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OBJECTIVES: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England. This study aimed to explore parent experiences and their information and support needs from the perspective of parents offered pES and of health professionals involved in its delivery. METHODS: In this qualitative study, semi-structured interviews were conducted with 42 women and 6 male partners and 63 fetal medicine and genetic health professionals. Interviews were transcribed verbatim and analysed using thematic analysis. RESULTS: Overall views about pES were positive and parents were grateful to be offered the test. Highlighted benefits of pES included the value of the additional information for pregnancy management and planning for future pregnancies. An anxious wait for results was common, often associated with the need to make decisions near to 24 weeks in pregnancy when there are legal restrictions for late termination. Descriptions of dealing with uncertainty were also common, even when results had been returned. Many parents described pES results as informing decision-making around whether or not to terminate pregnancy. Some professionals were concerned that a non-informative result could be overly reassuring and highlighted that careful counselling was needed to ensure parents have a good understanding of what the result means for their pregnancy. Emotional support from professionals was valued; however, some parents felt that post-test support was lacking. CONCLUSION: Parents and professionals welcomed the introduction of pES. Results inform parents' decision-making around the termination of pregnancy. When there are no diagnostic findings or uncertain findings from pES, personalised counselling that considers scans and other tests are crucial. Directing parents to reliable online sources of information and providing emotional support throughout could improve their experiences of care.
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Padres , Medicina Estatal , Embarazo , Humanos , Masculino , Femenino , Secuenciación del Exoma , Padres/psicología , Inglaterra , Consejo , Investigación CualitativaRESUMEN
BACKGROUND/OBJECTIVE: Neural tube defects (NTDs) affect approximately 300,000 pregnancies worldwide each year. Many of these pregnancies are lost to miscarriage or termination of pregnancy. Here, we have analysed the trends of termination of pregnancy for NTDs from the national data for England and Wales. METHODS: Data for all terminations for residents in England and Wales for the period of 2007-2017 were obtained through Health and Social Act 4 (HSA4) submitted to the Department of Health. Using the ICD-10 codes, terminations for NTDs were selected for analysis. The statistical test Chi-squared was performed using SPSS-v25, where appropriate. RESULTS: In the 11-year period, there were 28,866 terminations under Ground E; of which 4425 (15.33%) had a diagnosis of NTD. The number of NTD cases increased over the time period from 308 in 2007 to 517 in 2017 (67.9%). Significant results were also seen when analysing the relationship between ethnicity, gestation and terminations where an NTD was diagnosed. CONCLUSION: With the availability of routine prenatal ultrasound, the termination for NTDs is on the rise in England and Wales, in spite of the health advice of periconceptional folic acid. This study demonstrates the need for implementation of further programmes to increase public health awareness of folic supplementation and government initiation of fortification to reduce NTDs.
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Aborto Inducido/estadística & datos numéricos , Defectos del Tubo Neural/cirugía , Aborto Inducido/métodos , Adulto , Inglaterra/epidemiología , Femenino , Humanos , Defectos del Tubo Neural/epidemiología , Embarazo , Prevalencia , Estudios Prospectivos , Gales/epidemiologíaRESUMEN
AIM: The incidence of congenital heart disease (CHD) accounts for the largest proportion of infant mortality attributable to birth defects. Associations have previously been reported between CHD and low birthweight. Low birthweight is independently associated with adverse outcome and has characteristically been calculated using population-based charts. This aim of this study was to determine the incidence of small for gestational age (SGA) in fetuses with CHD utilizing customized birthweight centiles and to determine the effect of SGA on adverse outcome. METHODS: A retrospective cohort study was performed between 2006 and 2011. All singleton fetuses with CHD, with no associated karyotype or structural extra-cardiac abnormalities, who delivered at St Thomas's Hospital, London, were included. Population and customized birthweight centiles were calculated and perinatal outcome data were recorded. RESULTS: A total of 17% of fetuses with CHD had a birthweight centile <10th when population centiles were used, and 25% when customized birthweight centiles were applied. There was no correlation between SGA and increased adverse perinatal outcome. CONCLUSIONS: A high proportion of fetuses with CHD are classified as SGA when both population and customized birthweight centiles are used. SGA does not correlate with adverse outcome in the perinatal period. The cardiac defect therefore appears to be the main determinant of outcome and not the size of the baby at delivery.
