PP-18 Prenatal sonographic diagnosis of VACTERL syndrome

Objective

VACTERL syndrome is a genetic syndrome that occurs in 1 in 10,000 to 40,000 newborns. No specific genetic or chromosomal defect associated with VACTERL syndrome has been identified. It is defined by the presence of vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and at least three of the limb abnormalities seen on ultrasonography.  In this report, we aimed to present the prenatal diagnosis of a case of VACTERL syndrome with multiple fetal anomalies.[2]

Case

A 30-year-old patient with a gravida 2, parity 1, 22 weeks and 3 days gestation according to the last menstrual period was admitted to the prenatal diagnosis and treatment unit of our clinic for fetal anomaly screening. Ultrasonography showed positive fetal heartbeat, normal amniotic volume and small biometric measurements according to the gestational age. Fetal neurosonography showed lemon sign and banana sign (figure 1) and vertebral evaluation revealed open spina bifida (meningomyelocele) at the S1-S4 level of the sacral vertebrae. Fetal abdominal examination revealed gastroschisis (figure 2) and horseshoe kidney anomaly. Fetal echocardiography showed complete AVSD. Fetal extremity examination revealed bilateral pes equinovarus and genital examination revealed anal atresia. The family was informed in detail about the possible poor fetal/neonatal prognosis of the fetus with VACTERL syndrome in the foreground and invasive prenatal diagnostic test and termination of pregnancy were presented as options. The patient underwent amniocentesis. Without waiting for the results of amniocentesis, the patient and her husband requested termination of the pregnancy due to multiple fetal anomalies present in the fetus. After termination of pregnancy, fetal autopsy confirmed the prenatal findings (figure 3).
 

Discussion

Numerous studies have investigated over 400 cases involving fetuses with VACTERL syndrome and partial caudal regression syndrome. The reported incidence rates of various abnormalities were as follows: spine abnormalities ranged from 60% to 80%, anal atresia from 55% to 90%, tracheoesophageal abnormalities from 50% to 80%, cardiac malformations from 40% to 80%, limb malformations from 40% to 50%, and kidney malformations from 50% to 80%. In conclusion, prenatal ultrasonic diagnosis plays an indispensable role in identifying VACTERL syndrome and partial caudal regression syndrome, offering valuable guidance for obstetric treatment. Its clinical implementation is highly warranted.[1]

Conclusion

VACTERL syndrome is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities. In addition to these main component features, patients may have other congenital anomalies. It is possible to suspect the diagnosis by antenatal ultrasonography. It is important to detect, suspect and investigate further when the first signs appear on a routine ultrasound scan.

Keywords

Cardiac malformation, limb anomaly, vertebral defect, VACTERL

1. Van de Putte, R., van Rooij, I.A.L.M., Marcelis, C.L.M. et al. Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study. Pediatr Res87, 541–549 (2020). 
2. Zhang W, Chen J. Prenatal diagnosis of VACTERL association in the first trimester. Prenat Diagn. 2022 Apr;42(4):482-483. 
3. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis. 2011;6:56. 
4. Guthrie JD, DeCosta L. Prenatal Diagnosis of VACTERL Association. Journal of Diagnostic Medical Sonography. 2012;28(5):245-249.

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