Prevalence trends of selected major birth defects: A multi-state population-based retrospective study, United States, 1999 to 2007.

BACKGROUND: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors. METHODS: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Average annual percent change (AAPC) was calculated for each birth defect. Poisson regression was used to determine change in AAPC, and joinpoint regression to identify breakpoints and changes in slope for prevalence of each defect over time. RESULTS: Between 1999 and 2001 and 2005 and 2007, four birth defects increased by 10% or more: coarctation of the aorta (17%), gastroschisis (83%), omphalocele (11%), and Down syndrome (10%). Among mothers <20 years of age, the gastroschisis AAPC increased 10.1% overall and, cross-classified by maternal race/ethnicity, the AAPC for mothers <20 years increased 9.2%, 25.7%, and 7.7% among non-Hispanic white (NHW), non-Hispanic black (NHB), and Hispanic mothers, respectively. A small increase in Down syndrome (AAPC 4.4%) was found for NHB mothers ≥35 years. CONCLUSION: No significant trends in prevalence were identified for most birth defects. Gastroschisis prevalence increased significantly among NHW and NHB mothers <20 years of age, with the greatest increases in NHB mothers. Prevalence of Down syndrome among NHB mothers ≥35 years also increased slightly. Stratified results may suggest avenues of research in birth defect etiology and in evaluating prevention efforts. Birth Defects Research 109:1442-1450, 2017.© 2017 Wiley Periodicals, Inc.

Anestesia para gestante cardiopata / Anaesthesia for pregnant cardiac disease

Gestantes com doença cardíaca habitualmente possuem prognóstico favorável tanto materno quanto fetal. Com exceção das pacientes com a síndrome de Eisenmenger, hipertensão pulmonar primária e síndrome de Marfan com aortopatia, morte materna durante a gravidez em pacientes cardiopatas é rara. A gravidez por si só impõe modificações hemodinâmicas significativas, colocando à prova o sistema cardiovascular. Doença cardíaca reumática é a mais frequente nas gestantes, e o edema agudo pulmonar, a complicação mais comum. Defeito do septo atrial é a cardiopatia congênita acianótica mais prevalente na população adulta, enquanto que a Tetralogia de Fallot é a mais frequente das cardiopatias congênitas cianóticas. Gravidez e cardiopatia são uma associação de grandes desafios para o anestesiologista. Para evitar complicações decorrentes da morbidade ou mortalidade materno-fetal, o anestesiologista deve conhecer a evolução da doença durante a gravidez. Aqui são discutidas a fisiopatologia, apresentação clínica e a condução anestésica das doenças cardíacas valvulares adquiridas, das doenças cardíacas congênitas, da doença isquêmica do miocárdio e das miocardiopatias na gravidez.

Pregnancy in most women with heart disease has a favorable maternal and fetal outcome. With the exception of patients with Eisenmenger syndrome, pulmonary hypertension primary, and Marfan syndrome with aortopathy, maternal death during pregnancy in women with heart disease is rare. Pregnancy per se imposes significant hemodynamic changes placing a major burden on the cardiovascular system. Rheumatic heart disease remains the most frequent heart disease in the pregnant population and the pulmonary edema is the most frequent complication. Atrial septal defect is the most frequent congenital acianotic heart disease in the adult population, whereas tetralogy of Fallot is the most common cyanotic congenital heart disease. Pregnancy and heart disease present a unique challenge to the anesthesiologist. To avoid untoward complications resulting in significant maternal and/or fetal morbidity or mortality, the anesthesiologist must be familiar about the progression of heart disease during pregnancy. In this article, we review the pathophysiology, clinical presentation, and anesthetic management of valvular, congenital, vascular and ischemic heart disease, and cardiomyopathy in pregnancy.

Endovascular approaches for complex forms of recurrent aortic coarctation.

PURPOSE: To review a single-center experience with endovascular treatment of recurrent aortic coarctation in adults. METHODS: Since 1998, 11 patients (9 men; mean age 48+/-15 years, range 16-63) with recurrent aortic coarctation following previous coarctation repair were referred to our institution for treatment. Clinical presentations included pseudoaneurysm (n=2), restenosis (n=3), pseudoaneurysm accompanied by restenosis (n=4), and rupture of a post-coarctation pseudoaneurysm (n=2). All patients were treated using an endovascular approach as part of a single-center investigational device exemption protocol. RESULTS: Endovascular interventions included Palmaz stent implantation (n=3), implantation of an endoluminal graft (n=2), or a combination of both treatments in 6 patients. Three patients underwent balloon angioplasty before stenting or endografting, and 2 patients had a carotid-subclavian bypass done before the endovascular repair. All repairs were technically and clinically successful. The median length of stay after repair was 2.0+/-2.3 days. In follow-up, 2 patients underwent a carotid-subclavian bypass for left upper extremity claudication. Two patients required reintervention owing to migration of the stent in 1 and an endoleak 2 years after the initial procedure in the other. CONCLUSION: Endovascular approaches to adult coarctation appear to be safe and effective. With the emergence of endoluminal grafts and the widespread availability of the Palmaz stent, endovascular repair offers an excellent alternative to open surgery for complex cases of recurrent coarctation. Additional studies are indicated to assess the long-term outcomes of these patients.

Chemical suppression of a genetic mutation in a zebrafish model of aortic coarctation.

Conventional drug discovery approaches require a priori selection of an appropriate molecular target, but it is often not obvious which biological pathways must be targeted to reverse a disease phenotype. Phenotype-based screens offer the potential to identify pathways and potential therapies that influence disease processes. The zebrafish mutation gridlock (grl, affecting the gene hey2) disrupts aortic blood flow in a region and physiological manner akin to aortic coarctation in humans. Here we use a whole-organism, phenotype-based, small-molecule screen to discover a class of compounds that suppress the coarctation phenotype and permit survival to adulthood. These compounds function during the specification and migration of angioblasts. They act to upregulate expression of vascular endothelial growth factor (VEGF), and the activation of the VEGF pathway is sufficient to suppress the gridlock phenotype. Thus, organism-based screens allow the discovery of small molecules that ameliorate complex dysmorphic syndromes even without targeting the affected gene directly.