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1.
Aust N Z J Obstet Gynaecol ; 64(2): 128-132, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37840188

RESUMEN

BACKGROUND: The clitoris has long been ignored in medical literature and teaching, with the first paper describing its anatomy only published in 1993. It is essential that those working in women's health understand the anatomy of this important female sexual organ. AIMS: The aim of this study was to assess the level of knowledge of the anatomy of the clitoris across five cohorts in a busy teaching maternity hospital in Ireland. MATERIALS AND METHODS: A questionnaire was devised, asking ten consultants, ten non-consultant hospital doctors (NCHDs), ten midwives, ten midwifery students and ten medical students to name the anatomical parts of a 3D model of the clitoris. RESULTS: None of the 50 respondents could name all five labelled parts of the clitoris, and 38 of respondents could not correctly name one anatomical part. CONCLUSIONS: It is evident that there is a lack of knowledge of the anatomical parts of the clitoris among the medical staff included in this study. This reflects a lack of adequate teaching in this area in both past and recent years. Despite this, we acknowledge that women's health and sexual health awareness is improving all of the time, and we hope that this study can highlight the need for reformed teaching in this area.


Asunto(s)
Clítoris , Salud Sexual , Embarazo , Femenino , Humanos , Clítoris/anatomía & histología , Maternidades , Salud de la Mujer , Encuestas y Cuestionarios
2.
Am J Obstet Gynecol ; 227(1): 79.e1-79.e11, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35033576

RESUMEN

BACKGROUND: Historically, prenatal screening has focused primarily on the detection of fetal aneuploidies. Cell-free DNA now enables noninvasive screening for subchromosomal copy number variants, including 22q11.2 deletion syndrome (or DiGeorge syndrome), which is the most common microdeletion and a leading cause of congenital heart defects and neurodevelopmental delay. Although smaller studies have demonstrated the feasibility of screening for 22q11.2 deletion syndrome, large cohort studies with confirmatory postnatal testing to assess test performance have not been reported. OBJECTIVE: This study aimed to assess the performance of single-nucleotide polymorphism-based, prenatal cell-free DNA screening for detection of 22q11.2 deletion syndrome. STUDY DESIGN: Patients who underwent single-nucleotide polymorphism-based prenatal cell-free DNA screening for 22q11.2 deletion syndrome were prospectively enrolled at 21 centers in 6 countries. Prenatal or newborn DNA samples were requested in all cases for genetic confirmation using chromosomal microarrays. The primary outcome was sensitivity, specificity, positive predictive value, and negative predictive value of cell-free DNA screening for the detection of all deletions, including the classical deletion and nested deletions that are ≥500 kb, in the 22q11.2 low-copy repeat A-D region. Secondary outcomes included the prevalence of 22q11.2 deletion syndrome and performance of an updated cell-free DNA algorithm that was evaluated with blinding to the pregnancy outcome. RESULTS: Of the 20,887 women enrolled, a genetic outcome was available for 18,289 (87.6%). A total of 12 22q11.2 deletion syndrome cases were confirmed in the cohort, including 5 (41.7%) nested deletions, yielding a prevalence of 1 in 1524. In the total cohort, cell-free DNA screening identified 17,976 (98.3%) cases as low risk for 22q11.2 deletion syndrome and 38 (0.2%) cases as high risk; 275 (1.5%) cases were nonreportable. Overall, 9 of 12 cases of 22q11.2 were detected, yielding a sensitivity of 75.0% (95% confidence interval, 42.8-94.5); specificity of 99.84% (95% confidence interval, 99.77-99.89); positive predictive value of 23.7% (95% confidence interval, 11.44-40.24), and negative predictive value of 99.98% (95% confidence interval, 99.95-100). None of the cases with a nonreportable result was diagnosed with 22q11.2 deletion syndrome. The updated algorithm detected 10 of 12 cases (83.3%; 95% confidence interval, 51.6-97.9) with a lower false positive rate (0.05% vs 0.16%; P<.001) and a positive predictive value of 52.6% (10/19; 95% confidence interval, 28.9-75.6). CONCLUSION: Noninvasive cell-free DNA prenatal screening for 22q11.2 deletion syndrome can detect most affected cases, including smaller nested deletions, with a low false positive rate.


Asunto(s)
Ácidos Nucleicos Libres de Células , Síndrome de DiGeorge , Femenino , Humanos , Recién Nacido , Embarazo , Aneuploidia , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Diagnóstico Prenatal , Polimorfismo de Nucleótido Simple
3.
Am J Obstet Gynecol ; 227(2): 259.e1-259.e14, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35085538

