Diagnóstico prenatal de atresia de yeyuno con ecografía 3D con reconstrucción en superficie (HDlive): reporte de caso y revisión de la literatura / Antenatal diagnosis of jejunal atresia by 3D HDlive ultrasound: Case report and literature review

Resumen Objetivos: Reportar el caso de una paciente con diagnóstico prenatal de atresia de yeyuno y hacer una revisión de la literatura en torno al resultado y al diagnóstico de esta entidad, implementando el uso de métodos no convencionales: ecografía tridimensional (3D) o resonancia magnética fetal (RM). Materiales y métodos: Se reporta el caso de una gestante de 18 años, remitida a la Unidad de Medicina Materno-Fetal, Genética y Reproducción del Hospital Virgen del Rocío de Sevilla (España), por feto con imagen quística abdominal, peristáltica, compatible con atresia de yeyuno, la cual se confirmó con ecografía 3D modo HDlive. Se realizó una búsqueda bibliográfica en Medline/PubMed, LILACS y Google Scholar, restringiendo por tipo de idioma (inglés y español) y fecha de publicación (enero de 1995 a junio de 2020). Se incluyeron estudios primarios de reportes y series de caso, que abordaran el resultado y el diagnóstico prenatal de esta patología. Resultados: La búsqueda identificó 1.033 títulos, de los cuales cuatro estudios cumplieron con los criterios de inclusión, estos fueron reporte o series de casos. En total se reportaron doce fetos con diagnóstico prenatal de atresia de yeyuno detectada con métodos no convencionales. Una gestación finalizó con óbito a la semana 26 de gestación y en todos los demás casos, el diagnóstico se ratificó durante el periodo neonatal, requiriendo la resección del segmento comprometido. Dos neonatos desarrollaron síndrome de intestino corto como consecuencia de una resección intestinal amplia. El resto experimentó una evolución posoperatoria favorable. Conclusión: La literatura disponible en torno al diagnóstico prenatal de atresia de yeyuno utilizando métodos no convencionales es escasa y se limita a reporte o series de casos. La literatura revisada sugiere que, en presencia de dilatación intestinal, la ecografía 3D y la resonancia magnética fetal podrían tener cierta utilidad a la hora de caracterizar la porción atrésica y establecer el diagnóstico diferencial. Se requieren más estudios que evalúen la utilidad diagnóstica de estas dos alternativas.

Abstract Objectives: To report the case of a patient with a prenatal diagnosis of jejunal atresia and to review the literature regarding the results and prenatal diagnosis of this entity, implementing the use of non-conventional methods (3D ultrasound or magnetic resonance imaging). Material and methods: Report of a case of an 18-year-old pregnant woman referred to the Maternal-Fetal Medicine, Genetics and Reproduction Unit of the Virgen del Rocío Hospital in Seville due to fetus with abdominal peristaltic cystic image, consistent with jejunal atresia, confirmed with 3D HDLive mode ultrasound. A bibliographic search was carried out in Medline/PubMed, Google Scholar and LILACS, restricting by type of language (English and Spanish) and date of publication (January 1995 to June 2020). Primary studies of reports and case series relating to the outcome and prenatal diagnosis of this pathology were included. Results: The search identified 1,033 titles, of which four studies met the inclusion criteria, these being reports or case series. A total of twelve fetuses with a prenatal diagnosis of jejunal atresia detected with unconventional methods were reported. In all cases, the prenatal diagnosis was confirmed during the neonatal period, which required resection of the compromised segment; one of them died and two neonates developed short bowel syndrome because of a wide bowel resection. The postoperative course in the remaining cases was favorable. Conclusion: The available literature on the prenatal diagnosis of jejunal atresia using non-conventional methods is scarce and is limited to case reports or case series. The literature reviewed suggests that, in the presence of intestinal dilation, 3D ultrasound and magnetic resonance imaging could be of some use in characterizing the atretic portion and establishing the differential diagnosis. More studies are required to evaluate the diagnostic utility of these two alternatives.

