Omphalocele
| Classification according to ICD-10 | |
|---|---|
| Q79.2 | Omphalocele |
| ICD-10 online (WHO version 2019) | |
The term omphalocele (from Greek ὀμφαλóς the umbilicus and κήλη the rupture, also written Omphalocele . Synonym: Exomphalos ) is the medical term for an umbilical cord break (umbilical cord hernia ) due to a physiological displacement of some abdominal organs outwards (physiological umbilical hernia) through the abdominal wall of the unborn child. The fault is the lack of or insufficient regression of the physiological umbilical hernia. The intestinal loops remain in the extraembryonic coelom and cause the umbilical cord to expand. The relocation should normally happen towards the end of the 3rd month of development. The defect can be detected using ultrasound before birth . Therapy consists of surgical treatment. The umbilical cord hernia occurs in all mammals and often occurs in cats , dogs, and piglets .
Pathogenesis
A human omphalocele develops between days 32 and 70 of pregnancy. The regression of the physiological umbilical hernia (which occurs in healthy people) in the embryonic period is missing , so that a substance defect results in the midline, which makes the break possible.
Epidemiology
The incidence (frequency of disease) of omphalocele is 1: 4000 - 1: 5000 births. Omphalocele is not hereditary and there is usually no higher risk for other children from the same mother. Ultimately, the cause ( etiology ) of the omphalocele is currently still unclear. About four out of ten children with an omphalocele have other malformations such as B. in the area of the heart , kidneys , liver and intestines . Omphaloceles are found above average in children with Cantrell syndrome , Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18), Fraser syndrome , trisomy 16 and triploidy . They also occur in Shprintzen syndrome type I and Beckwith-Wiedemann syndrome .
Diagnosis
Omphalocele can often be diagnosed prenatally on ultrasound . After the birth, the malformation is obvious. Bringing the birth forward (smaller infants) or a caesarean section (primary Caesarean section ) should be considered to avoid or reduce the risk of rupture; With regard to neonatal mortality (mortality) and morbidity , no significant differences from vaginal delivery could be detected. The omphalocele, which is present in isolation, is not an indication for termination of pregnancy, even if this is required.
morphology
The size of the hernial sac is variable (table tennis ball to handball size). If the envelope is intact, it contains the amnion , peritoneum , umbilical vessels, Wharton's jelly and variable parts of the intraperitoneal organs ( intestinal loops , liver , stomach ).
therapy
The birth should take place in a clinic with attached pediatric intensive care medicine and pediatric surgery . Today, in many cases, the cesarean section is chosen as the mode of delivery . The hernial sac is then covered in a sterile manner. The child receives a gastric tube and is transferred to the children's intensive care unit for stabilization and further diagnostics.
If the umbilical cord rupture is ruptured (i.e. the intestines are exposed), rapid surgery is required. Otherwise, depending on the size of the hernial sac and the accompanying circumstances, a decision is made as to whether a primary operation or "hanging up" the hernial sac should be performed first. During the operation, if possible, the intestines are placed in the abdomen and the abdomen closed. If the abdominal cavity is too small, it is closed with foreign material, which is then removed in one or more operations.
Course and prognosis
The course depends on the size of the omphalocele and any accompanying malformations. In the infant, the structure of the diet is sometimes difficult, so that the food has to be fed through a tube over a certain period of time. U. still in toddler age. With larger omphaloceles, several operations are often necessary until the abdominal wall is completely closed.
The prognosis for omphalocele has improved significantly due to the further development of sonographic examinations for early diagnosis, as well as improved options for surgical care and parenteral nutrition . A Dutch study from 2009 summarizes:
"After a high level of medical intervention in early life, minor and giant OC patients report similar long-term results except for the cosmetic problems mentioned more serious in giant OC. However, this did not influence the quality of life in either group and is comparable to that of healthy young adults. With the latter positive prospect in mind, expectant parents with fetal diagnosis of OC and parents of newborns with OC should be informed that the high burden of (surgical) interventions their child will need to undergo will likely yield a good health status in the long- term, especially when there are no associated anomalies. "
“After intensive medical care in the early stage of life, similar long-term results are available for patients with minor as well as major findings for omphalocele, apart from cosmetic aspects, which are more important for large omphaloceles. However, this did not affect the quality of life in either of the two groups, which can be compared with that of healthy born young adults. Taking into account this positive outlook, parents-to-be with an omphalocele diagnosed prenatally in the child, as well as parents of newborns with this, should be informed that the high level of stress of the (surgical) therapy to which the child must necessarily undergo is very likely will result in good health in the long run, especially if there are no other abnormalities. "
According to other studies, the quality of life of patients with omphalocele does not differ significantly from the population average. There is no shortened life expectancy or a higher prevalence of diseases, and no differences whatsoever with regard to educational qualifications were found. Pregnancy is possible for women affected.
In the US states of Nebraska and Arkansas, January 31st has been the recognized "Omphalocele Awareness Day" since 2015.
See also
swell
- ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ Roland Axt u. a .: Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg / Saar . In: European Journal of Obstetrics & Gynecology and Reproductive Biology 87 (1999). Pp. 47-54
- ↑ Sabine Punzmann: omphalocele and gastroschisis. Analysis of the Regensburg patient population 1983-2007 taking into account the cosmetic and functional long-term results . Dissertation, University of Regensburg, 2011. p. 9 ( online )
- ↑ Floortje C. Van Eijck, YL Hoogeveen, C. van Weel, P. Rieu, R. Wijnen: Minor and giant omphalocele: long-term outcomes and quality of life . In Journal of Pediatric Surgery, Vol. 44, No. 7 (July), 2009. pp. 1355–1359 ( online )
- ^ A. Koivusalo, H. Lindahl, RJ Rintala: Morbidity and quality of life in adult patients with a congenital abdominal wall defect: a questionnaire survey . In: Journal of Pediatric Surgery, Vol. 37, No. 11 (November), 2002. pp. 1594-1601
- ↑ German Society for Pediatric Surgery: Long version of the guideline "Abdominal Wall Defects (Laparoschisis [LS] / Omphalocele [OZ])" ( online ( Memento of the original from 23 September 2015 in the Internet Archive ) Info: The archive link has been inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this note. )
- ↑ Legislative Resolution 21 ( online )
- ^ House Resolution 1006, State of Arkansas ( online )
literature
- S1 guideline for abdominal wall defects (laparoschisis [LS] / omphalocele [OZ]) of the German Society for Pediatric Surgery (DGKCH). In: AWMF online (as of 2012)
- Van Eijck, Floortje C .: Strategies and trends in the treatment of (giant) omphalocele . Erasmus University Rotterdam, 2011 ( online )
