Revista Romana de PEDIATRIE | Volumul LXII, Nr. 2, An 2013
ISSN 1454-0398  |  e-ISSN 2069-6175
ISSN-L 1454-0398
DOI: 10.37897/RJP

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Clinical aspects and course in syndromic omphalocele

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Objectives. To analyze the risk factors, clinical aspects and malformations associated with omphalocele.

Material and Methods. The study analyzed 105 cases of omphalocele treated in the Surgery Unit of „Sfânta Maria” Emergency Children Hospital over a period of 23 years according to a complex protocol.

Results. The mean age of mothers was 27.0 years, 34.2% of them being primiparas primigravidas and 50.4% multiparas; 22% of mothers were unmarried; the rate of parental alcohol and tobacco consumption was 32%. The educational level of mothers was relatively low, 62% of them living in rural areas. Delivery was by cesarean section in 27.6% of cases, the mean gestational age was 37.1 weeks, mean birth weight 2717.2 grams, M/F ratio 1.38, 26% of pregnancies were unattended, and only 13.3% were diagnosed prenatally. Chromosomal anomalies were confirmed in 27.6% of patients and of the total 105 patients with omphalocele 71.4% had one or more associated congenital anomalies. Overall survival rate was 45.7% and of the 29 patients with chromosomal abnormalities only 5 (17.2%) survived.

Conclusions. The suspicion of a syndromic omphalocele requires the pregnant woman to be closely followed up and further assessed (multiple scans, amniocentesis for fetal karyotyping), an evaluation of the risk factors and informing the parents who may choose to undergo a therapeutic abortion.

Cuvinte cheie: omfalocel, sindrom malformativ, anomalii genetice

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