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Retardo del Crecimiento Fetal/fisiopatología , Cardiopatías Congénitas/complicaciones , Adulto , Peso al Nacer , Estudios de Cohortes , Inglaterra/epidemiología , Femenino , Retardo del Crecimiento Fetal/epidemiología , Retardo del Crecimiento Fetal/mortalidad , Estudios de Seguimiento , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/mortalidad , Cardiopatías Congénitas/fisiopatología , Hospitales Urbanos , Humanos , Incidencia , Recién Nacido , Recién Nacido Pequeño para la Edad Gestacional , Masculino , Mortalidad Perinatal , Embarazo , Resultado del Embarazo , Diagnóstico Prenatal , Derivación y Consulta , Estudios Retrospectivos , Riesgo , Adulto JovenRESUMEN
OBJECTIVES: The aim of this study was to determine the timing of neonatal cardiac intervention in babies with antenatally diagnosed congenital heart disease and the impact on obstetric management. METHODS: A retrospective review of all deliveries between January, 2008 and December, 2009 was conducted in a tertiary centre with foetal and paediatric cardiology, maternal-foetal medicine, and obstetric units. All live births with antenatally detected congenital heart disease were included. Data were collected from foetal, paediatric cardiology, and maternity databases and records. Induction, delivery mode, and timing of the first cardiac intervention in the neonate were studied. RESULTS: 205 deliveries were included. Induction and elective Caesarean section rates were 51.2% (105/205) and 14.1% (29/205), respectively. The vaginal delivery rate was 56% (115/205). There was a non-significant trend towards a higher rate of vaginal delivery after spontaneous labour than after induction (75% versus 66%; p = 0.234). The rate of neonatal cardiac intervention during the initial stay was 59.5% (122/205); it was 18.5% (38/205) within 48 hours and 25.8% (53/205) within 72 hours. The median time to first intervention was 4 days (interquartile range 2-8). Babies with hypoplastic left heart syndrome (median 3, interquartile range 2-6), transposition of the great arteries (median 1, interquartile range 0-4.5), and arrhythmia (median 0.5, interquartile range 0-1) had a significantly earlier time to first intervention compared with those with other conditions (p = 0.001). CONCLUSION: Vaginal delivery can be achieved in women delivering babies with major congenital heart disease at a tertiary centre. Delivery in or near a tertiary centre is recommended for patients requiring early intervention, of which many can be identified in advance.
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Cardiopatías Congénitas/cirugía , Adulto , Procedimientos Quirúrgicos Cardíacos , Parto Obstétrico , Femenino , Enfermedades Fetales/diagnóstico , Cardiopatías Congénitas/diagnóstico , Humanos , Recién Nacido , Embarazo , Diagnóstico Prenatal , Estudios Retrospectivos , Centros de Atención Terciaria , Factores de TiempoRESUMEN
Feticide is the practice of inducing fetal demise before the termination of pregnancy. In England and Wales, it is recommended for terminations of pregnancy beyond 21+6 weeks of gestation. This project analyses the trends in feticide in singleton pregnancy in England and Wales between 2012 and 2020. This project was a retrospective study that analysed data extracted from the Health and Social Act 4 (HSA4) forms submitted to the Department of Health and Social Care (DHSC). The data extracted by the DHSC included the prevalence of feticide, methods of feticide and termination, statutory grounds, gestation, service provider, maternal age, ethnicity and obstetric history. In addition, data analysis was carried out to identify trends. Between 2012 and 2020, there were 9310 feticides in England and Wales, undertaken in 0.5% of all abortions. The prevalence of feticide fluctuated; however, there was an overall decrease from 1084 cases in 2012 to 1000 cases in 2020. Intracardiac injection of potassium chloride was the most frequent method of achieving feticide (67.2%). Just over half (55.8%) of feticides took place under Ground E of the Abortion Act 1967, with the main indication being congenital malformations of the nervous system. Two-fifths (40.2%) of feticides took place at 23 weeks, 22.8% at 22 weeks and 13.5% between 20 and 21 weeks. The remainder occurred at later gestations: 17.5% at 24-29 weeks and 5.9% beyond 29 weeks. During our study period, it was more common for feticides to be carried out as part of a medical termination than a surgical termination and 60.3% occurred in NHS hospitals. Women undergoing feticide were mostly aged 30-34 years (38.3%) and of White ethnicity (78.6%). Feticide is an essential component of comprehensive abortion care for women undergoing late second and third-trimester abortions. This study provides insight into how feticide is carried out in England and Wales and demonstrates the effect of the COVID-19 pandemic on reducing feticide prevalence. Future research should analyse in more detail the use of the different methods of feticide.
