Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single‐center experience and review of the literature

Wertaschnigg, Dagmar; Jaeggi, Michelle; Chitayat, David; Shannon, Patrick; Ryan, Greg; Thompson, Michael; Yoo, Shi‐Joon; Jaeggi, Edgar

doi:10.1002/uog.11193

Cited by 62 publications

(84 citation statements)

References 26 publications

(64 reference statements)

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“…Among 22,451 miscarriage samples with fetal results, we observed the 22q11.2 deletion at an overall incidence of 1/1497, which is significantly more frequent than the reported population prevalence of 1/4000–1/6000 [4, 5]. Possible explanations for this discrepancy include the published general population prevalence potentially being an underestimate, and/or that some affected fetuses have major anomalies that lead to fetal demise [17, 18]. For example, it is known, that cardiac defects are the primary cause [87%] of mortality in infants with the deletion [1].…”

Section: Discussionmentioning

confidence: 72%

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

et al. 2017

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BackgroundThe 22q11.2 deletion syndrome is the most common microdeletion syndrome in livebirths, but data regarding its incidence in other populations is limited and also include ascertainment bias. This study was designed to determine the incidence of the 22q11.2 deletion in miscarriage samples sent for clinical molecular cytogenetic testing.ResultsTwenty-six thousand one hundred one fresh product of conception (POC) samples were sent to a CLIA- certified, CAP-accredited laboratory from April 2010–-May 2016 for molecular cytogenetic miscarriage testing using a single-nucleotide polymorphism (SNP)-based microarray platform. A retrospective review determined the incidence of the 22q11.2 deletion in this sample set. Fetal results were obtained in 22,451 (86%) cases, of which, 15 (0.07%) had a microdeletion in the 22q11.2 region (incidence, 1/1497). Of those, 12 (80%) cases were found in samples that were normal at the resolution of traditional karyotyping (i.e., had no chromosome abnormalities above 10 Mb in size) and three (20%) cases had additional findings (Trisomy 15, Trisomy 16, XXY). Ten (67%) cases with a 22q11.2 deletion had the common ~3 Mb deletion; the remaining 5 cases had deletions ranging in size from 0.65 to 1.5 Mb. A majority (12/15) of cases had a deletion on the maternally inherited chromosome. No significant relationship between maternal age and presence of a fetal 22q11.2 deletion was observed.ConclusionsThe observed incidence of 1/1497 for the 22q11.2 deletion in miscarriage samples is higher than the reported general population prevalence (1/4000–1/6000). Further research is needed to determine whether the 22q11.2 deletion is a causal factor for miscarriage.

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Section: Discussionmentioning

confidence: 72%

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

et al. 2017

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“…Fetal echocardiography demands detailed evaluation of cardiac anatomy and cardiac function with 2D imaging, M-mode imaging (for rhythm assessment), and Doppler interrogation that goes beyond the basic screening examination typically used in obstetric ultrasound. Guidelines for training for physicians who evaluate [158][159][160] Progressive atrioventricular or semilunar valve obstruction 155,161,162 Progressive atrioventricular valve, ventricular, great artery, branch pulmonary artery, and arch hypoplasia secondary to obstructive lesions or reduced blood flow 136,161,[163][164][165][166] Development of myocarditis or cardiomyopathy [167][168][169][170] Progressive myocardial dysfunction secondary to structural, functional, or rhythm disturbances that may lead to the evolution of hydrops or sudden fetal demise and interpret these specialized examinations exist; a detailed discussion is outside the scope of this document and may vary regionally. It is recommended that only well-trained or experienced pediatric cardiologists, maternal-fetal medicine specialists, obstetricians, or radiologists who have acquired the appropriate knowledge base and skills should supervise and perform fetal echocardiograms.…”

Section: Responsible Personnelmentioning

confidence: 99%

“…164,218 Chamber size discrepancy with a smaller left relative to right side of the heart could be secondary to altered pulmonary venous return 219 or a restrictive foramen ovale. 178 It may also occur as a consequence of right heart pathology that leads to an increased volume load to the right heart, including tricuspid 158,159 or pulmonary insufficiency, 160 severe pulmonary outflow obstruction, 220 or ductus arteriosus constriction. 173 Right heart dilation may also be observed in the presence of arteriovenous malformations such as vein of Galen aneurysm 221 or in agenesis of the ductus venosus where umbilical venous return results in preferential streaming to the right heart.…”

Section: Cardiac Biometrymentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

