• Analysis of data of complex prenatal examination in cases of fetal congenital diaphragmatic hernia
en To content Full text of article

Analysis of data of complex prenatal examination in cases of fetal congenital diaphragmatic hernia

PERINATOLOGY AND PEDIATRIC. UKRAINE. 2018.4(76):22-27; doi 10.15574/PP.2018.76.22

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

Purpose — to analyze results of complex prenatal examination of pregnant women with congenital diaphragmatic hernia in the fetus, to provide description of associated structural and chromosomal pathology, to compare some clinical parameters, according to presence of associated pathology.

Patients and methods. A retrospective analysis of the data on ultrasound examinations and invasive procedures in 200 patients with congenital diaphragmatic hernia in the fetus, who were referred to the Department of Fetal Medicine in 2007–2018.

Results. The meanterm of patients' primary referral was 27.37±7.20 weeks, the proportion of patients referred before 22 weeks of pregnancy was 38.5%. Isolated diaphragmatic hernia was diagnosed in 73 % of cases, in combination with other pathology — in 27%. Among associated pathology in 87% of cases there were present other structural anomalies, in 11.1% of cases — chromosomal pathology and structural anomalies, and in one case — chromosomal pathology without signs of other structural pathology. Associated structural malformations were predominantly represented by congenital heart defects, anomalies of central nervous system, genitourinary and musculoskeletal systems. In cases with associated pathology there was significantly lower average term of primary referral than in cases of isolated diaphragmatic hernia (25.39±6.8 weeks vs 28.10±7.2 weeks; p=0.018), and significantly higher rate of patients with polyhydramnios (OR 2.97; 95 % CІ 1.52–5.78) and IUGR (OR 3.54; 95% CI 1.53–6.01).

Conclusions. The mean term of primary referral of patients with fetal congenital diaphragmatic hernia was unsatisfactory for timely complete examination and determination of the pregnancy management. The spectrum o associated structural anomalies in fetuses with diaphragmatic hernia who weren't diagnosed with chromosomal pathology may suspect presence of other syndromic pathology, requiring another methods of investigations.

Key words: congenital diaphragmatic hernia, congenital malformations, chromosomal pathology.


1. Antypkin YuH, Sliepov OK, Veselskyi VL, Hordiienko IIu, Hrasiukova NI, Avramenko TV, Soroka VP, Sliepova LF, Ponomarenko OP. (2014). Suchasni orhanizatsiino-metodychni pidkhody do perynatalnoi diahnostyky ta khirurhichnoho likuvannia pryrodzhenykh vitalnykh vad rozvytku u novonarodzhenykh ditei v umovakh perynatalnoho tsentru. Zhurnal Natsionalnoi akademii medychnykh nauk Ukrainy. 20(2): 189–199.

2. Guseva OI. (2005). Perinatalnyie ishodyi i prognoz pri diafragmalnoy gryizhe. Ultrazvukovaya i funktsionalnaya diagnostika. 6: 19—27.

3. Ackerman KG, Vargas SO, Wilson JA, Jennings RW, Kozakewich HP, Pober BR. (2012). Congenital diaphragmatic defects: proposal for a new classification based on observations in 234 patients. Pediatr Dev Pathol. 15(4): 265—274. https://doi.org/10.2350/11-05-1041-OA.1; PMid:22257294 PMCid:PMC3761363

4. Bell MJ, Trenberg JL. (1977). Antenatal diagnosis of diaphragmatic hernia. Pediatrics. 60(5): 738—740. PMid:917637

5. Bhat YR, Kumar V, Rao A. (2008). Congenital diaphragmatic hernia in a developing country. Singapore Medi. 49(9): 715—718.

6. Chinn DH, Filly RA, Callen PW, Nakayama DK, Harrison MR. (1983). Congenital diaphragmatic hernia diagnosed prenatally by ultrasound. Radiology. 148(1): 119—123. https://doi.org/10.1148/radiology.148.1.6856820; PMid:6856820

7. Colvin J, Bower C, Dickinson JE, Sokol J. (2005). Outcomes of congenital diaphragmatic hernia: a population-based study in Western Australia. Pediatrics. 116(3): e356—363. https://doi.org/10.1542/peds.2004-2845; PMid:16140678