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Aborto Inducido , Aborto Espontáneo , Embarazo , Femenino , Humanos , Estudios Transversales , Estudios Retrospectivos , Gales/epidemiología , PandemiasRESUMEN
Background: Isolated fetal ventriculomegaly can have a range of consequences, ranging from mild neurodevelopmental delay to perinatal death; the extent of these consequences often depend on the severity of ventriculomegaly. This systematic review and meta-analysis aims to investigate the impact of the degree of ventricular dilatation on the risk of neurodevelopmental delay and adverse perinatal outcomes in fetuses diagnosed with isolated fetal ventriculomegaly from gestational week 15 onwards. Methods: PubMed, Embase, Scopus and the Cochrane Library were searched electronically to identify studies investigating the prognosis of mild and/or severe isolated fetal ventriculomegaly. Articles were included if they reported neurodevelopmental or perinatal outcomes in fetuses prenatally diagnosed with isolated fetal ventriculomegaly from week 15 of gestation and onwards. Studies were excluded if they reported on non-isolated ventriculomegaly (IVM), failed to specify the degree of ventriculomegaly, were non-English papers, animal studies or published outside of the 21-year period of interest. Study quality was assessed by two independent reviewers using a modified version of the Newcastle-Ottawa Quality Assessment Scale. Ventriculomegaly was defined as either mild or severe when ventricular diameter measured as 10-15 or >15 mm, respectively. Meta-analyses were conducted for adverse neurodevelopmental outcome, intrauterine fetal demise and infant mortality. Results: Following the removal of duplicates, the search yielded 2,452 citations, of which 23 studies were included and 8 were eligible for meta-analysis. There were 767 and 347 cases of mild and severe isolated fetal ventriculomegaly, respectively. Adverse outcomes were consistently reported at a higher rate in severe cases than mild. The relative risks of adverse neurodevelopmental outcome, intrauterine fetal demise and infant mortality were 4.24 [95% confidence interval (CI): 2.46-7.30], 4.46 (95% CI: 1.64-12.11) and 6.02 (95% CI: 1.73-21.00), respectively, upon comparison of mild versus severe cases of isolated fetal ventriculomegaly. Conclusions: The likelihood of adverse neurodevelopmental and perinatal outcomes, including intrauterine and infant mortality, is increased in severe isolated fetal ventriculomegaly compared to mild isolated fetal ventriculomegaly.
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The detection of developmental abnormalities in the foetus is considered an essential component of antenatal screening. Among the most frequently identified sonographically, and possibly one of the easiest recognised, are those affecting the urinary tract, with an incidence of 1-4 in 1000 pregnancies. As such, foetal urological abnormalities represent up to 30% of all prenatally diagnosed congenital anomalies. We analysed information recorded on the Health and Social Act 4 (HSA4) forms submitted to the Department of Health and Social Care (DHSC) for 2015 to 2019. There were 915 cases of termination of pregnancy for foetal urological anomaly between 2015 and 2019 in England and Wales, representing 0.09% of total abortions. There has been a steady increase in cases, from 186 in 2015 to 222 in 2018, followed by a more recent decline in 2019 to 172. All 915 cases were justified under Ground E of The Abortion Act 1967. Most terminations of pregnancy for foetal urological anomaly were carried out at 20 weeks gestation. Isolated urinary tract single diagnoses were the commonest, with megacystis being the most prevalent, followed by bilateral renal agenesis and bilateral cystic kidneys. Nearly a third of cases (32.2%) were performed in women aged 30-34 years, and almost 4/5 of women (78.7%) were of White ethnicity. Foetal urological abnormality is a complex issue affecting a significant minority of pregnant women. When severe abnormalities are detected by prenatal diagnosis, most women choose to terminate the pregnancy.
