The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia (original) (raw)
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Journal of Pediatric Surgery, 2014
The purpose of this study was to describe prenatal imaging characteristics and outcomes of fetuses with suspected esophageal atresia (EA) in order to improve prenatal diagnosis, counseling, and management. Methods: The medical records of all patients referred to our multidisciplinary fetal center for suspected EA from January 2003 to April 2013 were reviewed retrospectively. Results: Thirty-three patients were referred with a prenatal diagnosis of possible EA. Following fetal center evaluation with MRI, EA was deemed unlikely in 6 (18%) fetuses. Of 27 fetuses in whom EA could not be excluded, EA was confirmed postnatally in 15 (56%), excluded in 7 (26%), and unconfirmed in 5 (3 fetal losses; 2 lost to follow-up). Imaging characteristics on fetal MRI associated with the highest positive predictive values (PPV) were an esophageal pouch (100%) and a small stomach (75%). The finding of polyhydramnios had high sensitivity (93%) but low specificity (31%) and PPV (61%) for a diagnosis of EA. Conclusion: Prenatal imaging and fetal center evaluation correctly identify the presence or absence of esophageal atresia in 78% of patients referred on suspicion of this condition. The presence of an esophageal pouch on fetal MRI has significant predictive value for EA. These data may assist with evidence-based prenatal family counseling.
Prenatal diagnosis of esophageal atresia using sonography and magnetic resonance imaging
Journal of Pediatric Surgery, 2001
The diagnosis of esophageal atresia may be suspected on prenatal ultrasound scan in fetuses with a small or absent stomach or unexplained polyhydramnios. However, these findings are thought to have a low positive predictive value and clinical decisions affecting timing or site of delivery may be made erroneously. The authors evaluated the accuracy of fetal sonography followed by magnetic resonance imaging (MRI) for the diagnosis of this lesion.
Prenatal detection of esophageal atresia: a systematic review and meta-analysis
Acta Obstetricia et Gynecologica Scandinavica
The primary aim of this systematic review was to quantify the diagnostic performance of ultrasound, magnetic resonance imaging and amniotic fluid analysis in detecting esophageal atresia prenatally. The secondary aim was to explore the accuracy of individual imaging signs in identifying this anomaly.
Prenatal diagnosis of esophageal atresia with the pouch sign
Ultrasound in Obstetrics and Gynecology, 2003
A 19-year-old primipara was referred to our center for a routine scan at 33 + 4 weeks' gestation. A visible but small stomach bubble (18 mm) was detected in the fetal abdomen, associated with a dilation of the esophagus with a tapering distal part. Direct visualization of filling and emptying of the proximal esophagus suggested the presence of obstruction. A cystic pouch in the region of the esophagus was observed to be full and empty in accordance with fetal swallowing. No other fetal anomalies were detected. Fetal biometric measurements were on the 10th percentile and polyhydramnios was detected. Esophageal atresia type I was suspected. Fetal karyotyping was declined by the parents, no therapy was given and the pregnancy continued until week 37 when a female baby was delivered following spontaneous labor. Esophageal atresia type I was radiographically confirmed.
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia
American Journal of Medical Genetics Part A, 2020
Esophageal atresia (EA) is a congenital anomaly occurring in 2.3 per 10,000 live births. Due to advances in prenatal imaging, EA is more readily diagnosed, but data on the associated genetic diagnoses, other anomalies, and postnatal outcome for fetuses diagnosed prenatally with EA are scarce. We collected data from two academic medical centers (n = 61). Our data included fetuses with suspected EA on prenatal imaging that was confirmed postnatally and had at least one genetic test. In our cohort of 61 cases, 29 (49%) were born prematurely and 19% of those born alive died in the first 9 years of life. The most commonly associated birth defects were cardiac anomalies (67%) and spine anomalies (50%). A diagnosis was made in 61% of the cases; the most common diagnoses were vertebral defects, anal atresia, cardiac anomalies, tracheoesophageal fistula with esophageal atresia, radial or renal dysplasia, and limb anomalies association (43%, although 12% met only 2 of the criteria), trisomy 21 (5%), and CHARGE syndrome (5%). Our findings suggest that most fetuses with prenatally diagnosed EA have one or more additional major anomaly that warrants a more comprehensive clinical genetics evaluation. Fetuses diagnosed prenatally appear to represent a cohort with a worse outcome.
Esophageal obstruction—prenatal detection rate and outcome
Ultrasound in Obstetrics and Gynecology, 2007
Objective Prenatal diagnosis of esophageal obstruction is believed to improve the outcome for the affected newborn. However, the prenatal detection rate is only 10-40%, the diagnosis is usually not made before the third trimester and the false-positive rate has been high. This study investigated the prenatal detection rate and time of prenatal diagnosis at our center and its influence on outcome. In addition, incidence, detection rate and accuracy of the diagnosis in a large non-selected population were determined.
Etiological heterogeneity and clinical variability in newborns with esophageal atresia
Italian journal of pediatrics, 2018
The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). We recruited 67 infants with EA (with or without tracheoesophageal fistula), distributed in groups as follows: A 31.3%, B 16.4%, C 26.8% and D 25.3%. Type of atresia was not statistically different among different groups. Mortality was higher in groups C and D, especially if associated with congenital heart defects. In survivors, we found different auxological evolution and prognostic profiles consi...