TTTS) was noted. Fetal biometry and Doppler indices, including those of the umbilical artery (UA) and ductus venosus (DV), were recorded at the time of diagnosis. The type of sFGR was diagnosed according to the pattern of end-diastolic flow in the UA of the smaller twin. DV pulsatility indices for veins (DV-PIV) were converted to Z-scores and estimated fetal weight values to centiles, to correct for gestational age (GA). Cox proportional hazards model was used to examine for independent predictors of adverse perinatal outcome, which was defined according to survival and included both intrauterine fetal demise and neonatal death of the FGR twin.Results: We analyzed 104 pregnancies, of which 66 (63.5%) were diagnosed with Type-I and 38 (36.5%) with Type-II sFGR at initial presentation. In pregnancies complicated by Type-II sFGR, the diagnosis of sFGR was made earlier than in those complicated by Type-I sFGR (mediam GA, 19.6 vs 21.5 weeks; P = 0.012), and Type-II sFGR was associated with increased risk of adverse perinatal outcome (intrauterine demise of the smaller twin, 34.2% vs 10.6%; P = 0.004). Twin pregnancies complicated by sFGR resulting in perinatal demise had a significantly earlier diagnosis (P = 0.002) and lower birth-weight centile of the smaller twin (P < 0.01), those with Type-I sFGR had earlier GA at delivery (P = 0.007) and those with Type-II sFGR had higher DV-PIV Z-score of the smaller twin (P = 0.003), when compared with pregnancies resulting in live birth. Coexisting TTTS had no significant impact on the perinatal outcome of pregnancies diagnosed with either Type-I or Type-II sFGR (P > 0.05 for both). Earlier GA at diagnosis (hazard ratio (HR), 0.70 (95% CI, 0.56-0.88); P = 0.002), Type-II sFGR (HR, 3.53 (95% CI, 1.37-9.07); P = 0.008) and higher DV-PIV Z-score (HR, 1.36 (95% CI, 1.12-1.65); P = 0.001) were significantly associated with increased risk of adverse perinatal outcome of the smaller twin.Conclusions: Pregnancies complicated by Type-II sFGR are diagnosed significantly earlier and are associated with increased risk of adverse perinatal outcome compared with those with Type-I sFGR. Coexisting TTTS has no significant impact on the perinatal outcome of pregnancies diagnosed with either Type-I or Type-II sFGR. Earlier GA at diagnosis, Type-II sFGR and higher DV-PIV Z-score are associated significantly with increased risk of adverse perinatal outcome of the smaller twin. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

: Copyright of Ultrasound in Obstetrics & Gynecology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Campbell, Patrick, Monaghan, Caitriona, Parker, Michael

المصدر: Gynecological Surgery ; volume 9, issue 1, page 73-76 ; ISSN 1613-2076 1613-2084

مصطلحات موضوعية: Obstetrics and Gynecology, Surgery

الإتاحة: https://doi.org/10.1007/s10397-011-0676-6Test

المؤلفون: Campbell, Patrick, Monaghan, Caitriona, Parker, Michael

المصدر: Gynecological Surgery; Feb2012, Vol. 9 Issue 1, p73-76, 4p

مستخلص: The objective of this study is to review outcomes and factors predictive of patient satisfaction following NovaSure endometrial ablation in the treatment of menorrhagia. NovaSure endometrial ablation has been established as a safe and effective treatment for menorrhagia. The setting of a hospital that is the biggest user of NovaSure in Ireland, coupled with a stable population, provided a unique opportunity to obtain accurate long-term follow-up data on the largest sample size reported to date. This is a retrospective observational study of 400 women who attended for NovaSure endometrial ablation between December 2006 and December 2009. Information was collected from patient charts and followed up with postal and telephone questionnaires. Statistical analysis was performed using SPSS version 18. The mean age and parity of patients were 44 years and 2.84, respectively. Three hundred and sixty-eight patients underwent the procedure, with an average treatment time of 88 seconds'. Eighty-seven percent of patients were satisfied with the procedure, with 59% achieving amenorrhoea. Subsequent hysterectomy was performed in 7.6%. The complication rate was 14% (32 abandoned procedures and 23 in-patient admissions following the procedure). There were no uterine perforations. Women with longer uterine cavities were less likely to be satisfied with the procedure ( p = 0.045). Satisfaction rate at 1-year follow-up was 95%. NovaSure endometrial ablation is a highly effective treatment for menorrhagia. We recommend outpatient follow-up of women with longer cavities as further treatment may be necessary. [ABSTRACT FROM AUTHOR]

: Copyright of Gynecological Surgery is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)