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Enfermedades Fetales , Diagnóstico Prenatal , Embarazo , Femenino , Humanos , Estudios Transversales , Gales/epidemiología , Riñón , Ultrasonografía PrenatalRESUMEN
BACKGROUND: Twin anemia polycythemia sequence is a rare complication in monochorionic twin pregnancy. CASE PRESENTATION: We describe a case of dichorionic twin pregnancy presenting with suspected twin anemia polycythemia sequence. A 31-year-old White female, on her third pregnancy, had a routine ultrasound scan at 12 weeks gestation, which demonstrated a dichorionic twin pregnancy with one placenta located in the anterior wall and the other in the posterior wall of the uterus. At 21 weeks, a scan demonstrated a 24% growth discordance between the two fetuses with normal Doppler studies and amniotic fluid. At 27 weeks, one twin showed signs of anemia and the other polycythemia; the fetal middle cerebral artery peak systolic velocity was high in the anemic fetus and low in the polycythemic twin (1.8 and 0.5 multiples of the median). An intrauterine blood transfusion was carried out and this increased the fetal hemoglobin concentration in the anemic twin from 3.5 to 12.5 g/dL. At 29 weeks, delivery by cesarean section was carried out because of evidence from middle cerebral artery peak systolic velocity of recurrence of anemia in one twin and worsening polycythemia in the co-twin; at birth the hemoglobin concentrations were 5.6 and 24.9 g/dL, respectively. Histopathological examination confirmed dichorionicity with no communicating vessels between the two placentas. CONCLUSIONS: This is the first case of twin anemia polycythemia sequence in a dichorionic, diamniotic twin pregnancy where intrauterine blood transfusion was used to prolong the pregnancy by almost 2 weeks in a "twin anemia polycythemia sequence-like" setting.
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Anemia , Transfusión Feto-Fetal , Policitemia , Recién Nacido , Embarazo , Humanos , Femenino , Adulto , Embarazo Gemelar , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/diagnóstico por imagen , Cesárea/efectos adversos , Policitemia/complicaciones , Policitemia/diagnóstico por imagen , Gemelos Monocigóticos , Ultrasonografía Prenatal/efectos adversos , Anemia/etiologíaRESUMEN
Selective abortion was shown to be increasingly common in England and Wales over a 9-year period, occurring most frequently as twin to singleton reductions in the 1st trimester. We analysed the trends in selective abortion (SA) in multiple pregnancies in England and Wales between 2009 and 2018. This is a cross-sectional study looking at 1143 women with multiple pregnancies in England and Wales undergoing SA. There were a total of 1143 cases of SA between 2009 and 2018 in England and Wales, representing 0.07% of total abortions. There has been a steady increase in cases, from 90 in 2009 to 131 in 2018, with 82.3% justified under ground E of The Abortion Act 1967. The majority of SAs were carried out at 13-19 weeks gestation, and intracardiac injection of potassium chloride was the most prevalent method (75%). Twin to singleton reductions accounted for 59%, the most common form of SAs. Over half of all cases (59%) were performed in women aged 30-39 years, and 84% of all women were of White ethnicity. SA has been an option available for couples diagnosed with multiple pregnancy, especially when there are discordant anomalies. Although SA may decrease multiple pregnancy-related complications, preventative methods must be championed.
