{"title":"A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies.","authors":"Mishu Mangla, Gayatri Nerakh, Rajendra Prasad Anne, Ariyanachi Kaliappan, Harpreet Kaur, Deepak Singla","doi":"10.1542/neo.25-9-e537","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital anomalies contribute significantly to perinatal, neonatal, and infant morbidity and mortality. The causes of these anomalies vary, ranging from teratogen exposure to genetic disorders. A high suspicion for a genetic condition is especially important because a genetic diagnosis carries a risk of recurrence in future pregnancies. Various methods are available for genetic testing, and each plays a role in establishing a genetic diagnosis. This review summarizes a practical, systematic approach to a fetus or neonate with congenital anomalies.</p>","PeriodicalId":19465,"journal":{"name":"NeoReviews","volume":"25 9","pages":"e537-e550"},"PeriodicalIF":0.0000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"NeoReviews","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1542/neo.25-9-e537","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Congenital anomalies contribute significantly to perinatal, neonatal, and infant morbidity and mortality. The causes of these anomalies vary, ranging from teratogen exposure to genetic disorders. A high suspicion for a genetic condition is especially important because a genetic diagnosis carries a risk of recurrence in future pregnancies. Various methods are available for genetic testing, and each plays a role in establishing a genetic diagnosis. This review summarizes a practical, systematic approach to a fetus or neonate with congenital anomalies.
NeoReviewsMedicine-Pediatrics, Perinatology and Child Health
CiteScore
2.20
自引率
0.00%
发文量
110
期刊介绍：
Co-edited by Alistair G.S. Philip, MD, FAAP, and William W. Hay Jr., MD, FAAP, NeoReviews each month delivers 3 to 4 clinical reviews, case discussions, basic science insights and "on the horizon" pieces. Written and edited by experts, these concise reviews are available to NeoReviews subscribers at http://neoreviews.aappublications.org. Since January 2009, all clinical articles have been mapped to the American Board of Pediatrics (ABP) content specifications in neonatology.
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