4.9g Limb Deficiency: Longitudinal Postaxial.4.9f Limb Deficiency): Longitudinal Postaxial (Fibula, Ulna, Fifth Ray).4.9e Limb Deficiency: Longitudinal Preaxial (Tibia, Radius, First Ray).4.9d Limb Deficiency: Transverse Intercalary.4.9b Congenital malformations and deformations of the musculoskeletal system: Limb reduction defects/limb deficiencies.4.9a Congenital malformations and deformations of the musculoskeletal system: Talipes Equinovarus.4.8 Congenital Malformations of Genital Organs.4.7 Congenital malformations of the digestive system.4.5a Overview Congenital heart defects: Prenatal diagnosis and postnatal confirmation.4.4 Congenital Malformations of the Ear.4.3 Congenital anomalies of the nervous system: Microcephaly.4.2 Congenital Malformations of the Nervous System: Neural tube defects.4.1 Lists of selected external and internal congenital anomalies to consider for monitoring.Diagnosing and Coding Congenital Anomalies plus icon 3.9 Potential inclusion/exclusion criteria.3.5 Description formats for congenital anomalies.1.2 Purpose of congenital anomalies surveillance.Surveillance of Congenital Anomalies plus icon chromosomal studies, genomic microarray, etc.). Report any genetic testing and results (e.g. a paediatric cardiologist or geneticist). Report whether specialty consultation(s) was done (e.g. Look for and document extracardiac birth defects: IAA can occur with genetic syndromes such as deletion 22q11, which is associated with many external and internal anomalies. catheterization, MRI), surgery, or autopsy. Procedure – specify whether the cardiac findings are from a prenatal or postnatal echocardiogram, or from other investigations (e.g.Anatomy – specify site of discontinuity, type of IAA as noted in echocardiographic report, and intracardiac anomalies, including the presence of ventricular septal defects.Checklist for high-quality reporting Checklist for high-quality reporting Interrupted Aortic Arch (IAA) – Documentation Checklistĭescribe in detail the clinical and echocardiographic findings: Other syndromes that can occur with IAA include CHARGE syndrome (Q30.01). For example, deletion 22q11 occurs in 50% or more of cases of type B IAA, and is rare in the other types. The three types of IAA differ in their association with genetic risk factors. Ventricular septal defect and other intracardiac defects are often present. In type A, the difference in saturation is between upper and lower limbs (the latter being lower) in type B, it is between the left and right arm (lower saturation in the left). Because of right-to-left shunting at the ductus arteriosus, infants may initially show differential oxygen saturation or cyanosis. Clinical and epidemiologic notesĪs noted, early presentation is one of heart failure and cardiogenic shock, with rapid clinical deterioration as the ductus closes. Newborn screening via pulse oximetry can lead to earlier diagnosis. Infants can present clinically in the early neonatal period, when the ductus closes, with signs and symptoms of congestive heart failure and systemic hypoperfusion (cardiogenic shock). Whereas in expert hands fetal echocardiography can provide a firm diagnosis, prenatally diagnosed cases should be confirmed postnatally. IAA is easily missed on the obstetric anomaly scan, though it might be suspected based on discrepancy between the left and right ventricular sizes.
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