RESUMEN

BACKGROUND: Cell-free DNA noninvasive prenatal screening for trisomies 21, 18, and 13 has been rapidly adopted into clinical practice. However, previous studies are limited by a lack of follow-up genetic testing to confirm the outcomes and accurately assess test performance, particularly in women at a low risk for aneuploidy. OBJECTIVE: To measure and compare the performance of cell-free DNA screening for trisomies 21, 18, and 13 between women at a low and high risk for aneuploidy in a large, prospective cohort with genetic confirmation of results STUDY DESIGN: This was a multicenter prospective observational study at 21 centers in 6 countries. Women who had single-nucleotide-polymorphism-based cell-free DNA screening for trisomies 21, 18, and 13 were enrolled. Genetic confirmation was obtained from prenatal or newborn DNA samples. The test performance and test failure (no-call) rates were assessed for the cohort, and women with low and high previous risks for aneuploidy were compared. An updated cell-free DNA algorithm blinded to the pregnancy outcome was also assessed. RESULTS: A total of 20,194 women were enrolled at a median gestational age of 12.6 weeks (interquartile range, 11.6-13.9). The genetic outcomes were confirmed in 17,851 cases (88.4%): 13,043 (73.1%) low-risk and 4808 (26.9%) high-risk cases for aneuploidy. Overall, 133 trisomies were diagnosed (100 trisomy 21; 18 trisomy 18; 15 trisomy 13). The cell-free DNA screen positive rate was lower in the low-risk vs the high-risk group (0.27% vs 2.2%; P<.0001). The sensitivity and specificity were similar between the groups. The positive predictive value for the low- and high-risk groups was 85.7% vs 97.5%; P=.058 for trisomy 21; 50.0% vs 81.3%; P=.283 for trisomy 18; and 62.5% vs 83.3; P=.58 for trisomy 13, respectively. Overall, 602 (3.4%) patients had no-call result after the first draw and 287 (1.61%) after including cases with a second draw. The trisomy rate was higher in the 287 cases with no-call results than patients with a result on a first draw (2.8% vs 0.7%; P=.001). The updated algorithm showed similar sensitivity and specificity to the study algorithm with a lower no-call rate. CONCLUSION: In women at a low risk for aneuploidy, single-nucleotide-polymorphism-based cell-free DNA has high sensitivity and specificity, positive predictive value of 85.7% for trisomy 21 and 74.3% for the 3 common trisomies. Patients who receive a no-call result are at an increased risk of aneuploidy and require additional investigation.


Asunto(s)
Ácidos Nucleicos Libres de Células , Trastornos de los Cromosomas , Síndrome de Down , Trisomía , Aneuploidia , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Síndrome de Down/diagnóstico , Síndrome de Down/genética , Femenino , Humanos , Recién Nacido , Nucleótidos , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal/métodos , Estudios Prospectivos , Trisomía/diagnóstico , Trisomía/genética , Síndrome de la Trisomía 13/diagnóstico , Síndrome de la Trisomía 13/genética , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/genética
4.
Fetal Diagn Ther ; 48(9): 667-671, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34569548

RESUMEN

OBJECTIVE: Studies summarizing the outcome of first-trimester septated cystic hygroma are generally based on small studies or from multiple centers with limited ascertainment. We reviewed the natural history of a large cohort of such cases from a single tertiary referral center, with the aim being to establish contemporary outcome data, particularly in the setting of normal karyotype. METHODS: A retrospective cohort study from 2007 to 2017 was conducted at a single tertiary referral prenatal diagnosis center. Data were analyzed from a prospectively collated fetal anomaly database. Search terms were "increased nuchal translucency (NT)," "cystic hygroma," and "septated cystic hygroma." All cases were confirmed to have NT >3 mm with septations. Cases of simple increased NT without septations were excluded. RESULTS: During the study period, over 110,000 pregnancies were delivered at our center, resulting in 410 cases of septated cystic hygroma diagnosed prior to 14 weeks' gestation. Pregnancy outcome was obtained in 99% (405/410) of cases, with detailed pathology outcome available in 92% (378/410). A total of 87% (351/405) underwent invasive prenatal testing, and postnatal chromosome status was established in further 27 cases. A total of 61% (230/378) had abnormal chromosomal status. Of the 39% (148/378) with normal chromosomal status, only 13% (19/148) had a significant structural fetal abnormality, which included 7 cardiac and 12 noncardiac abnormalities. Overall, the perinatal loss was 62% (253/405). The total survival rate in the setting of euploid cystic hygroma without structural abnormality was 84% (108/129). CONCLUSIONS: Counseling regarding outcomes in the setting of first-trimester septated cystic hygroma initially focuses on the strong likelihood of an abnormal karyotype, which occurs in 61% of cases. However, once fetal chromosomal abnormality is excluded, our results demonstrate only a 13% incidence of major structural fetal abnormality, which appears significantly less than previously reported. Normal fetuses have a 77% survival rate. These data represent the largest single-center study of first-trimester cystic hygroma with complete outcome data and therefore will be useful for contemporary patient counseling. Such counseling can be more positive than previously expected, once chromosomal abnormality is first excluded.


Asunto(s)
Linfangioma Quístico , Aberraciones Cromosómicas , Femenino , Humanos , Linfangioma Quístico/diagnóstico por imagen , Embarazo , Resultado del Embarazo , Primer Trimestre del Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Ultrasonografía Prenatal
5.
Am J Obstet Gynecol ; 221(3): 273.e1-273.e9, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31226291

