Shone's syndrome (SS) is a rare congenital heart disease (CHD) characterised by four defects: supravalve mitral membrane, parachute mitral valve, subaortic stenosis and aortic coarctation. Incomplete forms of SS are more common and consist in the coexistence of only two or three of these left heart obstructive anomalies. To date there is limited data on prenatal diagnosis of this CHD. We report an incomplete SS diagnosed prenatally and discuss its parental counselling. A 44-year-old, G3P2, healthy woman was referred to our Fetal Medicine Department at 21 weeks of gestation with ultrasound features of CHD. There was no family history of cardiac defects and the first trimester screening for chromosomal abnormalities and major defects was normal. Fetal echocardiography identified mitral and aortic valves stenosis, with turbulent anterograde flow, subaortic interventricular communication with bidirectional flow, hypoplastic ascending aorta and aortic arch with retrograde flow to its distal portion, dilatation of right atrial and ventricle and hypoplastic left ventricle. No extracardiac anomalies were observed. There were no abnormal findings in karyotype and microarray analysis of the amniotic fluid. After a multidisciplinary evaluation, parents were informed about the clinical prognosis and opted for termination of pregnancy. Anatomopathological study corroborated the ultrasound findings. A congenital mitral valve obstruction is the main pathological event that leads to the maldevelopment of left heart outflow tract. The degree of this underdevelopment will influence clinical presentation at birth, need for medical/surgical intervention and morbimortality. In this case, prenatal echocardiography revealed features compatible with incomplete SS that was progressing to a hypoplastic left heart syndrome. These findings were crucial to provide parents the proper counseling, including implications underlying this pathology and therapeutic options.
A 31-year-old woman (gravida 2, para 1) presented at 30 weeks' gestation to the emergency room following the onset of left lower abdomen pain. The pregnancy had been uncomplicated. Ultrasonography at the time showed polyhydramnios and hydroptic changes, in addiction to an extralobar pulmonary sequestration on the left side of the thorax. Absent end-diastolic flow was seen in the umbilical artery. The woman was admitted for induction of fetal lung maturation and subsequent ultrasonography evidenced an abdominal arteriovenous shunt, compatible with a systemic aorta-porto-umbilical shunt with biphasic arterial flow (image 1). The ductus venosus was patent. A Caesarean section was performed the following day at 30 weeks and 6 days, resulting in a 2000 gr baby girl with an Apgar score of 1/2/3. The newborn died following the onset of persistent respiratory distress. Congenital hepatic arteriovenous fistulae are very rare (<1:100,000 live births). (1-3) Since Moore et al. categorised in three groups the abnormalities of the intra-abdominal umbilical vein, there have been reports upon congenital defects associated with aorta-porto-umbilical vein fistulas, although it mostly occurs isolated. (1, 2, 4) Zhou et al. described two cases of fetuses with such abnormality in association with left-sided inferior vena cava and there have also been reports of association with duodenal atresia and trisomy 21. (1, 2) To our knowledge, this is the first description of an aorta-porto-umbilical vein fistula associated with a pulmonary sequestration. Supporting information can be found in the online version of this abstract Supporting Information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
Abstract Objective To provide a survey of relevant literature on umbilical artery Doppler ultrasound use in clinical practice, technical considerations and limitations, and future perspectives. Methods Literature searches were conducted in PubMed and Medline, restricted to articles written in English. Additionally, the references of all analyzed studies were searched to obtain necessary information. Results The use of this technique as a routine surveillance method is only recommended for high-risk pregnancies with impaired placentation. Meta-analyses of randomized trials have established that obstetric management guided by umbilical artery Doppler findings can improve perinatal mortality and morbidity. The values of the indices of Umbilical artery Doppler decrease with advancing gestational age; however, a lack of consensus on reference ranges prevails. Conclusion Important clinical decisions are based on the information obtained with umbilical artery Doppler ultrasound. Future efforts in research are imperative to overcome the current limitations of the technique.
