Results of complex prenatal examination of fetuses with omphalocele
DOI:
https://doi.org/10.15574/PP.2020.82.56Keywords:
omphalocele, congenital malformations, ectopia cordis, chromosomal pathologyAbstract
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.
References
Antypkin YuG, Slepov OK, Veselskyy VL, Gordienko IYu, Hrasiukova NI, Avramenko TV, Soroka VP, Slepova LF, Ponomarenko OP (2014). Modern organizational and methodical approaches to prenatal diagnostics and surgical treatment of vital congenital malformations in newborns in the perinatal center. Journal of the National Academy of Medical Sciences of Ukraine. 20 (2): 189–199.
Barisic I., Clementi M, Hausler M, Gjergja R, Kern J, Stoll C, Euroscan Study Group. (2001). Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by19 European registries. Ultrasound Obstet Gynecol. 8 (4): 309–316. https://doi.org/10.1046/j.0960-7692.2001.00534.x; PMid:11778988
Bouchahda H, El Mhabrech H, Hamouda HB, Ghanmi S, Bouchahda R, Soua H. (2017). Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother. Pan Afr Med J. 16; 27: 128. https://doi.org/10.11604/pamj.2017.27.128.12041; PMid:28904658 PMCid:PMC5568004
Brantberg A, Blaas HG, Haugen SE, Eik-Nes SH. (2005). Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol. 26 (5): 527–537. https://doi.org/10.1002/uog.1978; PMid:16184512
Canterll JR, Haller JA, Ravitch MM. (1958). A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 107: 602–614.
Christison-Lagay ER, Kelleher CM, Langer JC. (2011). Neonatal abdominal wall defects. Semin Fetal Neonatal Med. 16 (3): 164–172. https://doi.org/10.1016/j.siny.2011.02.003; PMid:21474399
Cohen-Overbeek TE, Tong WH, Hatzmann TR, Wilms JF, Govaerts LC, Galjaard RJ, Steegers EA, Hop WC, Wladimiroff JW, Tibboel D. (2010). Omphalocele: comparison of outcome following prenatal or postnatal diagnosis. Ultrasound Obstet Gynecol. 36 (6): 687–692. https://doi.org/10.1002/uog.7698; PMid:20509138
Conner P, Vejde JH, Burgos CM. (2018). Accuracy and impact of prenatal diagnosis in infants with omphalocele. Pediatr Surg Int. 34 (6): 629–633. https://doi.org/10.1007/s00383-018-4265-x; PMid:29637257 PMCid:PMC5954074
Davidenko VB, Grechanina OYa, Pashenko YuV, Vyun VV, Lapshin VV, Basilashvili YuV (2013). Early diagnostics and treatment of congenital malformations. Clinical genetics and perinatal diagnostics. 1 (2): 99–102.
Deng K, Qiu J, Dai L, Yi L, Deng C, Mu Y, Zhu J. (2014). Perinatal mortality in pregnancies with omphalocele: data from the Chinese national birth defects monitoring network, 1996–2006. BMC Pediatr. 23; 14: 160. https://doi.org/10.1186/1471-2431-14-160; PMid:24953381 PMCid:PMC4075420
Diaz-Serani R, Sepulveda W. (2019). Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis. Fetal Pediatr Pathol. 19: 1–7. https://doi.org/10.1080/15513815.2019.1629132; PMid:31215820
Duhamel B. (1963). Embryology of Exomphalos and Allied Malformations. Arch Dis Child. 38 (198): 142–147. https://doi.org/10.1136/adc.38.198.142; PMid:21032411 PMCid:PMC2019006
Fratelli N, Papageorghiou AT, Bhide A, Sharma A, Okoye B, Thilaganathan B. (2007). Outcome of antenatally diagnosed abdominal wall defects. Ultrasound Obstet Gynecol. 30 (3): 266–270. https://doi.org/10.1002/uog.4086; PMid:17674424
Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C. (2007). Prenatal ascertainment of OEIS complex/cloacal exstrophy-15 new cases and literature review. Am J Med Genet Part A, 143A: 2122–2128. https://doi.org/10.1002/ajmg.a.31897; PMid:17702047
Luchak MV, Hnateiko OZ, Lukianenko NS, Kosmynina NS. (2012). Analysis of the frequency of concomitant anomalies among children with congenital malformation of the development of the gastrointestinal tract, the arterior abdominal wall and diaphragm. Bukovinian Medical Herald. 16; 4 (64): 102–104.
Mandrekar SR, Amoncar S, Banaulikar S, Sawant V, Pinto RG. (2014). Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex). Indian J Hum Genet. 20 (2): 195–198. https://doi.org/10.4103/0971-6866.142906; PMid:25400352 PMCid:PMC4228575
Pakdaman R, Woodward PJ, Kennedy A (2015). Complex abdominal wall defects: appearances at prenatal imaging. Radiographics. 35 (2): 636–649. https://doi.org/10.1148/rg.352140104; PMid:25763744
Pepper MA, Fishbein GA, Teitell MA. (2013). Thoracoabdominal wall defect with complete ectopia cordis and gastroschisis: a case report and review of the literature. Pediatr Dev Pathol. 16 (5): 348–352. https://doi.org/10.2350/13-03-1318-CR.1; PMid:23688328
Prevalence Tables. Example table — Cases and prevalence (per 10,000 births) for all full member registries from 2012 to 2016. EUROCAT. (n.d.). Retrieved from WHO Collaborating Centre for the Surveillance of Congenital Anomalies.: http://www.eurocat-network.eu/accessprevalencedata/prevalencetables
Sadler TW. (2012). Langman's medical embryology — 12th ed. Baltimore: Lippincott Williams & Wilkins.
Tarapurova OM, Gordienko IYu, Nikitchyna TV, Sliepov OK, Chumalova LF. (2006). Prenatal diagnosis and management of pregnancy with congenital malformations of the abdominal wall in the fetus. Ultrasound perinatal diagnosis. 22: 59—71.
Winslow M. (2016). Sonographic Diagnosis of Thoracic Ectopia Cordis With Acrania. Journal of Diagnostic Medical Sonography. 32 (4): 234–236. https://doi.org/10.1177/8756479316652479
Zork NM, Pierce S, Zollinger T, Kominiarek M. (2014). Predicting fetal karyotype in fetuses with omphalocele: The current role of ultrasound. J Neonatal Perinatal Med. 7 (1): 65–69. https://doi.org/10.3233/NPM-1475013; PMid:24815707 PMCid:PMC4890600
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