979

543

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Background— The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease. Methods and Results— A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of cardiac function and the cardiovascular system, and available treatment options. The American College of Cardiology/American Heart Association classification of recommendations and level of evidence for practice guidelines were applied to the current practice of fetal cardiac medicine. Recommendations relating to the specifics of fetal diagnosis, including the timing of referral for study, indications for referral, and experience suggested for performance and interpretation of studies, are presented. The components of a fetal echocardiogram are described in detail, including descriptions of the assessment of cardiac anatomy, cardiac function, and rhythm. Complementary modalities for fetal cardiac assessment are reviewed, including the use of advanced ultrasound techniques, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography for rhythm assessment. Models for parental counseling and a discussion of parental stress and depression assessments are reviewed. Available fetal therapies, including medical management for arrhythmias or heart failure and closed or open intervention for diseases affecting the cardiovascular system such as twin–twin transfusion syndrome, lung masses, and vascular tumors, are highlighted. Catheter-based intervention strategies to prevent the progression of disease in utero are also discussed. Recommendations for delivery planning strategies for fetuses with congenital heart disease including models based on classification of disease severity and delivery room treatment will be highlighted. Outcome assessment is reviewed to show the benefit of prenatal diagnosis and management as they affect outcome for babies with congenital heart disease. Conclusions— Fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound; however, new technologies, including 3- and 4-dimensional echocardiography, magnetic resonance imaging, and fetal electrocardiography and magnetocardiography, are available. Medical and interventional treatments for select diseases and strategies for delivery room care enable stabilization of high-risk fetuses and contribute to improved outcomes. This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.

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“…A recent review of case series from the past 2 decades reports survival beyond infancy ranging from 14% to 50%. 1 Although fetal echocardiography has become increasingly sophisticated in recent years, it remains difficult to reliably predict whether a patient will be born with significant compromise and whether the patient will subsequently have a poor outcome. Multiple studies have attempted to identify fetal predictors of postnatal respiratory distress and early mortality but have been limited by small study populations.…”

Section: Discussionmentioning

confidence: 99%

Clinical Utility of Fetal Magnetic Resonance Imaging in Tetralogy of Fallot With Absent Pulmonary Valve

et al. 2013

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A 28-year-old woman was referred to an outside center at 20 weeks' gestation for fetal echocardiogram, which revealed the diagnosis of tetralogy of Fallot with absent pulmonary valve. There were an anterior malalignment-type ventricular septal defect, overriding aorta, and severe pulmonary insufficiency in the setting of severely dysplastic, rudimentary pulmonary valve leaflets. The patient presented to our center at 31 weeks for follow-up evaluation and delivery management planning. Fetal echocardiogram confirmed the diagnosis. The main and branch pulmonary arteries were markedly dilated ( Figure 1A and 1B and Movies I and II in the online-only Data Supplement), and there was no ductus arteriosus. The cardiac silhouette was shifted leftward with a cardiac axis of 112°, deviating significantly from a normal fetal cardiac axis of 45° ( Figure 1C). The left lung appeared small and diffusely hyperechoic relative to the right lung, suggesting atelectasis or consolidation.At 35 weeks' gestation, a fetal magnetic resonance imaging (MRI) study was obtained to assess the lungs and airway to help predict whether respiratory compromise would be present at birth. The MRI demonstrated significant leftward shift of the mediastinum and posterior and leftward deviation of the heart with severely dilated pulmonary arteries. Aeration of the lungs was markedly asymmetrical (Figure 2A). The right lung, particularly the middle and lower lobes, was overinflated with increased T2 signal, suggesting trapped fetal lung fluid, consistent with congenital lobar emphysema. The left lung was small and underinflated, with a lung volume of 5 mL compared with a right lung volume of 93 mL ( Figure 2B). Only a small segment of the intrathoracic trachea could be identified, suggesting bronchial compression by the dilated pulmonary arteries ( Figure 2C).Given the severity of the lung pathology seen on fetal MRI, a plan of care was created that included scheduled cesarean section at 38 weeks with a specialty team comprising a neonatologist, a cardiologist, and a cardiac intensivist in the delivery room to initiate care at the time of cord clamping. The cardiac surgeon was available on standby in the cardiac intensive care unit with the extracorporeal membrane oxygenation pump primed and ready if needed. At birth, there was profound hypoxia, necessitating immediate intubation and ventilation with 100% oxygen. The baby was transferred directly from the delivery room to the cardiac intensive care unit, where chest x-ray confirmed the presence of severe right lung overexpansion and left lung collapse or hypoplasia (Figure 3).During the first 3 hours of life, a variety of specialized ventilatory strategies were attempted with the goal of minimizing air trapping and volutrauma. The right lung continued

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Prenatal diagnosis and outcome of absent pulmonary valve syndrome: contemporary single‐center experience and review of the literature

Abstract: Objective

Cited by 62 publications

References 26 publications

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples

Diagnosis and Treatment of Fetal Cardiac Disease

Clinical Utility of Fetal Magnetic Resonance Imaging in Tetralogy of Fallot With Absent Pulmonary Valve

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