International Journal of Clinical Science and Medical Research

Multiple congenital fetal anomalies involving the anterior thoracoabdominal wall, cranial vault, and ocular structures are rare and are associated with high perinatal mortality and a poor prognosis. Prenatal ultrasonography plays a pivotal role in the early detection of these anomalies, facilitating accurate diagnosis, parental counselling, multidisciplinary management, and informed decision-making, particularly in resource-limited settings. We report the prenatal ultrasonographic diagnosis of multiple severe congenital anomalies in a 32-year-old gravida 4, para 3 woman who underwent a routine second-trimester fetal anomaly scan at 26 weeks' gestation. Two-dimensional ultrasonography demonstrated a live singleton fetus with ectopia cordis, a membrane-covered liver-containing omphalocele, posterior encephalocele, and unilateral microphthalmia. Because the cranial and anterior abdominal wall defects distorted the fetal anatomy, gestational age was determined using the femur length, which measured 45.3 mm, corresponding to 26 weeks' gestation. Spectral Doppler confirmed fetal cardiac activity with a heart rate of 128 beats per minute. The combination of ectopia cordis and omphalocele raised suspicion for an incomplete form of pentalogy of Cantrell, although definitive confirmation was not possible because fetal echocardiography, fetal magnetic resonance imaging, prenatal genetic testing, and postnatal pathological examination were unavailable. Following multidisciplinary counselling regarding the severe congenital anomalies and poor fetal prognosis, the parents elected medical termination of the pregnancy. This case highlights the diagnostic value of meticulous prenatal ultrasonography in identifying complex multisystem congenital anomalies, the importance of selecting unaffected biometric parameters when conventional measurements are unreliable, and the critical role of early diagnosis in facilitating appropriate counselling and individualized pregnancy management in resource-constrained healthcare settings.

Prenatal ultrasonography, ectopia cordis, omphalocele, encephalocele, microphthalmia, pentalogy of Cantrell

1. World Health Organization. Congenital anomalies. Geneva: World Health Organization; 2023. 
2. Salomon LJ, Alfirevic Z, Berghella V, Bilardo CM, Chalouhi GE, Da Silva Costa F, Hernandez-Andrade E, Malinger G, Munoz H, Paladini D, Prefumo F. ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan. Ultrasound in Obstetrics & Gynecology. 2022;59(6):840-56.
3. Salomon LJ, Alfirevic Z, Da Silva Costa F, Deter RL, Figueras F, Ghi TA, Glanc P, Khalil A, Lee W, Napolitano R, Papageorghiou A. ISUOG Practice Guidelines: ultrasound assessment of fetal biometry and growth. Ultrasound in obstetrics & gynecology. 2019 Jun;53(6):715-23.
4. Carvalho JS, Axt-Fliedner R, Chaoui R, Copel JA, Cuneo BF, Goff D, Gordin Kopylov L, Hecher K, Lee W, Moon-Grady AJ, Mousa HA. ISUOG Practice Guidelines (updated): fetal cardiac screening. Ultrasound Obstet Gynecol. 2023 Jun 2;61(6):788-803.
5. Pius S, Abubakar Ibrahim H, Bello M, Bashir Tahir M. Complete ectopia cordis: a case report and literature review. Case Reports in Pediatrics. 2017;2017(1):1858621.
6. Adams AD, Stover S, Rac MW. Omphalocele—what should we tell the prospective parents?. Prenatal diagnosis. 2021 Mar;41(4):486-96.
7. Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart. Surg Gynecol Obstet. 1958 Nov 1;107(5):602-14.
8. Toyama WM. Combined congenital defects of the anterior abdominal wall, sternum, diaphragm, pericardium, and heart: a case report and review of the syndrome. Pediatrics. 1972 Nov 1;50(5):778-92.
9. Williams AP, Marayati R, Beierle EA. Pentalogy of cantrell. InSeminars in pediatric surgery 2019 Apr 1 (Vol. 28, No. 2, pp. 106-110). WB Saunders.
10. Mraihi F, Basly J, Mezni A, Ghali Z, Hafsi M, Chelli D. The pentalogy of Cantrell: A rare and challenging prenatal diagnosis. International Journal of Surgery Case Reports. 2023 Nov 1;112:108941.
11. Papageorghiou AT, Ohuma EO, Altman DG, Todros T, Ismail LC, Lambert A, Jaffer YA, Bertino E, Gravett MG, Purwar M, Noble JA. International standards for fetal growth based on serial ultrasound measurements: the Fetal Growth Longitudinal Study of the INTERGROWTH-21st Project. The Lancet. 2014 Sep 6;384(9946):869-79.
12. Verla MA, Style CC, Olutoye OO. Prenatal diagnosis and management of omphalocele. InSeminars in pediatric surgery 2019 Apr 1 (Vol. 28, No. 2, pp. 84-88). WB Saunders.
13. Dąbkowska S, Kucińska‐Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J. Prenatal diagnosis and clinical significance of cephalocele—A single institution experience and literature review. Prenatal Diagnosis. 2020 Apr;40(5):612-7.
14. Searle A, Shetty P, Melov SJ, Alahakoon TI. Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports. Journal of Medical Case Reports. 2018 Aug 29;12(1):250.
15. Cortés‐Enríquez OD, Tapia‐Fonseca CV, Torres‐Fuentes MA, Torres‐Riojas PB, Raya‐Garza LP. Limb–body wall complex: Literature review and case report. Birth Defects Research. 2024 Mar;116(3):e2322.
16. Seeds JW, Cefalo RC, Herbert WN. Amniotic band syndrome. American journal of obstetrics and gynecology. 1982 Oct 1;144(3):243-8.
17. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S. Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine. 2012 Dec 6;367(23):2175-84.
18. Shi X, Tang H, Lu J, Yang X, Ding H, Wu J. Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing. Annals of medicine. 2021 Jan 1;53(1):1286-92.