First Trimester Diagnosis of VACTERL Association
نویسندگان
چکیده
VACTERL association (OMIM 192350) is a non-random combination of multiple congenital malformations including vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies. The wide spectrum of defects suggests the occurrence of defective development during early embryogenesis. The authors report a case of a complex polymalformative association detected by ultrasound in the first trimester of pregnancy. The ensuing fetal study revealed the presence of vertebral, anorectal, renal and limb anomalies and therefore was considered a case of VACTERL association. This complex association generally entails a poor prognosis. Its early detection allows discussion of management options, including medical termination of pregnancy.
منابع مشابه
Association of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies with auricle atresia; a case report
Association of vertebral, anal, cardiac, tracheoesophageal, renal and limb anomalies (VACTERL) is rare anomaly with an incidence of 1.6 per 10000 births. This condition is a combination of anomalies recognized as a hereditary entity with poor prognosis. Herein, we report VACTERL association presenting with auricle atresia. A male neonate with a birth weight of 2690 grams, head circumference 3...
متن کاملTwo Cases of VACTERL Association in Pregnancy with Lymphocyte Therapy
VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. The first case was 1-day old male neonate with multiple congenital an...
متن کاملMitochondrial Factors and VACTERL Association-Related Congenital Malformations.
VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER associa...
متن کاملOesophageal atresia, VACTERL association: Fanconi's anaemia related spectrum of anomalies.
Oesophageal atresia usually occurs without any genetic background. Three cases associated with Fanconi's anaemia are reported. One neonate had growth retardation and numerous malformations including oesophageal atresia and four other components of the VACTERL association. In the two others, oesophageal atresia was isolated. In patients with such malformations an early diagnosis of Fanconi's ana...
متن کاملVACTERL association in the newborn
VACTERL association is a non-random association of birth (congenital) defects that affects multiple median and para-median structures. VACTERL association is a useful acronym to denote vertebral abnormalities (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal or radial abnormalities (R), and limb abnormalities (L). Atleast 3 or more defects must be present to mak...
متن کامل