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Ugochi Akoma, MD Fellow, Maternal Fetal Medicine Esophagus Stomach Duodenum Small intestine Large bowel Esophagus and trachea originate from the median ventral diverticulum of the forgut, separated p by y esophago-tracheal p g septum p TEF: esophageal and trachea fail to separate during division of the endoderm Esophageal atresia: tracheal structure is composed of mostly of the endoderm Describe anomalies of the fetal GI system à Esophagus à Stomach à Small and large intestine Identify fetal GI anomalies associated with an increased risk of chromosomal abnormalities Explain fetal GI anomalies with associated amniotic fluid abnormalities Usually y collapsed p in fetal life Imaged only as two to four echogenic lines representing the anterior and posterior walls Nonlinear and all regions can not be imaged simultaneously under normal conditions Visualization of fetal swallowing has been described in late gestation (A) The laryngotracheal diverticulum forms as a ventral outpouching from the caudal part of the primitive pharynx. (B) Longitudinal tracheoesophageal folds begin to fuse toward the midline to eventually form the tracheoesophageal septum. (C) The tracheoesophageal septum has completely formed. (D) If the tracheoesophageal septum deviates posteriorly, esophageal atresia with a tracheoesophageal fistula develops *MID PORTION OF ESOPHAGUS DOES NOT DEVELOP* 1 Incidence is between 1:3,570 -4,500. Fetal gender: Males > Female 30-50%: congenital anomalies (35% cardiac; 30% musculoskeletal) 20-30%: premature VACTERL syndrome: 85% Most common Small Stomach 2% Proximal TEF No distal fistula Absent stomach Gasless abdomen Often has a long gap between the Esophageal ends Polyhydramnios Vertebral anomalies: Anal: imperforate anus, duodenal atresia Cardiac: VSD, PDA, TOF, coarction of aorta, ASD Trachea: TEF Esophageal: EA Renal: renal agenesis,ureteral abnormalities, hypospadias Limb: polydactyly, vertebral, radial), wrist/knee anomalies 6% Atresia alone, no fistula Absent stomach Gasless abdomen Usually has a long gap between the esophageal ends Polyhydramnios l% Proximal and distal fistulas ("double fistula") Small stomach Polyhydramnios 2 System affected Musculoskeletal Musculoskeletal 6% No atresia of p g the esophagus Fistula only Normal stomach and Amniotic fluid Gastrointestinal Cardiac Genitourinary Antenatal Diagnosis Polyhydramnios Small or absent stomach Distended upper esophageal pouch Abnormal swallowing Potential anomalies Hemivertebrae, radial dysplasia or amelia, polydactyly, syndactyly, rib malformations, scoliosis, lower limb defects Imperforate anus, duodenal atresia, malrotation, intestinal malformations, Meckel s alformations Meckel's diverticulum, annular pancreas Ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, atrial septal defect, single umbilical artery, rightright-sided aortic arch Renal agenesis or dysplasia, horseshoe kidney, polycystic kidney, ureteral and urethral malformations, hypospadias Is it visible? Is it too small? Is it in the proper location? Is it too large? Diagnostic suspicion is increased when abnormalities known to be associated with esophageal atresia are identified Can Confirm with MRI From www.ob-ultrasound.net 3 Defect in the developing diaphragm of the fetus leading to… 1 in 2000 to 5000 live births Hernation of abdominal contents occurs through Herniation of abdominal viscera into the thorax Significant pulmonary, cardiac, and gastrointestinal sequelae *Posterolateral defect (foramen of Bochdalek) in ~ 95% Retrosternal herniation (foramen of Morgagni) in ~ 5% Location Left-sided CDH are more common (80%) Right-sided CDH are less common (20%) Rarely bilateral % Associated with g genetic anomalies: 10-20% Smith—Lemli Opitz syndrome DiGeorge syndrome Chromosome 15,18,13 and 21 anomalies *Survival depends on degree of pulmonary hypoplasia* 4 60% antenatal detection rate Usually seen initially at prenatal anatomy ultrasound High-Resolution g ultrasound in the 1st/2nd trimester can visualize the diaphragm *Can be missed even on early 2nd trimester U/S Polyhydramnios Intrathoracic stomach or liver Observe for other anomalies Fetal echo is recommended à Incidence of associated cardiac anomalies up to 25% If ultrasound is positive, consider MRI Recently fetal MRI and fetal echocardiography, helpful to determine degree of pulmonary hypoplasia. Amniocentesis is recommended to provide information regarding possible chromosomal abnormalities Stomach “Double bubble” sign Duodenum 5 Not usually diagnosed prior to 24 weeks of gestation “Double bubble” sign common Trisomy risomy 21 present in 30% Congenital heart disease present in 30% Other associated GI anomalies are common No fetal sex differentiation Association with anomalies of the VACTERL spectrum Incidence--11 in 5,000 -10,000 live births Incidence-75% of stenoses and 40% of atresias are found in Duodenum Multiple atresias in 15% of cases 50% pts are LBW and premature Polyhydramnios in 75% Caused by failure of recanalization of the bowel lumen Doesn’t change from solid Æ tube structure 6 Jejunal is most common 1 per 2,000 live births Atresia due to inin-utero occlusion of all or part off the h blood bl d supply l to the h b bowell Classification-Classification --Types Types II--IV *Duodenal= Failure of canalization *Distal bowel = Ischemic process Defect in ventral abdominal wall Defect covered by peritoneum Umbilical cord inserts into this membrane High incidence of chromosomal anomalies Omphalocele Higher if liver NOT in sac Higher with smaller defect Gastroschisis 7 Full-thickness defect in abdominal wall Usually to right of umbilical ring Not associated with increased risk of chromosomal anomalies Not associated with extra-gastrointestinal extra gastrointestinal abnormalities Other GI anomalies occur in 20-40% Volvulus Malrotation Infarction IUGR occurs in up to 75% From www.obgyn.net 8 Bowel echogenicity comparable to bone in 2nd trimester Increased incidence of Down syndrome Rarely an isolated finding in Down syndrome Likelihood ratio = 12.7-21.9 ??What else can this be?? Normal Cystic Fibrosis Viral infection Swallowed blood The double bubble sign represents duodenal atresia and an increased risk of chromosomal anomalies Omphalocele, O h l l but b t nott gastroschisis, t hi i represents t an increased risk of chromosomal anomalies The End Echogenic bowel in the 2nd trimester is a genetic marker for chromosomal anomalies 9