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Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

by Thorsten, Vanessa R , Pinar, Halit , Wapner, Ronald J , Levy, Brynn , O'Brien, Barbara M , Parker, Corette B , Bukowski, Radek , Willinger, Marian , Varner, Michael W , Dudley, Donald J , Heim-Hall, Josefine , Saade, George R , Stoll, Barbara J , Reddy, Uma M , Goldenberg, Robert L , Drews-Botsch, Carolyn D , Page, Grier P , Silver, Robert M

in Aneuploidy / Biological and medical sciences / Catchment areas / Childrens health / Chromosome Aberrations / Chromosome Disorders - diagnosis / Chromosomes, Human - genetics / Collaboration / Congenital defects / Consent / Consortia / Deoxyribonucleic acid / Diagnosis / DNA / Fetuses / General aspects / Genetic analysis / Genetic screening / Genetic testing / Genetic Testing - methods / Humans / Karyotyping / Laboratories / Medical sciences / Oligonucleotide Array Sequence Analysis / Placenta / Population studies / Pregnancy / Prevention and actions / Public health. Hygiene / Public health. Hygiene-occupational medicine / Sequence Deletion / Single-nucleotide polymorphism / Software / Statistical analysis / Stillbirth / Womens health

2012

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Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

2012

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2012

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Journal Article

Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

Thorsten, Vanessa R,

Pinar, Halit,

Wapner, Ronald J,

Levy, Brynn,

O'Brien, Barbara M,

Parker, Corette B,

Bukowski, Radek,

Willinger, Marian,

Varner, Michael W,

Dudley, Donald J,

Heim-Hall, Josefine,

Saade, George R,

Stoll, Barbara J,

Reddy, Uma M,

Goldenberg, Robert L,

Drews-Botsch, Carolyn D,

Page, Grier P,

Silver, Robert M

2012

Overview

In a large, systematic study of genetic diagnosis in stillborn infants, microarray analysis provided a higher likelihood of obtaining an interpretable result and revealed pathogenic variants in more stillborn infants than did karyotype analysis. Stillbirth, which is defined as fetal death at or after 20 weeks of gestation, occurs in 1 of every 160 births in the United States. 1 Despite extensive evaluation, 25 to 60% of stillbirths remain unexplained. 2 Karyotypic abnormalities are detected in 6 to 13% of stillbirths with a successful karyotype analysis. 3 , 4 Some stillbirths may have chromosomal imbalances below the resolution of conventional cytogenetic analysis, which is typically 5 to 10 Mb. Single-nucleotide polymorphism (SNP) oligonucleotide microarray analysis detects almost all genomic imbalances recognized by karyotyping, as well as smaller deletions and duplications in the kilobase range, termed copy-number variants. Microarray . . .

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Publisher

Massachusetts Medical Society

Subject

Aneuploidy

/ Biological and medical sciences

/ Catchment areas

/ Childrens health

/ Chromosome Aberrations

/ Chromosome Disorders - diagnosis

/ Chromosomes, Human - genetics