RESUMEN

BACKGROUND: Fetal growth restriction accounts for a significant proportion of perinatal morbidity and death. The cerebroplacental ratio is gaining much interest as a useful tool in differentiating the "at-risk" fetus in both fetal growth restriction and appropriate-for-gestational-age pregnancies. The Prospective Observational Trial to Optimize Pediatric Health in Fetal Growth Restriction group has demonstrated previously that the presence of this "brain-sparing" effect is associated significantly with adverse perinatal outcomes in the fetal growth restriction cohort. However, data about neurodevelopment in children from pregnancies that are complicated by fetal growth restriction are sparse and conflicting. OBJECTIVE: The aim of the Prospective Observational Trial to Optimize Pediatric Health in Fetal Growth Restriction NeuroDevelopmental Assessment Study was to determine whether children born after fetal growth-restricted pregnancies are at additional risk of adverse early childhood developmental outcomes compared with children born small for gestational age. The objective of this secondary analysis was to describe the role of cerebroplacental ratio in the prediction of adverse early childhood neurodevelopmental outcome. STUDY DESIGN: Participants were recruited prospectively from the Perinatal Ireland multicenter observational Prospective Observational Trial to Optimize Pediatric Health in Fetal Growth Restriction study cohort. Fetal growth restriction was defined as birthweight <10th percentile with abnormal antenatal umbilical artery Doppler indices. Small for gestational age was defined similarly in the absence of abnormal Doppler indices. Cerebroplacental ratio was calculated with the pulsatility indices of the middle cerebral artery and divided by umbilical artery with an abnormal value <1. Children (n=375) were assessed at 3 years with the use of the Ages and Stages Questionnaire and the Bayley Scales of Infant and Toddler Development, 3rd edition. Small-for-gestational-age pregnancies with normal Doppler indices were compared with (1) fetal growth-restricted cases with abnormal umbilical artery Doppler and normal cerebroplacental ratio or (2) fetal growth restriction cases with both abnormal umbilical artery and cerebroplacental ratio. Statistical analysis was performed with statistical software via 2-sample t-test with Bonferroni adjustment, and a probability value of .00625 was considered significant. RESULTS: Assessments were performed on 198 small-for-gestational-age children, 136 fetal growth-restricted children with abnormal umbilical artery Doppler images and normal cerebroplacental ratio, and 41 fetal growth-restricted children with both abnormal umbilical artery Doppler and cerebroplacental ratio. At 3 years of age, although there were no differences in head circumference, children who also had an abnormal cerebroplacental ratio had persistently shorter stature (P=.005) and lower weight (P=.18). Children from fetal growth restriction-affected pregnancies demonstrated poorer neurodevelopmental outcome than their small-for-gestational-age counterparts. Fetal growth-restricted pregnancies with an abnormal cerebroplacental ratio had significantly poorer neurologic outcome at 3 years of age across all measured variables. CONCLUSION: We have demonstrated that growth-restricted pregnancies with a cerebroplacental ratio <1 have a significantly increased risk of delayed neurodevelopment at 3 years of age when compared with pregnancies with abnormal umbilical artery Doppler evidence alone. This study further substantiates the benefit of routine assessment of cerebroplacental ratio in fetal growth-restricted pregnancies and for counseling parents regarding the long-term outcome of affected infants.


Asunto(s)
Retardo del Crecimiento Fetal/fisiopatología , Arteria Cerebral Media/fisiopatología , Trastornos del Neurodesarrollo/etiología , Flujo Pulsátil , Arterias Umbilicales/fisiopatología , Adulto , Encéfalo/embriología , Encéfalo/fisiopatología , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Arteria Cerebral Media/diagnóstico por imagen , Arteria Cerebral Media/embriología , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/fisiopatología , Pruebas Neuropsicológicas , Placenta/embriología , Placenta/fisiopatología , Embarazo , Estudios Prospectivos , Factores de Riesgo , Ultrasonografía Doppler , Ultrasonografía Prenatal , Arterias Umbilicales/diagnóstico por imagen , Arterias Umbilicales/embriología
6.
Am J Obstet Gynecol ; 219(1): 105.e1-105.e11, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29655965

RESUMEN

BACKGROUND: Cesarean delivery has increased steadily in the United States over recent decades with significant downstream health consequences. The World Health Organization has endorsed the Robson 10-Group Classification System as a global standard to facilitate analysis and comparison of cesarean delivery rates. OBJECTIVE: Our objective was to apply the Robson 10-Group Classification System to a nationwide cohort in the United States over a 10-year period. STUDY DESIGN: This population-based analysis applied the Robson 10-Group Classification System to all births in the United States from 2005 through 2014, recorded in the 2003 revised birth certificate format. Over the study 10-year period, 27,044,217 deliveries met inclusion criteria. Five parameters (parity including previous cesarean, gestational age, labor onset, fetal presentation, and plurality), identifiable on presentation for delivery, were used to classify all women included into 1 of 10 groups. RESULTS: The overall cesarean rate was 31.6%. Group-3 births (singleton, term, cephalic multiparas in spontaneous labor) were most common, while group-5 births (those with a previous cesarean) accounted for the most cesarean deliveries increasing from 27% of all cesareans in 2005 through 2006 to >34% in 2013 through 2014. Breech pregnancies (groups 6 and 7) had cesarean rates >90%. Primiparous and multiparous women who had a prelabor cesarean (groups 2b and 4b) accounted for over one quarter of all cesarean deliveries. CONCLUSION: Women with a previous cesarean delivery represent an increasing proportion of cesarean deliveries. Use of the Robson criteria allows standardized comparisons of data and identifies clinical scenarios driving changes in cesarean rates. Hospitals and health organizations can use the Robson 10-Group Classification System to evaluate quality and processes associated with cesarean delivery.


