New genetic testing in prenatal diagnosis

Summary Determining a genetic diagnosis prenatally permits patients to make informed reproductive decisions and to be counseled about possible fetal outcomes. Therefore, it is important for the provider to be aware of the spectrum of genetic conditions and to use appropriate testing modality to obta...

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Bibliographic Details
Published in:Seminars in fetal & neonatal medicine 2014-06, Vol.19 (3), p.214-219
Main Authors: Babkina, Natalia, Graham, John M
Format: Article
Language:English
Subjects:
Chromosomal microarray
Counseling
Exome sequencing
Female
Genetic Testing - methods
Humans
Maternal Age
Neonatal and Perinatal Medicine
Next-generation sequencing
Non-invasive prenatal screening
Pregnancy
Preimplantation genetic testing
Prenatal Diagnosis - methods
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Summary:Summary Determining a genetic diagnosis prenatally permits patients to make informed reproductive decisions and to be counseled about possible fetal outcomes. Therefore, it is important for the provider to be aware of the spectrum of genetic conditions and to use appropriate testing modality to obtain specific diagnosis. This article reviews genetic techniques available for prenatal diagnosis such as preimplantation genetic testing, chromosomal microarray, non-invasive prenatal screening, and next-generation sequencing. Chromosomal microarray has emerged as the first diagnostic test for evaluation of multiple congenital anomalies and developmental delay as most of the next-generation sequencing methods do not detect copy-number variants (CNVs). Exome sequencing and whole genome sequencing are time-consuming, so if this needs to be done to obtain an accurate genetic diagnosis, allow sufficient time.
ISSN:1744-165X
1878-0946
DOI:10.1016/j.siny.2013.10.005