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）。

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

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引用次数: 0

摘要

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

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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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.

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