Asunto(s)
Cesárea/tendencias , Edad Gestacional , Inicio del Trabajo de Parto , Presentación en Trabajo de Parto , Progenie de Nacimiento Múltiple , Paridad , Adulto , Certificado de Nacimiento , Estudios de Cohortes , Femenino , Humanos , Persona de Mediana Edad , Embarazo , Estados Unidos , Adulto Joven
7.
Int Urogynecol J ; 29(3): 377-381, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-28523399

RESUMEN

INTRODUCTION AND HYPOTHESIS: Shoulder dystocia is an obstetric emergency that occurs in 0.2-3% of all cephalic vaginal deliveries. We hypothesized that because of the difficult nature of deliveries complicated by shoulder dystocia, the condition may be associated with anal sphincter injury. We sought to identify risk factors for obstetric anal sphincter injury in women with shoulder dystocia. METHODS: This retrospective analysis included all cases of shoulder dystocia from 2007 to 2011 at two large tertiary referral centers, in the USA and Ireland. Details of maternal demographics, intrapartum characteristics, and delivery outcomes in cases of shoulder dystocia were analyzed. Univariate and multivariate analyses were used to describe the association between shoulder dystocia and anal sphincter injury. RESULTS: There were 685 cases of shoulder dystocia, and the rate of shoulder dystocia was similar at both institutions. The incidence of anal sphincter injury was 8.8% (60 out of 685). The rate was 14% (45 out of 324) in nulliparas and 4.2% (15 out of 361) in multiparas. Women with sphincter injury were more likely to be nulliparous (75% [45 out of 60] vs 45% [279 out of 625]; p < 0.0001), have had an operative vaginal delivery (50% [30 out of 60] vs 36% [226 out of 625]; p = 0.03) and require internal maneuvers (50% [30 out of 60] vs 32% [198 out of 625], p = 0.004) than those with an intact sphincter. On multivariate regression analysis, these predictors of sphincter injury remained significant when adjusted for other risk factors. Episiotomy was negatively associated with sphincter injury on multivariate regression analysis. CONCLUSIONS: In a retrospective cohort of 685 women with shoulder dystocia, the risk of anal sphincter injury is 9%. Risk factors include nulliparity, operative vaginal delivery, and use of internal maneuvers, whereas episiotomy was found to have a protective effect against anal sphincter injury during cases of shoulder dystocia.


Asunto(s)
Canal Anal/lesiones , Distocia/epidemiología , Episiotomía/estadística & datos numéricos , Laceraciones/epidemiología , Hombro , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Incidencia , Laceraciones/clasificación , Laceraciones/etiología , Laceraciones/prevención & control , Embarazo , Análisis de Regresión , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
8.
Med Teach ; 40(6): 600-606, 2018 06.
Artículo en Inglés | MEDLINE | ID: mdl-29490531

RESUMEN

Whether ultrasound (US) should be incorporated into a medical undergraduate curriculum remains a matter of debate within the medical education arena. There are clear potential benefits to its early introduction particularly with respect to the study of living anatomy and physiology in addition to the learning of clinical skills and procedures required for the graduate clinical practice. However, this needs to be balanced against what is perceived as an added value in addition to financial and time constraints which may potentially lead to the sacrifice of other aspects of the curriculum. Several medical schools have already reported their experiences of teaching US either as a standalone course or as a fully integrated vertical curriculum. This article describes and discusses the initial experience of a UK medical school that has taken the steps to develop its own pragmatic vertical US curriculum based on clinical endpoints with the intent of using US to enhance the learning experience of students and equipping them with the skills required for the safe practice as a junior doctor.


Asunto(s)
Competencia Clínica , Educación de Pregrado en Medicina/organización & administración , Ultrasonografía/métodos , Curriculum , Humanos , Desarrollo de Programa , Factores de Tiempo , Reino Unido
9.
Am J Obstet Gynecol ; 216(3): 285.e1-285.e6, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27840142

RESUMEN

BACKGROUND: Intrauterine growth restriction accounts for a significant proportion of perinatal morbidity and mortality currently encountered in obstetric practice. The primary goal of antenatal care is the early recognition of such conditions to allow treatment and optimization of both maternal and fetal outcomes. Management of pregnancies complicated by intrauterine growth restriction remains one of the greatest challenges in obstetrics. Frequently, however, clinical evidence of underlying uteroplacental dysfunction may only emerge at a late stage in the disease process. With advanced disease the only therapeutic intervention is delivery of the fetus and placenta. The cerebroplacental ratio is gaining much interest as a useful tool in differentiating the at-risk fetus in both intrauterine growth restriction and the appropriate-for-gestational-age setting. The cerebroplacental ratio quantifies the redistribution of the cardiac output resulting in a brain-sparing effect. The Prospective Observational Trial to Optimize Pediatric Health in Intrauterine Growth Restriction group previously demonstrated that the presence of a brain-sparing effect is significantly associated with an adverse perinatal outcome in the intrauterine growth restriction cohort. OBJECTIVE: The aim of the Prospective Observational Trial to Optimize Pediatric Health in Intrauterine Growth Restriction study was to evaluate the optimal management of fetuses with an estimated fetal weight <10th centile. The objective of this secondary analysis was to evaluate if normalizing cerebroplacental ratio predicts adverse perinatal outcome. STUDY DESIGN: In all, 1116 consecutive singleton pregnancies with intrauterine growth restriction completed the study protocol over 2 years at 7 centers, undergoing serial sonographic evaluation and multivessel Doppler measurement. Cerebroplacental ratio was calculated using the pulsatility and resistance indices of the middle cerebral and umbilical artery. Abnormal cerebroplacental ratio was defined as <1.0. Adverse perinatal outcome was defined as a composite of intraventricular hemorrhage, periventricular leukomalacia, hypoxic ischemic encephalopathy, necrotizing enterocolitis, bronchopulmonary dysplasia, sepsis, and death. RESULTS: Data for cerebroplacental ratio calculation were available in 881 cases, with a mean gestational age of 33 (interquartile range, 28.7-35.9) weeks. Of the 87 cases of abnormal serial cerebroplacental ratio with an initial value <1.0, 52% (n = 45) of cases remained abnormal and 22% of these (n = 10) had an adverse perinatal outcome. The remaining 48% (n = 42) demonstrated normalizing cerebroplacental ratio on serial sonography, and 5% of these (n = 2) had an adverse perinatal outcome. Mean gestation at delivery was 33.4 weeks (n = 45) in the continuing abnormal cerebroplacental ratio group and 36.5 weeks (n = 42) in the normalizing cerebroplacental ratio group (P value <.001). CONCLUSION: The Prospective Observational Trial to Optimize Pediatric Health in Intrauterine Growth Restriction group previously demonstrated that the presence of a brain-sparing effect was significantly associated with an adverse perinatal outcome in our intrauterine growth restriction cohort. It was hypothesized that a normalizing cerebroplacental ratio would be a further predictor of an adverse outcome due to the loss of this compensatory mechanism. However, in this subanalysis we did not demonstrate an additional poor prognostic effect when the cerebroplacental ratio value returned to a value >1.0. Overall, this secondary analysis demonstrated the importance of a serial abnormal cerebroplacental ratio value of <1 within the <34 weeks' gestation population. Contrary to our proposed hypothesis, we recognize that reversion of an abnormal cerebroplacental ratio to a normal ratio is not associated with a heightened degree of adverse perinatal outcome.