8. Done E, Gucciardo L, VanMieghem T, Jani J, Cannie M, VanSchoubroeck D, Devlieger R, Catte LD, Klaritsch P, Mayer S, Beck V, Debeer A, Gratacos E, Nicolaides K, Deprest J. (2008). Prenatal diagnosis, prediction of outcome and inutero therapy of isolated congenital diaphragmatic hernia. Prenat Diagn. 28(7): 581—591. https://doi.org/10.1002/pd.2033; PMid:18634116

9. Doray B, Girard-Lemaire F, Gasser B, Baldauf JJ, De Geeter B, Spizzo M, Zeidan C, Flori E. (2002). Pallister-Killian syndrome: difficulties of prenatal diagnosis. Prenat Diagn. 22: 470—477. https://doi.org/10.1002/pd.342; PMid:12116305

10. Gallot D, Boda C, Ughetto S, Perthus I, Robert-Gnansia E, Francannet C, Laurichesse-Delmas H, Jani J, Coste K, Deprest J, Labbe A, Sapin V, Lemery D. (2007). Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study. Ultrasound Obstet Gynecol. 29: 276—283. https://doi.org/10.1002/uog.3863; PMid:17177265

11. Gordienko IY, Slepov OK, Tarapurova OM, Grebinichenko GO, Velichko AV. (2016). Impact of prenatal evaluation of congenital malformations in fetus on postoperative mortality. The Journal of Maternal-Fetal & Neonatal Medicine. 29(1): 19.

12. Kantarci S, Casavant D, Prada C, Russell M, Byrne J, Haug LW, Jennings R, Manning S, Boyd TK, Fryns JP, Holmes LB, Donahoe PK, Lee C, Kimonis V, Pober BR. (2006). Findings from a CGH in patients with congenital diaphragmatic hernia (CDH): A possible locus for Frynssyndrome. Am J Med Genet A. 140: 17—23. https://doi.org/10.1002/ajmg.a.31025; PMid:16333846 PMCid:PMC2891730

13. Kitagawa M, Hislop A, Boyden EA, Reid L. (1971). Lung hypoplasia in congenital diaphragmatic hernia. A quantitative study of airway, artery, and alveolar development. Br J Surg. 58(5): 342—346. https://doi.org/10.1002/bjs.1800580507; PMid:5574718

14. Laudy JA, Wladimiroff JW. (2000). The fetallung. 2: Pulmonaryhypoplasia. Ultrasound Obstet Gynecol. 16(5): 482—494. https://doi.org/10.1046/j.1469-0705.2000.00252.x; PMid:11169336

15. Marino T, Wheeler PG, Simpson LL, Craigo SD, Bianchi DW. (2002). Fetal diaphragmatic hernia and upperlimb anomalies suggest Brachmann-de Langesyndrome. Prenat Diagn. 22: 144—147. https://doi.org/10.1002/pd.281; PMid:11857622

16. Neri G, Gurrieri F, Zanni G, Lin A. (1998). Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J MedGenet. 79: 279—283. https://doi.org/10.1002/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H

17. Perrelli L, Calisti A, Romagnoli C, Noia G. (1983). Antenatal ultrasonic demonstration of congenital diaphragmatic hernia. Z Kinderchir. 38(2): 108—109. https://doi.org/10.1055/s-2008-1059949

18. Pober BR. (2007). Over view of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet. 15; 145C(2): 158—171.

19. Safonova I, Lukjanova I, Zhadan O. (2017) Ultraso und Imagesand Postnatal Clinical Outcomesin Primary and Secondary Abnormalities of Fetal Brain (Series of 53 Cases). MOJ Clin Med Case Rep. 6(1): 00144. https://doi.org/10.15406/mojcr.2017.06.00144.

20. Shanmugam H, Brunelli L, Botto LD, Krikov S, Feldkamp ML. (2017). Epidemiology and Prognosis of Congenital Diaphragmatic Hernia: A Population-Based Cohort Study in Utah. Birth Defects Res. 1; 109(18): 1451—1459.

21. Stoll C, Alembik Y, Dott B, Roth MP. (2015). Associated nondiaphragmatic anomalies among cases with congenital diaphragmatic hernia. Genet Couns. 26(3): 281—298. PMid:26625659

22. The Canadian Congenital Diaphragmatic Hernia Collaborative. (2018). Diagnosis and management of congenital diaphragmatic hernia: a clinical practice guideline CMAJ. 29; 190: E103—11.

Article received: Aug 13, 2018. Accepted for publication: Nov 28, 2018.