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Case ReportOpen Access
Prenatal Diagnosis of V ACTERL Association : A Case Report
A prenatal diagnosis of V ACTERL association, a combination of vertebral (V), anal
(A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) anomalies was made at 30
weeks of gestation, based on the sonographic demonstration of vertebral defects, bilateral renal
agenesis, and left lower limb defects. Additionally, severe oligohydramnios and fetal growth
restriction were also documented. After proper counseling, elective termination of pregnancy
was done, resulting in a stillborn infant with multiple malformations compatible with the
V ACTERL association. The postnatal X-ray and autopsy revealed verterbral defects, anorectal
atresia with undetermined sex, cardiac defect of ventricular septal defect, tracheal agenesis with
distal atresia of esophagus, bilateral renal agenesis, and limbs defects. The chromosomal study
revealed normal, 46,XY. This report emphasizes the important role of prenatal ultrasound in the
diagnosis and management of this disorder.
Key word : V ACTERL Association, Prenatal Diagnosis, Ultrasound
(A), cardiac (C), tracheoesophageal (TE), renal (R) and limb (L) anomalies was made at 30
weeks of gestation, based on the sonographic demonstration of vertebral defects, bilateral renal
agenesis, and left lower limb defects. Additionally, severe oligohydramnios and fetal growth
restriction were also documented. After proper counseling, elective termination of pregnancy
was done, resulting in a stillborn infant with multiple malformations compatible with the
V ACTERL association. The postnatal X-ray and autopsy revealed verterbral defects, anorectal
atresia with undetermined sex, cardiac defect of ventricular septal defect, tracheal agenesis with
distal atresia of esophagus, bilateral renal agenesis, and limbs defects. The chromosomal study
revealed normal, 46,XY. This report emphasizes the important role of prenatal ultrasound in the
diagnosis and management of this disorder.
Key word : V ACTERL Association, Prenatal Diagnosis, Ultrasound
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