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Year : 2003  |  Volume : 13  |  Issue : 1  |  Page : 89-90
Antenatal diagnosis of vacterl anomaly

Smt. S.C.L. Municipal general Hospital, Saraspur, Ahmedabad, India

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Keywords: Vacterl, Congenital Anomalies, Atresia

How to cite this article:
Dani R D, Gandhi V, Thakkar G N, Chandnani P N, Patel N A. Antenatal diagnosis of vacterl anomaly. Indian J Radiol Imaging 2003;13:89-90

How to cite this URL:
Dani R D, Gandhi V, Thakkar G N, Chandnani P N, Patel N A. Antenatal diagnosis of vacterl anomaly. Indian J Radiol Imaging [serial online] 2003 [cited 2021 Feb 28];13:89-90. Available from:

   Introduction Top

VACTERL association is non-random tendency for six types of Birth defects to associate together.

The acronym VACTERL stands for : Vertebral defect, Anal atresia, Cardiac anomaly, Tracheoesophageal fistula with Esophageal Atresia, Renal defects and radial Limb dysplasia.

Patient exhibiting any three or more of these defects are considered VACTERL cases.

We would like to present a case of VACTERL association diagnosed by antenatal ultrasound.

   Case report Top

A third gravida pregnant woman was referred for routine antenatal ultrasound at thirty weeks of gestational age. Ultrasound examination [Figure - 2][Figure - 3][Figure - 4] revealed non visualization of stomach and small bowel loops, right sided multicystic kidney, hemi vertebra, pre- Sacral septated cystic mass posterior to bladder (possibility of anterior sacral Meningocele) and polyhydroamnios. Antenatal diagnosis of VACTERL association was considered.

Postnatal plain x-ray chest and abdomen [Figure - 1] with infant feeding tube in situ revealed High esophageal atresia with gasless abdomen, hemi vertebra with rib anomalies. Postnatal ultrasound confirmed the presence of multicystic kidney on right side, left kidney was normal.

Clinically it was male child, also had imperforated anus as it failed to pass meconium. The neonate expired after four hours of life.

   Discussion Top

In 1972, Quan-et-al, described the association of vertebral defects, anal atresia, tracheo-oesophageal fistula with oesophageal atresia, renal defect and radial limp dysplasia. VACTER is the acronym that was used to delineate these defects. In 1983, Khour-et-al included congenital cardiac, limbs anomalies in the association, which is now commonly referred as VACTERL association [1]. Male preponderance is seen with incidence of 1 in 10,000 live births.

On antenatal ultrasound presence of polyhydroamnios with non-visualization of bowel loops is suggestive of gastrointestinal tract obstruction. Multicystic kidney shows multiple non-communicating cysts in the kidney which are randomly distributed.

And distort the reniform shape. In the presence of normal opposite kidney, the amniotic fluid index is normal and bladder appear distended. But in this case because of associated gastrointestinal anomaly amniotic fluid index was increased. Hemi-vertebra is seen as notch in the in longitudinal scan.

Vertebral anomalies and anorectal, tracheo-osophageal defects are the main manifestation in VACTERL association. Radial defects vary from aplasia to thumb duplication. Heart and renal defects are reported with lower frequency [2].

When a diagnosis of VACTERL defect is made, an infant need to be assessed more carefully for the presence of other components of the association. Also, as many as one third of infants with multiple defects including 3 or more of the VACTERL component are shown to have other recognized disorders, If other disorders are ruled out, prognosis for this association is directly related to the prognosis of the involved defect [1].

Besides the VACTERL association, infants with esophageal atresia and tracheo-esophageal fistula may have other midline defects such as cleft lip and plate, sacral agenesis and urogenital anomalies. VACTERL association have higher proximal pouches and more complications than infants with isolated esophageal atresia and tracheo-esophageal fistula [1]. Medical problems reported are esophageal dismotility, gastro-esophageal reflux, chest infections and autosomal dysfunction.

Bronchoaspiration and associated anomalies relate to mortality in esophageal atresia [1],[3],[4].

In renal anomaly associated with additional malformations, the risk for chromosomal abnormalities is significantly increased : 30 times for multiple defects versus 3 times for isolated renal defects [5].

In infants with anorectal malformations associated anomalies involving major systems include genitourinary anomalies, musculoskeletal anomalies, craniofacial anomalies, cardiovascular anomalies and gastrointestinal anomalies. The most common chromosomal abnormalities are trisomies. It is these associated anomalies that accounts for most of the morbidity and moratality that is associated with these conditions [6].

Fetus with isolated hemi vertebra have an excellent prognosis, where as those with other anomalies 9 cardiac, intestinal 0 have poor prognosis [5].

We conclude by emphasizing the importance of antenatal ultrasound examination in diagnosis of congenital anomalies which helps in deciding further antenatal management and planning for postnatal intervention.

   References Top

1.A very's diseases of the newborn (7th ed) p224, 980.  Back to cited text no. 1    
2.VACTER/VACTERL association : clinical variability and expanding phenotype Including laryngeal stenosis (published erratum appears in Am J Med Genet 1993 Aug 1;47 (1);118)  Back to cited text no. 2    
3.Esophageal atresia and associated anomalies. Anales espanoles de pediatria (SPAIN) Jun 1192 36 (6) o4555-9 ISSN;0302-4342.  Back to cited text no. 3    
4.Oesophageal atresia, related malformations, and medical problems; a family study. Brown AK; Roddam AW; Spitz L; Ward SJ American journal of medical genetics Jul 2 1999 85 (1) p 31-7 ISSN; 0148-7299.  Back to cited text no. 4    
5.Diagnostic Ultrasound : Carol M. Rumack, Stephanie R. Wilson, J. William]Charboneau (2nd ed) p1099, 1299 Mosby..  Back to cited text no. 5    
6.One Hundred three consecutive patients with anorectal malformations and their associated anomalies, Archives of pediatrics and adolescent medicine (United states) May 2001 155; (5); P587-91 ISSN; 1072-4710.  Back to cited text no. 6    

Correspondence Address:
R D Dani
Smt. S.C.L. Municipal general Hospital, Saraspur, Ahmedabad
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Source of Support: None, Conflict of Interest: None

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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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