Genetic Counseling and Diagnostics in Anorectal Malformation

Anorectal malformation (ARM) is a relatively frequently occurring congenital anomaly of hindgut development with a prevalence of 1 in 3,000 live births. ARM may present as an isolated anomaly, but it can also be associated with other anomalies, sometimes as part of a recognizable syndrome. After birth, much medical attention is given to the treatment and restoring of bowel function in children with ARM. Effort should also be given to studying the etiology of the ARM in these patients. This information is important to both the medical community and the family, because it can help guide treatment and provides information on the long-term prognosis of the patient and recurrence risk in the family.In this article, we will review the current knowledge on the (genetic) etiology of (syndromic) ARM and provide guidelines for (family) history taking and clinical and genetic studies of ARM patients and their families, which is needed to study the causal factors in an ARM patient and for genetic counseling of the families.

Place & Person involved in delivery: Factors leading to delay in diagnosis of Anorectal Malformation in Newborns

Objective: To determine the frequency of place of delivery and person detecting the anomaly among newborn babies presenting with delayed diagnosis of anorectal malformation (ARM). Methods: This is a Descriptive Cross-Sectional Study, conducted at Department of Paediatric Surgery, National Institute of Child Health (NICH) Karachi, from February 19, 2019 to August 18, 2019. All patients with ARM who were diagnosed beyond two hours of life (Delayed diagnosis) were included in the study. Chi square test was applied for comparison of categorical variables. Results: Total 110 patients were enrolled in this study. Nineteen (17.3%) patients were delivered at home, while 91 (82.7%) were delivered at the hospital. The first person detecting the anomaly was grandmother (n=25) or a non-medical person in 58 patients (52.7%), 52 were diagnosed by a medical personal either primarily in 31 cases (28.2%) or secondarily by a neonatologist in 21 cases (19.1%). Conclusion: It is concluded that Non-medical person detected ARM mainly despite the babies being delivered mostly at the hospital, indicating the need for meticulous neonatal examination. doi: https://doi.org/10.12669/pjms.38.1.4156 How to cite this:Perveen S, Ali S, Jabbar A, Fatima B. Place & Person involved in delivery: Factors leading to delay in diagnosis of Anorectal Malformation in Newborns. Pak J Med Sci. 2022;38(1):---------. doi: https://doi.org/10.12669/pjms.38.1.4156 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Aphallia Associated with Anorectal Malformation

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