Type IV jejunal atresia in a newborn: a rare birth defect presenting with bilious vomiting

Background: Type IV jejunal atresia is a rare birth defect, which occurs due to late intrauterine vascular accidents that results in complete obstruction of intestinal lumen. There is no genetic predilection. It occurs most commonly in proximal jejunum. Clinical presentation includes bilious vomiting, abdominal distension, feeding difficulties, failure to pass stools and/or absence of bowel movements after birth. Here author report a case of premature newborn, who was admitted in NICU at birth in view of prematurity. As the baby had bilious vomiting and bilious NG aspirate on day 3 of life, possibility of intestinal obstruction was kept. It was diagnosed as a case of jejunal atresia by abdominal radiograph displaying dilated stomach, duodenum and proximal jejunum with gasless abdomen. Further jejunal atresia confirmed by the upper GI study exhibiting the level of obstruction. Surgical resection of the atretic segment and primary anastomosis was done. This case emphasizes the need of rapid identification of jejunal atresia and its adequate management to prevent morbidity and mortality associated with fore shortened intestine.

Jejunal Atresia in a Neonate due to Intrauterine Intussusception.

We report a female neonate, who presented with abdominal distension and failure to pass meconium. Antenatal ultrasound at 32 weeks gestation and postnatal ultrasound on day1 suggested intestinal obstruction. During laparatomy, atresia of distal jejunum was found. The lumen of the distal segment contained an intussusceptum. Resection of the blind ends was done and end-to-end anastomosis was performed.

The Experience of Operative Management in Jejunoileal Atresia

PURPOSE: Intestinal atresia is a common cause of neonatal intestinal obstruction. Recently, the survival rate has been increasing from development of prenatal diagnosis, total parenteral nutrition (TPN) and neonatal intensive care. We evaluated the complication rate and cause of mortality after operative management for jejunoileal atresia. METHODS: We reviewed 62 patients (36 males, 26 females) with jejuno-ileal atresia who underwent operation from 1998 to 2007. RESULTS: There were 37 patients with jejunal atresia and 25 with ileal atresia. The average gestational age was 256+/-16.6 days and birth weight was 2,824+/-620 g. Prenatal diagnosis was performed in 45 patients (72.6%) around gestational age 27 weeks. Within 2nd day after birth, 44 patients (71%) underwent operation. Half of the jejunoileal atresia was type IIIa and type I was in 8, type II was in 3, type IIIb was in 12, and type IV was in 8. The operative treatment was resection & anastomosis in 59 patients and enterotomy & web excision in 3. They started feeding at 12.4+/-11.5 days after operation on average. The average duration of TPN was 26.7+/-23.5 days, and the incidence of cholestasis was 30.6%. Hospital days averaged 36.8+/-26 days. Early complication occurred in 14 patients (intestinal obstruction in 5, sepsis in 4, wound problem in 3, anastomosis leakage in 1, and intraabdominal abscess in 1). Late complication occurred in 7 patients (anastomosis stricture in 4 and intestinal obstruction in 3). There was only one case of mortality due to short bowel syndrome after re-operation for adhesive ileus. CONCLUSION: The operation for intestinal atresia was successful and aggressive management contributed to a low mortality rate.

Multiple Congenital Anomalies in a Neonate of a Diabetic Mother

Maternal diabetes is known to have teratogenic effects which increase the risk for congenital anomalies, such as caudal dysplasia, cardiac defects, hydronephrosis, and small left colon syndrome. Infants of diabetic mothers have a 10-fold higher frequency of anomalies in the central nervous system and a 5-fold higher frequency of congenital heart defects. However, jejunal atresia combined with multiple anomalies of the face, ears, and hands has rarely been reported. Herein we report a neonate born to a diabetic mother, who had hemifacial microsomia, displacement of the lacrimal ducts, polydactyly of the right hand, microtia of the right ear and proximal jejunal atresia presenting as bile regurgitation on the 1st day of life.

A Case of Ring Chromosome 13 Syndrome with Jejunal Atresia and Hearing Loss

A ring chromosome 13 was found in newborn female with multiple congenital anomalies suggestive of 13q-syndrome. She presented with intrauterine growth retardation, agenesis of thumbs, craniofacial anomalies, congenital heart diseases, CNS, gastrointestinal anomalies which are imperforate anus and jejunal atresia and sensorineural hearing loss. To our knowledge, there have been several reports on 13q-syndrome with congenital megacolon or imperforate anus at home and abroad. However, the case presenting with jejunal atresia and hearing loss has not been described previously in the country. We report this case with a brief review of the correlation between clinical features and the observed chromosome abberation.