Vol 93, No 1 (2022)
Research paper
Published online: 2021-04-21

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Perinatal outcomes of the antenatally diagnosed omphalocele cases: a single tertiary center experience

Cigdem Akcabay1, Fatma Islek1, Erol Arslan1, Masum Kayapinar1, Cansun Demir1, Cuneyt Evruke1, Selim Buyukkurt1, Mete Sucu1, Umran Kucukgoz Gulec1
Pubmed: 33914334
Ginekol Pol 2022;93(1):37-41.

Abstract

Objectives: To evaluate the perinatal outcomes of antenatally diagnosed omphalocele cases. Material and methods: This was a retrospective study conducted between July 2014 and February 2020 at the prenatal diagnosis center of a university clinic. Gestational week of diagnosis, associated anomalies, karyotype analysis results, complications during pregnancy, termination/delivery characteristics, and postnatal results were evaluated. Results: The analysis was performed on 58 patients. The median diagnosis time was 14.5 weeks of gestation. Thirty-three cases (57%) were defined in the first trimester. 33 (57%) of 58 patients had one or more concomitant anomalies, while 25 patients (43%) had isolated omphalocele. The most common associated anomaly was a cardiac anomaly which was observed in 17 fetuses (30% of all omphalocele cases). Karyotype analysis was performed in forty-five patients (41 in the prenatal period, 4 in the postnatal period). A normal karyotype was detected in 27 cases (60%). Trisomy 18 was the most common chromosomal anomaly (n = 15, 33.3%). Thirty of 58 patients (52%) requested termination of pregnancy (TOP) in the early pregnancy period. Thirteen of the cases died in-utero (22%). Fifteen pregnancies resulted in live births (26%), of those eight were lost in the first year of life (six of them had additional anomalies, while two of them had isolated omphalocele but the omphalocele pouch was containing the liver in those two babies). Conclusions: Most of the cases with an omphalocele can be diagnosed in the first trimester. Cardiac anomalies were the most common associated anomalies, while trisomy 18 is the most common chromosomal anomaly. Thus, earlier and effective counseling can be made about the prognosis of pregnancy.

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References

  1. Tassin M, Benachi A. Diagnosis of abdominal wall defects in the first trimester. Curr Opin Obstet Gynecol. 2014; 26(2): 104–109.
  2. Prefumo F, Izzi C. Fetal abdominal wall defects. Best Pract Res Clin Obstet Gynaecol. 2014; 28(3): 391–402.
  3. Syngelaki A, Chelemen T, Dagklis T, et al. Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeks. Prenat Diagn. 2011; 31(1): 90–102.
  4. Fleurke-Rozema H, van de Kamp K, Bakker M, et al. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program. Prenat Diagn. 2017; 37(4): 383–388.
  5. Syngelaki A, Guerra L, Ceccacci I, et al. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 2017; 50(1): 45–48.
  6. Khalil A, Arnaoutoglou C, Pacilli M, et al. Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation. Ultrasound Obstet Gynecol. 2012; 39(4): 401–406.
  7. Schindewolf E, Moldenhauer JS. Genetic counseling for fetal gastrointestinal anomalies. Curr Opin Obstet Gynecol. 2020; 32(2): 134–139.
  8. Christison-Lagay ER, Kelleher CM, Langer JC. Neonatal abdominal wall defects. Semin Fetal Neonatal Med. 2011; 16(3): 164–172.
  9. Gibbin C, Touch S, Broth RE, et al. Abdominal wall defects and congenital heart disease. Ultrasound Obstet Gynecol. 2003; 21(4): 334–337.
  10. Tassin M, Descriaud C, Elie C, et al. Omphalocele in the first trimester: prediction of perinatal outcome. Prenat Diagn. 2013; 33(5): 497–501.
  11. Rossi AC, Prefumo F. Accuracy of ultrasonography at 11-14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol. 2013; 122(6): 1160–1167.
  12. Barisic I, Clementi M, Häusler M, et al. Euroscan Study Group. Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol. 2001; 18(4): 309–316.
  13. Brantberg A, Blaas HGK, Haugen SE, et al. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol. 2005; 26(5): 527–537.
  14. Fratelli N, Papageorghiou AT, Bhide A, et al. Outcome of antenatally diagnosed abdominal wall defects. Ultrasound Obstet Gynecol. 2007; 30(3): 266–270.
  15. Fleurke-Rozema H, van de Kamp K, Bakker M, et al. Prevalence, timing of diagnosis and pregnancy outcome of abdominal wall defects after the introduction of a national prenatal screening program. Prenat Diagn. 2017; 37(4): 383–388.
  16. Syngelaki A, Guerra L, Ceccacci I, et al. Impact of holoprosencephaly, exomphalos, megacystis and increased nuchal translucency on first-trimester screening for chromosomal abnormalities. Ultrasound Obstet Gynecol. 2017; 50(1): 45–48.
  17. Iacovella C, Contro E, Ghi T, et al. The effect of the contents of exomphalos and nuchal translucency at 11-14 weeks on the likelihood of associated chromosomal abnormality. Prenat Diagn. 2012; 32(11): 1066–1070.
  18. Hidaka N, Murata M, Yumoto Y, et al. Characteristics and perinatal course of prenatally diagnosed fetal abdominal wall defects managed in a tertiary center in Japan. J Obstet Gynaecol Res. 2009; 35(1): 40–47.
  19. Aktoz F, Ozyuncu O, Tanacan A, et al. Gestational Outcomes of Pregnancies with Prenatally Detected Gastroschisis and Omphalocele. Fetal Pediatr Pathol. 2019; 38(4): 282–289.
  20. Axt R, Quijano F, Boos R, et al. 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. Eur J Obstet Gynecol Reprod Biol. 1999; 87(1): 47–54.