Small Stomach Bubble Research Articles

Analysis of clinical phenotype and pathogenic variant of a fetus with Cornelia de Lange syndrome type II

To explore the prenatal ultrasonographic features and genetic basis for an abortus suspected for type II Cornelia de Lange syndrome (CdLS2). A fetus diagnosed with CdLS2 at the Shengjing Hospital Affiliated to China Medical University on September 3, 2019 was selected as the study subject. Clinical data of the fetus and family history was collected. Following induced labor, whole exome sequencing was carried out on the abortus. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Prenatal ultrasonography (33 weeks of pregnancy) has revealed multiple anomalies in the fetus, which included slightly widened cavity of septum pellucidum, blurred corpus callosum, slightly reduced frontal lobe volume, thin cortex, fusion of lateral ventricles, polyhydramnios, small stomach bubble, and digestive tract atresia. Whole exome sequencing has revealed a heterozygous c.2076delA (p.Lys692Asnfs*27) frameshifting variant in the SMC1A gene, which was found in neither parent and was rated as pathogenic based on the guidelines of American College of Medical Genetics and Genomics (ACMG). The CdLS2 in this fetus may be attributed to the c.2076delA variant of the SMC1A gene. Above finding has provided a basis for genetic counseling and assessment of reproductive risk for this family.

MRI and ultrasound scan in prenatal diagnosis of congenital esophageal atresia

Objective To investigate the prenatal imaging features of fetal congenital esophageal atresia and to further evaluate the value of MRI and ultrasound scan in the same condition. Methods This study recruited 12 singleton gravidas whose fetuses were initially suspected with congenital esophageal atresia by prenatal ultrasound scan and then confirmed by surgery and/or upper gastrointestinal angiography after birth at Guangzhou Women and Children's Medical Center from May 2011 to May 2017. Imaging features of prenatal MRI and ultrasonography of the 12 fetuses were retrospectively analyzed. Differences in imaging findings of these two methods were analyzed by Chi-square test. Results All 12 women received prenatal ultrasound examination and eight of them underwent MRI scan when fetal congenital esophageal atresia was suggested by ultrasound. Both ultrasound and MRI were capable of identifing polyhydramnios and absent or small stomach bubble (12/12 and 8/8, respectively). However, MRI was superior to ultrasound in detecting pouch /oral filling sign or poor filling of small intestine (7/8 vs 3/12 and 8/8 vs 0/12, χ2 were 7.500 and 20.000, both P 0.05). The total detection rates after 32 weeks of gestation of Gross Ⅰ and GrossⅢ cases were both 3/6. Conclusions Prenatal MRI is a vital supplement to ultrasound due to its high display rate of characterized features of congenital esophageal atresia. Thus, the combined use of ultrasound and MRI is of great importance for prenatal diagnosis of this fetal abnormality. Key words: Esophageal atresia; Ultrasonography, prenatal; Magnetic resonance imaging

Antenatal diagnosis of oesophageal atresia with tracheoesophageal fistula with upper neck pouch sign-A radiological study

Oesophageal atresia is rare antenatal diagnosis due to absence of clinical and sonographic findings. On antenatal USG, the finding of an absent or small stomach bubble with polyhydramnios is considered suspicious of oesophageal atresia. However, these findings is not confirmative. The upper neck pouch sign is another specific sign that helps in the antenatal diagnosis of oesophageal atresia.

Ultrasound and MRI Prenatal Diagnosis of Esophageal Atresia: Effect on Management

Ultrasound and MRI Prenatal Diagnosis of Esophageal Atresia: Effect on Management

Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo‐esophageal fistula

Ultrasonographic features suggestive of esophageal atresia with or without tracheo-esophageal fistula (EA/TEF) are only in a small minority of fetuses with EA/TEF (<10%) identifiable on prenatal scans.The prenatal diagnosis of EA/TEF relies in principle, on two nonspecific signs: polyhydramnios and absent or small stomach bubble. Polyhydramnios is associated with a wide range of fetal abnormalities, but most commonly it pursues a benign course. Similarly the sonographic absence of a stomach bubble may point to a variety of fetal anomalies.The combination of polyhydramnios and absent stomach bubble in two small series offers a modest positive predictive value of 44 and 56% respectively. Prenatal scanning for EA/TEF identifies a larger proportion of fetuses with Edwards syndrome; there is also a higher proportion of isolated EA in comparison to postnatal studies.Current ultrasound technology does not allow for a definite diagnosis of EA/TEF and therefore, counseling of parents should be guarded.Postnatal diagnosis of EA is confirmed by the failure to pass a firm nasogastric tube into the stomach; on chest X-ray, the tube is seen curling in the upper esophageal pouch. Corrective surgery for EA/TEF is well established and survival rates of over 90% can be expected.