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Neonatal and General paediatric Surgery
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Congenital cardiac malformations are the single most common anomalies and are responsible for the majority of deaths. Cardiac defects occur in 25–40% of patients and, of these, ventricular septal defects and tetralogy of Fallot are the most common. The VATER association of defects is well-recognised (V = vertebral, A = anorectal, TE = tracheo-oesophageal, R = radial and/or renal anomalies) with the term ‘VACTERL’ used to denote also cardiac and limb defects.
Variation of sex differentiation
Published in Joseph S. Sanfilippo, Eduardo Lara-Torre, Veronica Gomez-Lobo, Sanfilippo's Textbook of Pediatric and Adolescent GynecologySecond Edition, 2019
Anne-Marie Amies Oelschlager, Margarett Shnorhavorian
Medical history: A careful history of other anomalies is important to assess for syndromes associated with DSD conditions. Although a unified genetic etiology has not been identified for VATER and VACTERL association, the association often includes anomalies of the external genitalia, vagina, and Müllerian structures. Additionally, any history of neonatal hypoglycemia or jaundice may indicate hypopituitarism or growth hormone deficiencies.
SBA Answers and Explanations
Published in Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury, SBAs for the MRCS Part A, 2018
Vivian A. Elwell, Jonathan M. Fishman, Rajat Chowdhury
Oesophageal atresia is a congenital condition affecting 1 in 3000–4500 births. It is a developmental disorder of the oesophagus, which results in the oesophagus ending as a blind-ended pit. Only 10 per cent of those born with this congenital condition are born with this in isolation, with the remainder having some other form of congenital abnormality. Two-thirds of those born with this condition also have a tracheo-oesophageal fistula present. Other associated abnormalities include vertebral anomalies, anorectal anomalies, cardiac, renal, and limb malformations – the so-called VACTERL association. Diagnosis is confirmed by passing a nasogastric tube, which subsequently coils in the lower oesophagus and is visible on chest X-ray. It is considered a surgical emergency.
Prenatal Testing: Responsibility and Reality
Published in The American Journal of Bioethics, 2023
Rosamond Rhodes, Matthew J. Drago
The parents choose to move forward with the pregnancy, accepting the risk. However, after birth, the child has a choking episode and turns blue. The medical staff members attempt to place a feeding tube into the baby’s esophagus to remove excess mucous but cannot advance the tube. A chest x-ray shows that the child has esophageal atresia and abnormal vertebrae, likely due to VACTERL association. A whole genome sequence is sent on the baby and the results do not find a trisomy as prenatally suspected, or any other known pathologic genetic variant. VACTERL association is a nonrandom association of congenital anomalies (vertebral defects, imperforate anus, cardiac defects, trachea-esophageal atresia, renal and limb abnormalities) that do not have a clearly understood genetic origin (Solomon 2018). Thus, a child can be born with a medical condition that is likely part of an underlying genetic condition, but unforeseeable given current medical science’s ability to determine its exact genetic origin.
Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS
Published in Fetal and Pediatric Pathology, 2021
Christoph Dracopoulos, Michael Gembicki, Jann Lennard Scharf, Amrei Welp, Nadine Berg, Jan Weichert
The clinical presentation of the VACTERL association is heterogeneous and its exact etiology remains largely unexplained. A retrospective analysis of more than 300 VACTERL cases tabulated potential maternal risk factors for a VACTERL association, comprising assisted reproductive techniques (ART), pregestational diabetes and chronic obstructive pulmonary disease [6]. While some studies suggest an increased risk of recurrence in VACTERL-H association due to a possible X-linked inheritance [7,8], VACTERL association occurs sporadically in the vast majority of cases without identifiable genetic causes. There is compelling evidence that the origin of many of these malformations may be attributed to disturbed mesodermal development during embryogenesis [9]. Maldevelopment at this early stage of embryogenesis might in part explain the overlap between VACTERL, VACTERL-H, and MURCS association, as well as the Mayer-Rokitansky-Kuester-Hauser (MRKH) and Klippel-Feil syndromes. A large proportion of these multisystemic lesions can be grouped under the term ‘axial mesodermal dysplasia complex’ (AMDC) [10]. These clinical entities, might differ significantly in terms of intrauterine course and postnatal prognosis. The latter is dictated by the frequent need of comprehensive surgical treatment, mostly immediately after delivery, which underscores the importance of an early and precise antenatal diagnostic work-up in multidisciplinary clinical setting.
Systemic medications used in treatment of common dermatological conditions: safety profile with respect to pregnancy, breast feeding and content in seminal fluid
Published in Journal of Dermatological Treatment, 2019
Sarah Madeline Brown, Khadija Aljefri, Rachel Waas, Philip Hampton
A report using the (Food and Drug Administration) FDA adverse drug reaction register highlighted 33 congenital malformations in 22 infants born to mothers who had taken etanercept during their pregnancies. One of these infants had a VACTERL association (89). VACTERL association refers to the nonrandom association of the following birth defects: Vertebral anomalies, Anal atresia, Cardiac defects, TracheoEsophageal fistula or atresia, Renal and Limb abnormalities. It is rare occurring in 1.6/10,000 of live births. In order to be diagnosed a child must have three of the six associated congenital abnormalities. Another report using FDA database information described 61 congenital abnormalities in 41 children born to mothers taking a TNF antagonist (22 taking etanercept, 19 taking infliximab). 24 were felt to have abnormalities in keeping with the VACTERL association, although only one child was diagnosed with VACTERL. Congenital anomalies included 11/24 with a heart defect (including congenital heart disease, ventricular septal defect and atrial septal defect) other anomalies included cystic kidney, pulmonary malformation, hypospadias and trisomy 21(92). Higher rates of VACTERL were said to occur with combinations of etanercept and infliximab (93). A review of this report however highlighted that they did not feel that there was any true evidence of teratogenicity or association with the VACTERL association and instead felt that many of the reported anomalies are commonly occurring ones (such as ventricular septal defects) and also highlighted that the FDA database has selection bias (only cases with adverse outcomes are reported) (90).