Buerger’s disease (BD), also known as thromboangiitis obliterans, is a non-atherosclerotic inflammatory disorder of unknown aetiology that affects small-sized and medium-sized vessels of the extremities. It is usually observed in middle-aged adults, especially those who smoke or use tobacco products. This condition is more frequently observed in men, although recent findings indicate an increasing prevalence among women, potentially due to increased cigarette use. The association between pregnancy and BD is rare, with only a few published cases. Previous reports have indicated that BD may worsen during gestation due to the characteristic hypercoagulable state of pregnancy. In addition, it seems to be associated with intrauterine growth restriction secondary to infarction of placental vessels. Careful obstetric management of maternal and fetal status is mandatory in pregnancies complicated with BD. We report a successful case of a pregnancy in a patient with BD treated with low-molecular-weight heparin.
To provide a survey of relevant literature on umbilical artery Doppler ultrasound use in clinical practice, technical considerations and limitations, and future perspectives. Literature searches were conducted in PubMed and Medline, restricted to articles written in English. Additionally, the references of all analyzed studies were searched to obtain necessary information. The use of this technique as a routine surveillance method is only recommended for high-risk pregnancies with impaired placentation. Meta-analyses of randomized trials have established that obstetric management guided by umbilical artery Doppler findings can improve perinatal mortality and morbidity. The values of the indices of Umbilical artery Doppler decrease with advancing gestational age; however, a lack of consensus on reference ranges prevails. Important clinical decisions are based on the information obtained with umbilical artery Doppler ultrasound. Future efforts in research are imperative to overcome the current limitations of the technique. Compilar informação relevante proveniente da literatura atual sobre a ultrassonografia Doppler das artérias umbilicais (AUs) na prática clínica, considerações e limitações técnicas e perspectivas futuras. MéTODOS: A pesquisa bibliográfica foi realizada nos bancos de dados PubMed e Medline e restringiu-se a artigos escritos na língua inglesa. Recorreu-se também à bibliografia dos artigos selecionados, quando necessário, para obter informação relevante. A utilização desta técnica como método de vigilância de rotina está apenas recomendada em gravidezes de alto risco com disfunção placentar. Metanálises de estudos randomizados mostraram que o seguimento obstétrico baseado nos achados do Doppler da artéria umbilical pode melhorar a mortalidade e a morbilidade perinatal. É consensual que os valores dos índices Doppler da AU decrescem com o avanço da idade gestacional. No entanto, há ainda muita incerteza quanto aos valores de referência. CONCLUSãO: As informações obtidas através da AU Doppler US são a base para muitas decisões clínicas importantes. Trabalhos de investigação nesta área são essenciais para tentar colmatar atuais limitações da técnica.
The aim of this article is to provide a comprehensive literature review, gathering the strongest evidence about the risks and benefits and the prescription of physical exercise during pregnancy.Regular physical exercise during pregnancy is associated with numerous benefits. In general women are not adequately advised on this matter. Along with their concerns regarding the potential associated risks, it contributes to the abandonment or refusal to start exercising during pregnancy. A systematic review was conducted in MEDLINE including articles considered to have the highest level of scientific evidence. Fifty-seven articles, including 32 meta-analysis, 9 systematic reviews and 16 randomized controlled trials were included in the final literature review.Exercise can help preventing relevant pregnancy related disorders, such as gestational diabetes, excessive gestational weight gain, hypertensive disorders, urinary incontinence, fetal macrosomia, lumbopelvic pain, anxiety and prenatal depression. Exercise is not related with an increased risk of maternal or perinatal adverse outcomes. Compliance with current guidelines is sufficient to achieve the main benefits, and exercise type and intensity should be based on woman's previous fitness level.Exercise in pregnancy is safe for both mother and fetus, contributing to prevent pregnancy related disorders. Exercise type and intensity should be adapted to woman's previous fitness level, medical history and characteristics of the ongoing pregnancy.