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Aborto Inducido/tendencias , Reducción de Embarazo Multifetal/tendencias , Embarazo Múltiple , Aborto Inducido/legislación & jurisprudencia , Adulto , Estudios Transversales , Inglaterra , Femenino , Humanos , Embarazo , Reducción de Embarazo Multifetal/legislación & jurisprudencia , Estudios Retrospectivos , GalesRESUMEN
BACKGROUND: X-linked sideroblastic anaemia (XLSA) is commonly due to mutations in the ALAS2 gene and predominantly affects hemizygous males. Heterozygous female carriers of the ALAS2 gene mutation are often asymptomatic or only mildly anaemic. XLSA is usually characterized by microcytic erythrocytes (reduced mean corpuscular volume (MCV)) and hypochromia, along with increased red cell distribution width. However, in females with XLSA the characteristic laboratory findings can be dimorphic and present with macrocytic (elevated MCV) in addition to microcytic red cells. CASE PRESENTATION: We report a case of fetal anaemia, presenting in the early third trimester of pregnancy, in a female fetus. Ultrasound findings at 29 weeks were of cardiomegaly, prominent umbilical veins, a small rim of ascites, and mean cerebral artery peak systolic velocity (PSV) value above 1.5 Multiples of the Median (MoM). She underwent non-invasive prenatal testing that determined the rhesus genotype of the fetus to be rhesus B negative. No red blood cell antibodies were reported. Other investigations to determine the underlying cause of fetal anaemia included microarray comparative genomic hybridization, serology to exclude congenital infection and a peripheral blood film and fetal bilirubin to detect haemolysis. The maternal grandmother had a history of sideroblastic anaemia diagnosed at the age of 17 years. The mother had mild macrocytic anaemia with haemoglobin of 10.4 g/dl and MCV of 104 fl. The fetal anaemia was successfully treated with two in utero transfusions (IUTs), and delivery occurred via caesarean section at 37 weeks of gestation. The red cell gene sequencing in both the mother and fetus were heterozygous for an ALAS2 mutation causing in utero manifestations of XLSA. The haemoglobin on discharge to the local hospital at five days of age was 19.1 g/dl. Subsequently, the infant became anaemic, requiring regular 3-4 monthly blood transfusions and demonstrating overall normal development. Her anaemia was unresponsive to pyridoxine. CONCLUSIONS: This is one of four cases reporting multiple female members presenting with discordant clinical features of XLSA from being entirely asymptomatic to hydropic in utero. Our report is novel in that there are no previous cases in the literature of anaemia in a female fetus heterozygous for ALAS2 mutation.
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5-Aminolevulinato Sintetasa , Anemia Sideroblástica , Enfermedades Genéticas Ligadas al Cromosoma X , 5-Aminolevulinato Sintetasa/genética , Anemia Sideroblástica/genética , Cesárea , Hibridación Genómica Comparativa , Femenino , Feto/diagnóstico por imagen , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Humanos , Masculino , Linaje , EmbarazoRESUMEN
BACKGROUND: Infants born preterm are at increased risk of neurological complications resulting in significant morbidity and mortality. The exact mechanism and the impact of antenatal factors has not been fully elucidated, although antenatal infection/inflammation has been implicated in both the aetiology of preterm birth and subsequent neurological sequelae. It is therefore hypothesized that processes driving preterm birth are affecting brain development in utero. This study aims to compare MRI derived regional brain volumes in fetuses that deliver < 32 weeks with fetuses that subsequently deliver at term. METHODS: Women at high risk of preterm birth, with gestation 19.4-32 weeks were recruited prospectively. A control group was obtained from existing study datasets. Fetal MRI was performed on a 1.5 T or 3 T MRI scanner: T2-weighted images were obtained of the fetal brain. 3D brain volumetric datsets were produced using slice to volume reconstruction and regional segmentations were produced using multi-atlas approaches for supratentorial brain tissue, lateral ventricles, cerebellum cerebral cortex and extra-cerebrospinal fluid (eCSF). Statistical comparison of control and high-risk for preterm delivery fetuses was performed by creating normal ranges for each parameter from the control datasets and then calculating gestation adjusted z scores. Groups were compared using t-tests. RESULTS: Fetal image datasets from 24 pregnancies with delivery < 32 weeks and 87 control pregnancies that delivered > 37 weeks were included. Median gestation at MRI of the preterm group was 26.8 weeks (range 19.4-31.4) and control group 26.2 weeks (range 21.7-31.9). No difference was found in supra-tentorial brain volume, ventricular volume or cerebellar volume but the eCSF and cerebral cortex volumes were smaller in fetuses that delivered preterm (p < 0.001 in both cases). CONCLUSION: Fetuses that deliver preterm have a reduction in cortical and eCSF volumes. This is a novel finding and needs further investigation. If alterations in brain development are commencing antenatally in fetuses that subsequently deliver preterm, this may present a window for in utero therapy in the future.