Asunto(s)
Arterias Cerebrales/diagnóstico por imagen , Retardo del Crecimiento Fetal/diagnóstico por imagen , Ultrasonografía Doppler , Ultrasonografía Prenatal , Arterias Umbilicales/diagnóstico por imagen , Adulto , Arterias Cerebrales/fisiopatología , Femenino , Retardo del Crecimiento Fetal/fisiopatología , Edad Gestacional , Humanos , Placenta/irrigación sanguínea , Valor Predictivo de las Pruebas , Embarazo , Pronóstico , Estudios Prospectivos , Arterias Umbilicales/fisiopatología
10.
Prenat Diagn ; 36(11): 1020-1026, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27616680

RESUMEN

OBJECTIVE: To determine the underlying molecular aetiology in a non-consanguineous Irish family who have had three fetal losses because of a primary myopathy characterised by fetal akinesia, arthrogryposis multiplex, bilateral pulmonary hypoplasia and reduced muscle bulk. METHODS: Fetal DNA extracted from amniotic cells was whole genome amplified and subjected to whole exome sequencing. RESULTS: Whole exome sequencing identified compound heterozygous variants in RYR1 as the cause of the lethal myopathy in this family. All three fetuses were compound heterozygous for a paternally inherited missense variant (c.2113G > A; p.Gly705Arg) and a novel maternally inherited truncating frameshift deletion (c.8843delC; p.Ser2948Cysfs*58). This family did not have the classic cores and fibre type disproportion typically associated with RYR1 mutation. The RYR1 exome finding was made during the couple's third pregnancy and enabled prenatal genetic testing to be undertaken. CONCLUSION: We show that recessive RYR1 mutations can be associated with significant intra-familial variability in clinical presentation which can complicate prediction of clinical outcome. RYR1 mutations can also cause diverse muscle pathologies which thwarts diagnosis. This study demonstrates the impact that exome-based diagnoses can have for families with lethal disorders. © 2016 John Wiley & Sons, Ltd.


Asunto(s)
Análisis Mutacional de ADN , Enfermedades Musculares/genética , Diagnóstico Prenatal , Canal Liberador de Calcio Receptor de Rianodina/genética , Exoma , Femenino , Humanos , Masculino , Embarazo
11.
Am J Perinatol ; 33(8): 791-9, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26906182

RESUMEN

Objective A limited number of platelet function studies in intrauterine growth restriction (IUGR) have yielded conflicting results. We sought to evaluate platelet reactivity in IUGR using a novel platelet aggregation assay. Study Design Pregnancies with IUGR were recruited from 24 weeks' gestation (estimated fetal weight < 10th centile) and had platelet function testing performed after diagnosis. A modification of light transmission aggregometry created dose-response curves of platelet reactivity in response to multiple agonists at differing concentrations. Findings were compared with healthy third trimester controls. IUGR cases with a subsequent normal birth weight were analyzed separately. Results In this study, 33 pregnancies retained their IUGR diagnosis at birth, demonstrating significantly reduced platelet reactivity in response to all agonists (arachidonic acid, adenosine diphosphate, collagen, thrombin receptor-activating peptide, and epinephrine) when compared with 36 healthy pregnancy controls (p < 0.0001). Similar results were obtained for cases demonstrating an increasing in utero growth trajectory. When IUGR preceded preeclampsia or gestational hypertension, platelet function was significantly reduced compared with normotensive IUGR. Conclusion Using this comprehensive platelet assay, we have demonstrated a functional impairment of platelets in IUGR. This may reflect platelet-derived placental growth factor release. Further evaluation of platelet function may aid in the development of future platelet-targeted therapies for uteroplacental disease.


