Prenatal Diagnosis of Fetal Jejunal Atresia: A Case Report

Galani, A.; Zikopoulos, Athanasios; Mastora, Eirini; Zikopoulos, Konstantinos; Makrydimas, George

doi:10.7759/cureus.18947

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Most previous reports focused on cytogenetic aberrations, with frequencies ranging from 5.4 to 20% ( 1 , 2 , 5 , 15 , 16 , 19 , 20 ). The association between GITO and aneuploidies, such as T21 and T18, has been well-established.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Shen

et al. 2022

Front. Pediatr.

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Fetal gastrointestinal tract obstruction (GITO) is the most frequently encountered gastrointestinal defect in the prenatal period. This study aimed to investigate the genetic disorders and pregnancy outcomes of fetal GITO. We reviewed data from 70 pregnancies that were referred for invasive prenatal testing because of fetal GITO. According to the level of obstruction, they were classified into esophageal atresia/stenosis, duodenal atresia/stenosis, jejunal or ileal atresia/stenosis, or anal atresia. Traditional karyotyping was performed on all the 70 pregnancies, and chromosomal microarray analysis (CMA) was performed on 32 of them in parallel. Traditional karyotyping revealed twelve (17.1%) chromosomal abnormalities, including 11 cases of trisomy 21 (Down syndrome), and one case of a supernumerary marker chromosome related to Cat eye syndrome. According to the absence or presence of other ultrasound anomalies, they were categorized into isolated GITO (n = 36) and non-isolated GITO (n = 34). The rate of chromosomal abnormalities in the non-isolated GITO pregnancies was significantly higher than that in the isolated GITO pregnancies (29.4 vs. 5.5%, p < 0.05); the survival rate in the isolated group was significantly higher than that in the non-isolated group (67.6 vs. 34.4%, p < 0.05). Among the 32 cases where CMA was performed, an additional one (3.1%) copy number variant with clinical significance was noted in a fetus with normal karyotype. The microduplication on 7q12 was considered to be the genetic etiology of duodenal stenosis, although it was inherited from a phenotypically normal mother. Our study supports the strong association between Down syndrome and fetal GITO, especially duodenal stenosis. Our findings suggested that the risk of chromosomal abnormalities was increased when GITO was accompanied by other ultrasound anomalies; thus, chromosomal abnormalities and fetal anatomy should be carefully evaluated for pregnancy management of fetal GITO.

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Section: Discussionmentioning

confidence: 99%

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Shen

et al. 2022

Front. Pediatr.

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“…Imaging is crucial in the diagnosis of jejunal atresia. A case report by Galani et al highlighted that prenatal diagnosis relies on identification of dilated loops of fetal bowel and the presence of polyhydramnios on antenatal ultrasonography 9. However, the current case highlights that jejunal atresia should also be considered even in the absence of polyhydramnios if a cystic lesion or dilated loops of bowel are seen in the fetal abdomen on antenatal ultrasonography.…”

Section: Discussionmentioning

confidence: 79%

Type IIIb jejunal atresia treated surgically with two end-to-end anastomoses

Harper,

Das,

Williamson

et al. 2023

BMJ Case Rep

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A term newborn presented after birth with abdominal distension and vomiting in a developing country in Asia. Ultrasonography suggested intestinal obstruction and abdominal X-ray showed a ‘double-bubble’ sign suggestive of intestinal atresia. The newborn was diagnosed with early-onset neonatal sepsis secondary to intestinal obstruction and transferred to the neonatal intensive care unit. Surgery was performed and type IIIb jejunal atresia was found. Type IIIa/b jejunal atresia is associated with high incidence of poor outcome in lower socioeconomic countries. The affected intestinal segment and a distal serosal tear were resected and two end-to-end anastomoses formed. Oral feeding commenced on day 13 postoperatively. The patient was discharged on day 20 with adequate nutritional status. At follow-up, the patient continued to thrive. An operation involving resection of two different segments of bowel repaired with two end-to-end anastomoses in a neonate had a successful outcome for the patient.

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“…Ultrasound images of fetal bowel distention are a sign of mechanical or functional bowel obstruction [5] and the prevalence is associated with the underlying disease, i.e., bowel atresia or stricture, volvulus, meconium ileus, pancolitis nerves nodular hyperplasia and meconium embolism syndrome. It is a demanding task to identify the difference between dilated small bowel loops and colon using ultrasound imaging, as well as the number and location of obstructions [6,7] . Thus, dilated fetal bowel may be associated with different postpartum outcomes, resulting in problematic prenatal management and parental counseling.…”

mentioning

confidence: 99%

Correlation between Prenatal Ultrasound Diagnosis of Dilated Fetal Bowel and Fetal Prognosis

Su,

Li,

Sun

et al. 2023

IJPS

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To investigate the correlation between dilated fetal bowel detected by prenatal ultrasonography and fetal prognosis. In this retrospective study, a total of 157 pregnant women who underwent Doppler ultrasound obstetric examination in our hospital from August 2020 to August 2021 were included. All pregnant women were divided into the normal group and the dilation group according to the results of ultrasound diagnosis. The normal group was the pregnant women with normal fetal bowel diameter diagnosed by prenatal ultrasound. The dilation group was the pregnant women diagnosed with fetal bowel dilatation by prenatal ultrasound. Pregnant women in the dilation group were followed up until 1 mo after the delivery of the fetus. The dilation sites of all fetuses in the dilation group, pregnancy outcomes and neonatal Apgar scores were collected, and the correlation between fetal bowel dilatation and neonatal Apgar scores was analyzed. There was no significant difference in the above indices (p>0.05). The average inner diameter of the fetuses with duodenal canal dilatation, jejunal and ileal canal dilatation, and colonic canal dilation were negatively correlated with the neonatal Apgar score (r=-0.751, r=-0.723, r=-0.682, p<0.05). The incidence of premature birth, induced labor and polyhydramnios in fetuses with duodenal canal dilatation was significantly higher than that in fetuses with jejunal and colonic canal dilatation (p<0.05). Prenatal ultrasound diagnosis of dilated fetal bowel is correlated with fetal prognosis and has a predictive potential. Fetal duodenal dilatation or other abnormalities have a worse prognosis than small bowel or colonic dilatation alone, which is conducive to identify fetal status and implementation of preventive strategies.

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Prenatal Diagnosis of Fetal Jejunal Atresia: A Case Report

Cited by 4 publications

References 9 publications

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Chromosomal Abnormalities and Pregnancy Outcomes for Fetuses With Gastrointestinal Tract Obstructions

Type IIIb jejunal atresia treated surgically with two end-to-end anastomoses

Correlation between Prenatal Ultrasound Diagnosis of Dilated Fetal Bowel and Fetal Prognosis

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