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Recien Nacido Extremadamente Prematuro , Nacimiento Prematuro , Encéfalo/diagnóstico por imagen , Femenino , Feto , Edad Gestacional , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Proyectos Piloto , Embarazo , Nacimiento Prematuro/diagnóstico por imagenRESUMEN
The ideal medical therapy for fibroids is, arguably, a tablet that is taken by mouth, once a day or, even better, once a week, with minimal, if any, side-effects, that induces fibroid regression and thus a resolution of symptoms rapidly, but without affecting fertility. Such a magic bullet does not yet exist, and there are no indications that one is on the horizon. Driven by the observation that fibroid growth is hormone dependent, current medical treatments mainly involve hormonal manipulations. Gonadotrophin-releasing hormone analogues (GnRHa) have been the most widely used, and while they do cause fibroid regression, they can only be used in the short term, as temporizing measures in the perimenopausal woman, or pre-operatively to reduce fibroid size, influence the type of surgery, restore haemoglobin levels and apparently reduce blood loss at operation. They are notorious for rebound growth of the fibroids upon cessation of therapy, and have major side-effects. GnRH antagonists avoid the initial flare effect seen with GnRHa therapy, but otherwise do not appear to have any additional advantages over GnRHa. Selective oestrogen receptor modulators, such as raloxifene, have been shown to induce fibroid regression effectively in post-, but not pre-, menopausal women; even in the former group, experience with these drugs is limited, and they are associated with significant side-effects. Aromatase inhibitors only appear to be effective in postmenopausal women, have potentially significant long-term side-effects, and experience with their use is also limited. There are suggestions that the levonorgestrel intra-uterine system can cause dramatic reduction in menstrual flow in women with fibroids, but to date there have been no RCTs of its use in these women, in whom rates of expulsion of the device appear to be high. The progesterone antagonists mifepristone and asoprisnil have shown significant promise and warrant further research, as they appear to show efficacy in inducing fibroid regression without major side-effects. However, they and the other hormonal therapies that alter oestrogen and progesterone production or function significantly (danazol, gestrinone) are not compatible with reproduction. Therefore, the quest for the ideal medical therapy for fibroid disease continues, and increasing understanding of fibroid biology is ushering in non-hormonal therapies, although all are confined to laboratory experimentation at present. In the meantime, surgical and radiological approaches remain the mainstay effective therapies.
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Antineoplásicos Hormonales/uso terapéutico , Leiomioma/tratamiento farmacológico , Neoplasias Uterinas/tratamiento farmacológico , Quimioterapia Combinada , Femenino , Hormona Liberadora de Gonadotropina/agonistas , Hormona Liberadora de Gonadotropina/antagonistas & inhibidores , Hormona Liberadora de Gonadotropina/uso terapéutico , Antagonistas de Hormonas/uso terapéutico , Humanos , Progesterona/antagonistas & inhibidoresAsunto(s)
Aborto Espontáneo , Medida de Translucencia Nucal/métodos , Embarazo Múltiple , Gemelos , Ultrasonografía Prenatal/métodos , Aborto Espontáneo/diagnóstico por imagen , Adulto , Cromosomas Humanos Par 18 , Diagnóstico Diferencial , Síndrome de Down/diagnóstico , Femenino , Humanos , Tamizaje Masivo/métodos , Embarazo , Trisomía/diagnósticoRESUMEN
Pulmonary hypertension is associated with 36% mortality in pregnancy, and 6-10% of patients with sickle cell disease have pulmonary hypertension. Tricuspid regurgitant velocity ≥2.5 m/s on echocardiography is a well validated means of screening for pulmonary hypertension in the non-pregnant population. This is a pilot study to determine if this is a useful non-invasive screening test for pulmonary hypertension in pregnancy, and whether raised tricuspid regurgitant velocity ≥2.5 m/s was associated with poor outcomes. This is a cross-sectional study over a five-year period in a tertiary referral centre with a specialised multidisciplinary clinic for pregnant women with sickle cell disease. Women with sickle cell disease, no prior pulmonary hypertension and singleton pregnancies who had echocardiography with a measurable tricuspid regurgitant velocity in pregnancy were included. There were 34 pregnancies, of which eight had tricuspid regurgitant velocity ≥2.5 m/s. There were no significant differences in their characteristics, sickle cell-related complications or medical co-morbidities. The women with tricuspid regurgitant velocity ≥2.5 m/s had similar obstetric and perinatal outcomes as those with a tricuspid regurgitant velocity <2.5 m/s.