Asunto(s)
Plaquetas/fisiología , Retardo del Crecimiento Fetal/sangre , Complicaciones del Embarazo/sangre , Adulto , Estudios de Casos y Controles , Femenino , Edad Gestacional , Humanos , Factor de Activación Plaquetaria/metabolismo , Factor de Activación Plaquetaria/farmacología , Pruebas de Función Plaquetaria , Preeclampsia/sangre , Embarazo , Tercer Trimestre del Embarazo , Adulto Joven
12.
J Perinat Med ; 43(2): 165-9, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25014516

RESUMEN

BACKGROUND: Pregnant patients with cardiac disease have significantly higher predicted maternal morbidity and mortality compared to the general obstetric population. Published guidelines on optimal management of these patients recommend multidisciplinary care provision. There are few published data on the incidence of haematological complications in pregnant women with cardiac disease, although the data that does exist suggests a relatively high rate of bleeding and thrombotic events. AIMS: To determine the outcomes in terms of haematological morbidity occurring within a cohort of pregnant women with cardiac disease in the setting of multidisciplinary care provision. METHODS: Patients were identified from a database compiled by the obstetric cardiology service listing all cardiac patients managed in the Rotunda maternity hospital during the period from 2004 to 2011. Data were obtained from the medical and obstetric case notes relating to details of perinatal care and the occurrence of antenatal and postnatal complications. RESULTS: During the 8-year review period, 451 women with cardiac disease were assessed. Fifty-nine were determined to have moderate to high-risk disease. Each received consultant-delivered multidisciplinary care, where written management strategies were agreed by collaborating senior colleagues either preconceptually or in early pregnancy. No venous thromboembolic events occurred and a modest rate of post-partum haemorrhage (approximately 5%) was recorded. There were no maternal deaths. CONCLUSION: The relatively favourable outcomes observed within our institution highlight the importance of a multidisciplinary approach to the management of pregnant women with cardiac disease, particularly in scenarios where limited published evidence exists to guide management.


Asunto(s)
Cardiopatías/complicaciones , Hemorragia/etiología , Complicaciones Cardiovasculares del Embarazo/etiología , Trombosis/etiología , Adolescente , Adulto , Anticoagulantes/uso terapéutico , Estudios de Cohortes , Femenino , Hemorragia/epidemiología , Hemorragia/prevención & control , Humanos , Incidencia , Irlanda/epidemiología , Persona de Mediana Edad , Inhibidores de Agregación Plaquetaria/uso terapéutico , Embarazo , Complicaciones Cardiovasculares del Embarazo/epidemiología , Complicaciones Cardiovasculares del Embarazo/prevención & control , Estudios Retrospectivos , Trombosis/epidemiología , Trombosis/prevención & control , Adulto Joven
13.
Am J Obstet Gynecol ; 211(3): 288.e1-5, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24813969

RESUMEN

OBJECTIVE: The aim of the Prospective Observational Trial to Optimize Pediatric Health in IUGR Study was to evaluate the optimal management of fetuses with an estimated fetal weight less than the 10th centile. The objective of this secondary analysis was to describe the role of the cerebroplacental ratio (CPR) in the prediction of adverse perinatal outcome. STUDY DESIGN: More than 1100 consecutive singleton pregnancies with intrauterine growth restriction (IUGR) were recruited over 2 years at 7 centers, undergoing serial sonographic evaluation including multivessel Doppler measurement. CPR was calculated using the pulsatility and resistance indices of the middle cerebral and umbilical artery. Adverse perinatal outcome was defined as a composite of intraventricular hemorrhage, periventricular leukomalacia, hypoxic ischemic encephalopathy, necrotizing enterocolitis, bronchopulmonary dysplasia, sepsis, and death. RESULTS: Data for CPR calculation was available in 881 cases, which was performed at a mean gestational age of 33 weeks (interquarile range, 28.7-35.9). Of the 146 cases with CPR less than 1, 18% (n = 27) had an adverse perinatal outcome. This conferred an 11-fold increased risk (odds ratio, 11.7; P < .0001) when compared with cases with normal CPR (2%; 14 of 735). An abnormal CPR was present in all 3 cases of mortality. Prediction of adverse outcomes was comparable when using all definitions of abnormal CPR. CONCLUSION: Irrespective of the CPR calculation used, brain sparing is significantly associated with an adverse perinatal outcome in IUGR. This adds further weight to integrating CPR evaluation into the clinical assessment of IUGR pregnancies. The impact of this finding on long-term neurodevelopmental outcomes in this patient cohort is underway.


Asunto(s)
Encéfalo/fisiopatología , Retardo del Crecimiento Fetal/fisiopatología , Adulto , Gasto Cardíaco , Femenino , Edad Gestacional , Humanos , Arteria Cerebral Media/diagnóstico por imagen , Embarazo , Estudios Prospectivos , Ultrasonografía , Arterias Umbilicales/diagnóstico por imagen
14.
J Forensic Leg Med ; 102: 102643, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38224652

RESUMEN

BACKGROUND: Sexual violence is a crime that affects people of all genders. While focus is frequently on female survivors, it is crucial to acknowledge that males also experience sexual violence and to ensure that gender-sensitive services are available to all survivors. Understanding the prevalence of, and factors associated with, sexual violence against males is a critical first step in addressing this issue. We aim to address the lack of data in relation to sexual violence against males. METHODS: A cross-sectional study of all male attendances at 6 Sexual Assault Treatment Units (SATU) in the Republic of Ireland over a 6-year period and, where applicable, comparison with corresponding female attendances. RESULTS: There were 381 male attendances with an average age of 28.5 years over the study period, representing 7 % of all SATU patients. There was a 24 % increase in male attendances during the study period. 39.1 % presented within 24 h of the assault. 61.9 % reported the crime to the police. Employment status included 37.3 % employed, 24.9 % unemployed, and 26.2 % students, with 86.7 % being Irish nationals. Most incidents occurred on weekdays (53.3 %) and at night (56.7 %). Referrals were primarily from police (55.9 %), and psychological support was provided in 62.3 % of cases. Alcohol (60.4 %) and illicit drugs (20.5 %) were reported before assaults. 18.6 % suspected drug-facilitated assaults. Male assailants constituted 90.1 %, with 13.9 % involving multiple assailants. Male attenders were significantly more likely than females to be assaulted in their assailant's home and to be assaulted by more than one assailant. They were significantly less likely than females to report the crime to the police or to have consumed alcohol. CONCLUSION: To our knowledge, this is one of the largest case series of male patients attending a sexual assault treatment service to be published in the international literature. Male patients are a distinct group that are increasingly accessing SATU services. Significant differences exist between male and female patients' reported experiences of sexual violence. Knowledge of these factors will support appropriate tailoring of treatment & service provision, prevention and awareness strategies to help modify the impact and reduce the incidence of sexual violence in this cohort.


