A Novel Co-occurrence of VACTERL and Closed Neural Tube Defect
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A Novel Co-occurrence of VACTERL and Closed Neural Tube Defect Neha Gupta1
•
Preeti Singh2
Received: 9 June 2020 / Accepted: 20 August 2020 / Published online: 16 September 2020 Ó Society of Fetal Medicine 2020
Abstract VACTERL is a nonrandom association of congenital anomalies and is an acronym for vertebral (V) or vascular (V), anomalous, anal (A), cardiac (C), tracheoesophageal (TE) fistula, renal anomalies (R) and limb (L) abnormalities. At least 3 components are required to make a diagnosis. We present a case with 4 components of the association—single umbilical artery, anorectal malformation, unilateral renal agenesis and limb abnormalities. There was also a closed neural tube defectlipomyelomeningocele with tethered cord. The presence of a neural tube defect with VACTERL makes this a unique case since the reported vertebral anomalies in VACTERL are non dysraphic. Keywords VACTERL NTD Clubhand CTEV Renal agenesis SUA Lipomyelomeningocele
Introduction VACTERL is an acronym that describes a non-random group of congenital anomalies. It is an association and not a syndrome as there is no known pathogenetic cause to explain the grouped incidence [1, 2]. At least 3 of the following components are required to make the diagnosis [1, 2]: (i) (ii) (iii) (iv) (v) (vi)
V—vertebral anomalies (60–80% of patients) or vascular anomalies A—anal atresia (55–90%) C—cardiac defects (40–80%) TE—tracheoesophageal fistula (50–80%) R—renal anomalies (50–80%), and L—limb abnormalities (40–50%).
Case Report
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s40556-020-00267-2) contains supplementary material, which is available to authorized users. & Neha Gupta [email protected] Preeti Singh [email protected] 1
Senior Consultant Fetal Medicine Department, Kailash Hospital, C-601, Amrapali Platinum Apartments, Sector 119, Noida 201305, India
2
Senior Consultant, Obstetrics and Gynaecology Department, Kailash Hospital, 302, Aster 7, Supertech Emerald Court, Sector 93A, Noida 201301, India
24-year-old primigravida presented at 20 weeks for a routine anomaly scan to the Fetal Medicine Department of Kailash hospital, Noida, India. She had a spontaneous conception and a non-consanguineous marriage. Her first trimester screening sonogram done elsewhere at 12 weeks was reported to be normal. The ultrasound was performed by a trained fetal medicine specialist with a GE Voluson E6 Radiance transabdominal volume probe RAB6-D 2–7 MHz (GE Healthcare, Milwaukee, USA). An informed consent was taken from the parents for publishing the research. The article is in accordance with the principles outlined in the Declaration of Helsinki. On scan, there was a single umbilical artery (Fig. 1, video 1). There was a retro-vesicular cyst measuring
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J. Fetal Med. (September 2020) 7:253–258
Fig. 1 Coronal view shows retro-vesicular cyst and single umbilical artery
29 9 7 mm in the pelvis behind the urinary bladder and reaching down to the lower e
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