Results of complex prenatal examination of fetuses with omphalocele

Authors

  • I.Y. Gordienko SI «Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine», Ukraine
  • G.O. Grebinichenko SI «Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine», Ukraine
  • O.M. Tarapurova SI «Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine», Ukraine
  • A.V. Velychko SI «Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine», Ukraine
  • T.V. Nikitchina SI «Institute of Pediatrics, Obstetrics and Gynecology named of academician O.M. Lukyanova NAMS of Ukraine», Ukraine

DOI:

https://doi.org/10.15574/PP.2020.82.56

Keywords:

omphalocele, congenital malformations, ectopia cordis, chromosomal pathology

Abstract

Purpose — to analyze results of complex prenatal examination of high risk pregnant women with omphalocele in the fetus.

Materials and methods. A retrospective analysis of data on ultrasound and karyotyping reports of 150 fetuses as patients with omphalocele, which were examined in the Department of Fetal Medicine in 2007–2018.

Results. Isolated omphalocele was diagnosed in 36% of cases (n=54), in association with other pathology — in 62.7% (n=94); in 2 cases (1.3%) antenatal fetal death was determined during the examination, which made invasive procedures impossible. Fetal karyotype was obtained in 116 cases, of which chromosomal abnormalities were diagnosed in 32 fetuses (27.6%); the proportion of verified chromosomal pathology in the overall group was 21.3%. Among cases of chromosomal pathology most common were Edwards syndrome (53.1%, n=17), Patau syndrome (28.1%, n=9) and Turner syndrome (9.4%, n=3). In 1 case (3.1%) Down syndrome in the fetus was confirmed. Associated structural pathology (41.3%, n=62) was predominantly represented by congenital heart defects, malformations of central nervous, musculoskeletal and urogenital systems. The combination of omphalocele with ectopia cordis was detected in 11 cases, which amounts 17.7% among cases with multiple malformations; in 3 cases of omphalocele with ectopia cordis acrania/anencephaly was additionally found. Rate of associated malformations might have been underestimated in our study population, since 29.3% of patients with omphalocele in the fetus were examined only in the first trimester of pregnancy. The mean term of patients' primary referral was 18.46±7.20 weeks, the proportion of patients referred before 22 weeks of gestation — 78.67%. In cases of fetal chromosomal pathology, the lowest average terms of primary referral (14.81±3.66) and the most advanced maternal age (30.45±6.82) were registered.

Conclusions. In group of fetuses with omphalocele very high rate of associated structural and chromosomal pathology was registered. In most cases primary referral of pregnant women with fetal omphalocele to the tertiary institution was satisfactory for timely complete examination and planning of pregnancy management.

The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of this Institute.

 

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Published

2020-06-29

Issue

No. 2(78) (2020): Ukrainian Journal of Perinatology and Pediatrics

Section

Original articles

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