Current Genetic Testing Tools in Neonatal Medicine

被引：13

作者：

Lalani, Seema R. ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, R806,One Baylor Plaza, Houston, TX 77030 USA

来源：

PEDIATRICS AND NEONATOLOGY | 2017年 / 58卷 / 02期

关键词：

chromosomal microarray analysis; genetic diseases; neonatal medicine; whole exome sequencing; TURNER SYNDROME; MONOSOMY; 1P36; MICROARRAY; ANOMALIES; DIAGNOSIS; GENOMICS; CHILDREN; DEFECTS; DISEASE; HEALTH;

D O I：

10.1016/j.pedneo.2016.07.002

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates. Next-generation sequencing is increasingly being used for noninvasive prenatal diagnosis, and it may become an essential component of newborn screening. This review will define some basic genetic terms and concepts, explain the gamut of genetic testing available for early diagnosis of genetic diseases, and describe some common chromosomal abnormalities, genomic disorders, and single-gene diseases relevant to neonatal medicine. Copyright (C) 2016, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC.

引用

页码：111 / 121

页数：11

共 52 条

[1]

ACMG Board of Directors, 2013, Genet Med, V15, P748, DOI 10.1038/gim.2013.94

[2] Molecular bases and clinical spectrum of early infantile epileptic encephalopathies [J].

Asher, Y. Jane Tavyev ;

Scaglia, Fernando .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (05) :299-306

[3]

BAIRD PA, 1988, AM J HUM GENET, V42, P677

[4] Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing [J].

Bhattacharjee, Arindam ;

Sokolsky, Tanya ;

Wyman, Stacia K. ;

Reese, Martin G. ;

Puffenberger, Erik ;

Strauss, Kevin ;

Morton, Holmes ;

Parad, Richard B. ;

Naylor, Edwin W. .

GENETICS IN MEDICINE, 2015, 17 (05) :337-347

[5] Clinical implementation of NIPT - technical and biological challenges [J].

Brady, P. ;

Brison, N. ;

Van Den Bogaert, K. ;

de Ravel, T. ;

Peeters, H. ;

Van Esch, H. ;

Devriendt, K. ;

Legius, E. ;

Vermeesch, J. R. .

CLINICAL GENETICS, 2016, 89 (05) :523-530

[6] Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects [J].

Breckpot, J. ;

Thienpont, B. ;

Arens, Y. ;

Tranchevent, L. C. ;

Vermeesch, J. R. ;

Moreau, Y. ;

Gewillig, M. ;

Devriendt, K. .

CYTOGENETIC AND GENOME RESEARCH, 2011, 135 (3-4) :251-259

[7] Preimplantation genetic testing [J].

Brezina, Paul R. ;

Brezina, Dawn S. ;

Kearns, William G. .

BMJ-BRITISH MEDICAL JOURNAL, 2012, 345

[8] Clinical Report-Health Supervision for Children With Down Syndrome [J].

Bull, Marilyn J. .

PEDIATRICS, 2011, 128 (02) :393-406

[9]

CASSIDY SB, 1992, AM J HUM GENET, V51, P701

[10] The trisomy 18 syndrome [J].

Cereda, Anna ;

Carey, John C. .

ORPHANET JOURNAL OF RARE DISEASES, 2012, 7

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