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1.
Int J Gynaecol Obstet ; 162(2): 752-758, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-36815738

RESUMEN

OBJECTIVE: To examine temporal trends in operative vaginal deliveries as well as the ratio between vacuum and forceps deliveries over 15 years in a large tertiary hospital. METHODS: This retrospective study assessed prospectively collected data from 2008 to 2021. Women with greater than 37 weeks of gestation who underwent an operative vaginal delivery were included. The rate and ratio of instrumental deliveries and perineal trauma were recorded. RESULTS: From 2008 to 2021 there was a total of 109 230 term deliveries, of which 20 151 were an operative vaginal delivery. The rate of operative vaginal delivery as a proportion of all term deliveries decreased from 21.9% (1547 of 7069) in 2008 to 17.1% in 2021 (1428 of 8338, P < 0.001). The ratio between vacuum and forceps-assisted deliveries decreased significantly over the study period, from 7.06 in 2008 to 2.39 in 2021 (P < 0.001). Perineal trauma remained unchanged during the study period. CONCLUSION: Operative vaginal delivery rates declined over the 15-year study period. While vacuum-assisted vaginal deliveries remain the favored instrument, forceps-assisted deliveries are becoming more prevalent. The cause for this change in practice is unclear but is likely multifactorial.


Asunto(s)
Forceps Obstétrico , Extracción Obstétrica por Aspiración , Embarazo , Femenino , Humanos , Centros de Atención Terciaria , Estudios Retrospectivos , Parto Obstétrico
2.
Eur J Hum Genet ; 28(12): 1669-1674, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32483343

RESUMEN

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive disease in the Republic of Ireland (ROI), with a previously quoted incidence of 1 in 1353 and carrier rate of 1 in 19. The National Newborn Screening (NBS) for CF was incorporated in July 2011 in the ROI. A cut-off point of the top 1% Immunoreactive Trypsinogen (IRT) was taken as an indication for 38 CFTR variant panel to maximise identification of affected CF cases and to minimise detection of carriers. All neonates from July 2011 to Dec 2017 with an elevated IRT on NBS were tested with 38 CFTR mutation panel and included. Clinical and laboratory database were analysed. In the first 6.5 years a total of 5,053 newborns (1.16% of total births) were screened with 38 CFTR panel. 170 CF affected cases, 320 unaffected carriers, 32 CF Screening Positive Inconclusive Diagnosis (CFSPID) were identified. There was one missed diagnosis. The most common disease-causing variant was c.1521_1523delCTT (p.(Phe508del)) followed by c.1652G>A (p.(Gly551Asp)). 95 out of 170 (55%) affected newborns were homozygous for c.1521_1523delCTT (p.(Phe08del)) and 25 (15%) carried at least one copy of c.1652G>A (p.(Gly551Asp)). Hence, 70% of affected newborns were eligible for CFTR modulator treatment. The NBS programme has identified almost triple the number of affected newborn with c.1652G>A (p.(Gly551Asp)) than previously quoted figures and identified less than 50% of carriers than predicted. The revised incidence and carrier frequency of CF in the ROI is 1 in 2570 and 1 in 25, respectively.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Pruebas Genéticas/estadística & datos numéricos , Tamizaje Neonatal/normas , Fibrosis Quística/diagnóstico , Femenino , Frecuencia de los Genes , Pruebas Genéticas/normas , Heterocigoto , Humanos , Recién Nacido , Irlanda , Masculino , Mutación , Sensibilidad y Especificidad
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