A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies.

Q2 Medicine

NeoReviews Pub Date : 2024-09-01 DOI:10.1542/neo.25-9-e537

Mishu Mangla, Gayatri Nerakh, Rajendra Prasad Anne, Ariyanachi Kaliappan, Harpreet Kaur, Deepak Singla

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.

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先天性畸形胎儿或新生儿遗传学诊断的实用系统方法》（A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies）。

先天性畸形是围产期、新生儿和婴儿发病率和死亡率的重要原因。造成这些畸形的原因多种多样，从接触致畸原到遗传疾病都有可能。对遗传病的高度怀疑尤为重要，因为遗传诊断有可能在未来的妊娠中复发。基因检测的方法多种多样，每种方法都能在基因诊断中发挥作用。本综述总结了针对先天性异常胎儿或新生儿的实用、系统的方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

NeoReviews Medicine-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.