Ultrasound relevance in prental diagnosis of VACTERL association - two clinical cases
Keywords:fetal malformations, fetal ultrasound, prenatal diagnosis, VACTERL association
VATER is a nonrandom association of congenital defects with common developmental pathogenesis including/which includes malformations like vertebral defects, anal atresia or imperforate anus, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia. VATER acronym was initially used to describe this association, but other malformations, like cardiac defects and limb anomalies, were later also considered cardinal features and included, changing the acronym to VACTERL.
Although few cases have been reported, VATER/VACTERL spectrum association can be detected in first-trimester ultrasound.
Herein, the authors describe two cases of VATER/VACTERL association suspected during the 12-week ultrasound and confirmed in anatomopathological study. Prenatal VACTERL association diagnosis is challenging and rarely detected in the first pregnancy trimester. It requires skill and experience to interpret ultrasound findings and some features are difficult to recognize before birth. Early diagnosis is important for parental counselling and delivery planning. Management options include medical pregnancy termination and delivery in a tertiary center to improve outcomes.
Solomon, B. VACTERL/VATER Association.: Orphanet J Rare Dis, 2011, 6:56.
Krapp M, Geipel A, Germer U, Krokowski M, Gembruch U.First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. Prenat Diagn. 2002; 22:422-4.
Gilbert-Barness E. Potter’s Pathology of Fetus, Infant and Child. 2nd ed. vol 1 chap1. Philadelphia: Mosby; 2007.
Bergmann C, Zerres K, Peschgens T, Senderek J, Hörnchen H, Rudnik-Schöneborn S.. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC). Am J Med Genet A. 2003; 121A:151-5.
Debich-Spicer, Gilbert-Barness E. Embryo & Fetal Pathology color atlas with ultrasound correlation. Cambridge University Press, 2004.
Jongsong T, Wanapirak C, Piyamongkol W, Sudasana J. Prenatal sonographic diagnosis of VATER association. J Clin Ultrasound. 1999; 27:378-84.
Lam Y,Shek T, Tang M. Sonographic features of anal atresia at 12 weeks. Ultras Obstet Gyneco. 2002; 19:523–4.
Dane B, Kayaoğlu Z, Dane C and Aksoy F. VACTERL-H syndrome: first trimester diagnosis. J Turk Ger Gynecol Assoc. 2011; 12:266–9.
Krapp M, Geipel A, Germer U, Krokowski M and Gembruch U. First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. Prenat Diagn. 2002; 22:422-4.
Santos J, Nogueira R, Pinto R, Cerveira I, Pereira S. First trimester diagnosis of VACTERL association. Clinics and Practice. 2013; 3:e5.
Källén K, Mastroiacovo P, Castilla EE, Robert E, Källén B. VATER non-random association of congenital malformations: study based on data from four malformation registers. Am J Med Genet. 2001; 101:26-32.
Solomon B, Bear KA, Kimonis V, de Klein A. Clinical Geneticists’ Views of VACTERL/VATER. Am J Med Genet, 2012, 158A:3087–100.
Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, et al. An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophagealatresia, cardiac defects, renal and limb anomalies) association. J Pediatr. 2014; 164:451–7.e1.
Mori M, Matsubara K, Abe E, Matsubara Y, Katayama T, Fujioka T, et al. Prenatal diagnosis of persistent cloaca associated with VATER (vertebral defects, anal atresia, tracheo-esophageal fistula, and renal dysplasia). Tohoku J Exp Med. 2007; 213:291-5.
Debost-Legrand A, Goumy C, Laurichesse-Delmas H, Déchelotte P, Perthus I, Francannet C, et al. Prenatal diagnosis of the VACTERL association using routine ultrasound examination. Birth Defects Res A Clin Mol Teratol. 2015; 103:880-6.
Ertugrul I, Dogan V, Beken S, Ozgur S, Okumuş N, Orün UA, et al. UHL’S anomaly as a part of VACTERL association. Genet Couns. 2015; 26:273-6.
How to Cite
Copyright and access
This journal offers immediate free access to its content, following the principle that providing free scientific knowledge to the public provides greater global democratization of knowledge.
The works are licensed under a Creative Commons Attribution Non-commercial 4.0 International license.
Nascer e Crescer – Birth and Growth Medical Journal do not charge any submission or processing fee to the articles submitted.