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OBJECTIVE: Counselling women where severe growth abnormalities are detected early in the pregnancy is often difficult due to a paucity of outcome data of this specific subset of early onset disease. This study therefore aimed to assess the outcome of pregnancies where an estimated fetal weight less than the third centile were detected prior to 24 weeks gestation. STUDY DESIGN: A retrospective study in two London teaching hospitals, over an eight year period was performed, analysing all pregnancies with an ultrasound estimated fetal weight less than the third centile prior to 24 weeks gestation. Outcome data: intrauterine death, neonatal death, survival to discharge, gestation at delivery and birthweight were collected. RESULTS: Out of 20 pregnancies included in the analysis, six died in utero, two died in the neonatal period and 12 (60%) survived until discharge. Of the livebirths, 67% delivered preterm and 100% percent of livebirths were delivered by Caesarean Section. CONCLUSION: When severe growth abnormalities were detected before 24 weeks, more than half of pregnancies resulted in survival to neonatal discharge. There was an increased incidence of preterm delivery, caesarean section and neonatal unit admission. This information is useful in counselling parents.
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Retardo del Crecimiento Fetal/diagnóstico por imagen , Peso Fetal , Edad Gestacional , Adulto , Velocidad del Flujo Sanguíneo , Cesárea , Femenino , Muerte Fetal , Retardo del Crecimiento Fetal/fisiopatología , Humanos , Recién Nacido , Nacimiento Vivo , Muerte Perinatal , Embarazo , Segundo Trimestre del Embarazo , Nacimiento Prematuro/etiología , Estudios Retrospectivos , Tasa de Supervivencia , Ultrasonografía Doppler , Ultrasonografía Prenatal , Arteria Uterina/fisiologíaRESUMEN
OBJECTIVE: To explore if blood pressure (BP) readings over 24 h is a useful addition to uterine artery Doppler to screen for hypertensive disorders. METHODS: In a prospective observational study, we invited nulliparous women with abnormal and normal uterine artery Doppler but normal BP at the time of their routine anomaly scan. BP was measured by the woman using automated apparatus at five specified time intervals over 24 h at 22-24 weeks. Pregnancy outcome was retrieved from delivery suite records, discharge summaries, and letters to general practitioners if necessary. Logistic regression was used to explore the contribution of uterine artery Doppler and BP measurements towards the development of pre-eclampsia. RESULTS: Data were available from 52 women with abnormal and 48 women with normal uterine artery Doppler. Thirteen women developed hypertension in pregnancy. Significant difference was found in the BP of women who did or did not develop hypertensive disorders. BP recordings showed the diurnal variation. Both uterine artery Doppler mean PI and BP showed significant correlation with future development of hypertension. CONCLUSIONS: Women can self-measure BP at home. BP readings show diurnal variation. There are significant differences in BP of women who do and do not develop hypertension later in the pregnancy. Use of home BP monitoring over 24 h of the day in mid-pregnancy is unlikely to add to the use of uterine artery Doppler and a one-off BP reading for future development of hypertension in pregnancy.