Asunto(s)
Víctimas de Crimen , Delitos Sexuales , Humanos , Masculino , Femenino , Adulto , Irlanda/epidemiología , Estudios Transversales , Empleo
15.
Int J Gynaecol Obstet ; 165(1): 59-66, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37675884

RESUMEN

Acute colonic pseudo-obstruction (ACPO) is an infrequent occurrence after cesarean section. Anecdotal evidence suggests that the clinical course of ACPO in the obstetric setting is different to that seen in non-pregnant adult patients with ACPO secondary to alternative causes, such as systemic illnesses, the use of certain medications, and after non-abdominal surgery. The risk of progression to ischemia and perforation, as well as the need for emergency surgery, appears to be higher after cesarean section. Here we describe the clinical course of ACPO in four patients after cesarean section from our institution, followed by a review of the literature and a discussion of the important issues surrounding this condition in the postpartum time period. The findings from our cohort of patients and the reports from the medical literature support a hands-on combined approach from a group of specialists including obstetricians, surgeons, radiologists, and enterostomal therapists. Immediate imaging followed by regular observation is mandatory for any patient being managed conservatively. Early use of endoscopic decompression should be considered for patients who are not resolving with a conservative approach. Clinical signs of peritonism or radiological signs of ischemia or perforation in patients with ACPO mandate immediate surgical intervention. Appropriate postoperative care is necessary to deal with the complex physiological and psychological consequences of emergency surgery and potential stoma formation so soon after cesarean section.


Asunto(s)
Seudoobstrucción Colónica , Adulto , Humanos , Embarazo , Femenino , Seudoobstrucción Colónica/diagnóstico , Seudoobstrucción Colónica/etiología , Seudoobstrucción Colónica/terapia , Cesárea/efectos adversos , Descompresión Quirúrgica/efectos adversos , Vértebras Lumbares/cirugía , Isquemia/complicaciones , Isquemia/cirugía , Progresión de la Enfermedad
16.
Ir J Med Sci ; 2023 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-38055147

RESUMEN

BACKGROUND: Sexual assault (SA) is a highly prevalent issue, with significant adverse health sequelae. Given that general practitioners (GPs) may serve as the first point of contact for many SA victims, their awareness of post-SA care and appropriate understanding of referral pathways to a sexual assault treatment unit (SATU) are critically important. This study evaluated GP trainees' knowledge of and comfort with post-SA care. METHODS: Educational intervention study using a didactic teaching session was delivered by a specialist forensic examiner on post-SA care. A pre and post-study questionnaire was implemented to assess participants' knowledge and comfort levels with subject material. Significance was set at p-value below 0.05. RESULTS: Seventy-five GP-trainees attended the teaching session. Fifty-three completed the pre-teaching questionnaire and 50 completed the post-teaching questionnaire. Only a minority of trainees had received prior teaching in post-SA care as a medical student (13.2% n = 7) or as a postgraduate (28.3% n = 15). After the teaching session, there was a significant improvement trainees' comfort levels in explaining a forensic examination (p < 0.0001), referral pathways to a SATU (p < 0.0001) and offering advice in relation to emergency contraception (p < 0.0001). There was also a significant improvement in understanding HIV post-exposure prophylaxis (PEP) (p < 0.001) and forensic examination (FE) time-lines (p < 0.001). CONCLUSION: This study reveals that GP-trainees have had limited exposure to teaching on post-SA care. Additionally, significant improvements were observed following a 1-h didactic teaching session on post-SA care. Trainees demonstrated increased understanding of SATU referral pathways, understanding of immediate medical care after SA, including PEP and FE timelines.

17.
Trials ; 24(1): 135, 2023 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-36814336

RESUMEN

BACKGROUND: Induction of labour (IOL) at 39 weeks has been shown to decrease maternal and neonatal adverse outcomes. Given the growing demand for 39-week IOL, it is imperative that effective methods be assessed for induction in the outpatient setting. The aim of this study is to answer the clinical question as to whether Dilapan-S® vs Propess® as a method of cervical ripening is non-inferior in the outpatient setting at 39 weeks and to ascertain whether Dilapan-S® 12 h is non-inferior to Dilapan-S® 24 h. METHODS: This study is an open-label parallel group single-centre randomised trial. Participants are normal risk nulliparous women who have no pregnancy-related or medical contraindication to IOL. Women will be randomised to one of three induction groups-Dilapan-S® (12-h insertion or 24-h insertion) or Propess. Induction will be initiated between 39+0 and 39+4 weeks' gestation and participants will return home for either 12 or 24 h. They will be readmitted 12/24 h later in order to continue with induction of labour. Patient recruitment will take place over 30 months within a single centre. The study will recruit a maximum 109 women for each study arm. Total duration of participants' involvement in the trial will be 8 weeks to allow for postpartum follow-up. DISCUSSION: This study will definitively answer whether Dilapan-S is non-inferior to Propess® as a method of induction of labour in the outpatient setting and whether cervical ripening with Dilapan-S over a 12-h timeframe is non-inferior to cervical ripening with Dilapan-S over a 24-h timeframe. TRIAL REGISTRATION: EudraCT Number 2019-004697-25 Registered 14 September 2020.


Asunto(s)
Pacientes Ambulatorios , Oxitócicos , Recién Nacido , Embarazo , Femenino , Humanos , Trabajo de Parto Inducido/métodos , Polímeros , Maduración Cervical , Ensayos Clínicos Controlados Aleatorios como Asunto
19.
J Vasc Surg ; 55(6): 1593-9, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22503181

RESUMEN

OBJECTIVE: Sac shrinkage is a surrogate marker of success after endovascular aneurysm repair (EVAR). We set out to determine if any common cardioprotective medications had a beneficial effect on sac shrinkage. METHODS: This retrospective observational study took place at Leeds Vascular Institute, a tertiary vascular unit in the Northern United Kingdom. The cohort comprised 149 patients undergoing EVAR between January 1, 2005, and December 31, 2008. Medication use was recorded at intervention (verified at study completion in 33 patients), and patients were monitored for 2 years. The main outcome measures were the effect of medication on sac shrinkage as determined by percentage change in maximal idealized cross-sectional area of the aneurysm at 1 month, 6 months, 1 year, and 2 years by linear regression model, in addition to 2-year endoleak and death rates determined by a binary logistic regression model. RESULTS: After exclusions, 112 patients, who were a median age of 78 years (interquartile range, 78-83 years), remained for analysis. The median Glasgow Aneurysm Score was 85 (interquartile range, 79-92). At 2 years, mortality was 13.4%, endoleak developed in 37.5%, and significant endoleak developed in 14.3%. Patients taking a calcium channel blocker had enhanced sac shrinkage, compared with those not taking a calcium channel blocker, by 6.6% at 6 months (-3.0% to 16.3%, P = .09), 12.3% at 1 year (2.9% to 21.7%, P = .008), and 13.1% at 2 years (0.005% to 26.2%, P = .007) independent of other medication use, graft type, endoleak development, or death. CONCLUSIONS: Enhanced sac shrinkage occurred after EVAR in patients taking calcium channel blockers. This warrants further study in other centers and at the molecular level.


Asunto(s)
Aneurisma de la Aorta Abdominal/terapia , Implantación de Prótesis Vascular , Bloqueadores de los Canales de Calcio/uso terapéutico , Procedimientos Endovasculares , Anciano , Anciano de 80 o más Años , Aneurisma de la Aorta Abdominal/diagnóstico por imagen , Aneurisma de la Aorta Abdominal/tratamiento farmacológico , Aneurisma de la Aorta Abdominal/mortalidad , Aneurisma de la Aorta Abdominal/cirugía , Aortografía/métodos , Prótesis Vascular , Implantación de Prótesis Vascular/efectos adversos , Implantación de Prótesis Vascular/instrumentación , Implantación de Prótesis Vascular/mortalidad , Endofuga/etiología , Procedimientos Endovasculares/efectos adversos , Procedimientos Endovasculares/instrumentación , Procedimientos Endovasculares/mortalidad , Inglaterra , Femenino , Humanos , Modelos Lineales , Modelos Logísticos , Masculino , Análisis Multivariante , Valor Predictivo de las Pruebas , Diseño de Prótesis , Sistema de Registros , Estudios Retrospectivos , Stents , Factores de Tiempo , Tomografía Computarizada por Rayos X , Resultado del Tratamiento
20.
Ir J Med Sci ; 191(3): 1259-1262, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34283385

RESUMEN

PURPOSE: Despite the rise of non-invasive screening tests for fetal aneuploidy, invasive testing during pregnancy remains the definitive diagnostic tool for fetal genetic anomalies. Results are rapidly available with polymerase chain reaction (PCR) tests, but cases have been reported whereby initial results were not confirmed after pregnancy termination and the fetal karyotype was ultimately normal. We sought to examine the potential discordance between PCR and karyotype for fetal aneuploidy. METHODS: The results from all amniocentesis and CVS tests performed over a 6-year period in a large tertiary level fetal medicine unit were reviewed. The results of PCR and karyotype were recorded and discrepancies examined. Pregnancy outcomes were also recorded. RESULTS: A total of 1222 invasive tests were performed (716 amniocentesis and 506 CVS). Within the cohort having amniocentesis, 11 had discrepant results (normal QF-PCR result but with a subsequent abnormal karyotype). There was 1 case among this group which QF-PCR should have identified. Within the CVS group, 7 patients had discrepant results. All had a diploid QF-PCR and would not have been identified as abnormal by it. CONCLUSION: PCR can be reliably used to determine aneuploidy of chromosomes 13, 18, and 21. However, in cases of sex chromosome aneuploidy, its performance is less reliable and warrants waiting for a complete karyotype. Given such discordance, we advise waiting for karyotype for all invasive tests performed in the presence of a normal ultrasound before advising a patient of a diploid QF-PCR result or potentially terminating a normal pregnancy.


Asunto(s)
Amniocentesis , Diagnóstico Prenatal , Amniocentesis/métodos , Aneuploidia , Femenino , Humanos , Cariotipo , Perinatología , Reacción en Cadena de la Polimerasa/métodos , Embarazo , Diagnóstico Prenatal/métodos
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