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Monitoreo Ambulatorio de la Presión Arterial , Preeclampsia/diagnóstico , Arteria Uterina/diagnóstico por imagen , Adulto , Presión Sanguínea , Femenino , Humanos , Modelos Logísticos , Tamizaje Masivo , Preeclampsia/fisiopatología , Embarazo , Segundo Trimestre del Embarazo/fisiología , Estudios Prospectivos , Ultrasonografía , Arteria Uterina/fisiopatologíaRESUMEN
Immune thrombocytopenia (ITP) is not infrequently encountered during reproductive years with an estimated incidence of 0.1-1 per 1000 pregnancies. An international consensus group recently re-defined ITP and outlined standardized response criteria and up-to-date investigation and management. The pathogenesis encompasses autoantibody platelet destruction and immune-mediated decreased platelet production. Maternal antibodies may cross the placenta and have the potential to cause fetal and/or neonatal thrombocytopenia. The diagnosis and subsequent management of ITP in pregnancy requires a multidisciplinary approach involving the midwife, obstetrician, haematologist and anaesthetist. Women with ITP diagnosed prior to pregnancy should receive preconception counselling to outline potential treatments and provide information regarding expected maternal and neonatal outcome. Management prior to 36 weeks aims to avoid treatment in the absence of bleeding and ensure an acceptable platelet count for planned procedures. At 34-36 weeks, women are generally reviewed to consider whether a tailored course of treatment is required in preparation for delivery. Further research is required to determine a suitable platelet count for neuraxial anaesthesia. The mode of delivery should be guided by obstetric indication. It is pertinent to consider both the risk of maternal bleeding and thrombosis in maternal ITP. The risk of neonatal intracranial haemorrhage in association with ITP is less than 1%. Postpartum a cord blood platelet count should be checked. Additional management is dependent upon the neonatal platelet count. Data collection using the new standardized terminology should provide robust comparable epidemiological data regarding ITP in pregnancy.
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Intrauterine growth restriction (IUGR) is a major cause of perinatal mortality and morbidity. A complex and dynamic interaction of maternal, placental and fetal environment is involved in ensuring normal fetal growth. An imbalance or lack of coordination in this complex system may lead to IUGR. Animal studies have given us an insight into some aspects of the basic pathophysiology of IUGR, and recent technologies such as Doppler studies of maternal and fetal vessels have added further information. The aetiologies of IUGR are diverse, involving multiple complex mechanisms, which make understanding of the pathophysiology difficult. However, particular focus is placed on the mechanisms involved in uteroplacental insufficiency as a cause of IUGR, as (1) it is common, (2) outcome can be good if timing of delivery is optimal and (3) it may be amenable to therapy in the future. While the research into the pathophysiology of IUGR continues, there have been interesting discoveries related to the genetic contribution to IUGR and the intrauterine programming of adult-onset diseases attributed to IUGR.
Asunto(s)
Desarrollo Fetal/fisiología , Retardo del Crecimiento Fetal/etiología , Encefalopatías/embriología , Enfermedades Cardiovasculares/embriología , Enfermedades del Sistema Endocrino/embriología , Femenino , Enfermedades Gastrointestinales/embriología , Enfermedades Genéticas Congénitas/embriología , Edad Gestacional , Humanos , Enfermedades Renales/embriología , Enfermedades Pulmonares/embriología , Enfermedades Musculares/embriología , Enfermedades Placentarias/fisiopatología , Circulación Placentaria/fisiología , Embarazo , Complicaciones Infecciosas del Embarazo/fisiopatología , Efectos Tardíos de la Exposición Prenatal/etiología , Fenómenos Fisiologicos de la Nutrición Prenatal/fisiologíaRESUMEN
PURPOSE OF REVIEW: There is controversy about the best approach to screening and management for gestational diabetes. In the recent Confidential Enquiry in Maternal and Child Health (CEMACH) the outcome of women with diabetes compared with women without diabetes. The results were exceptionally poor, suggesting the need for a new management approach. The aim of this review is to address these findings and our suggested care pathways. RECENT FINDINGS: The CEMACH report showed the congenital malformation rate was four to 10-fold higher, the perinatal mortality rate was four to seven-fold higher, stillbirth was five times more common, and babies were three times more likely to die in the first 3 months of life. Only 39% of women with established diabetes took folic acid and only 37% had some documentation of glycaemic control before pregnancy. Overall, less than a fifth of NHS trusts in the UK had any kind of multidisciplinary preconception services. The results for women with type 2 diabetes were as bad as those for type 1. Caesarean delivery rates were very high (67%). SUMMARY: Prepregnancy counselling and multidisciplinary team management is the key in achieving good pregnancy outcomes. There is emerging evidence about the safety and efficacy of oral hypoglycaemics like metformin in pregnancy.