Abstract:
:Objective To assess the additive value of prenatal chromosomal microarray analysis (CMA) for all indications and the likelihood of detecting pathologic copy number variations (CNVs) based on specific indications. Methods A retrospective analysis was performed on amniocentesis and chorionic villi sampling results obtained between 2010 and 2014 in a single institution. A total of 3,314 consecutive patients undergoing invasive genetic testing for different indications were offered CMA in addition to standard karyotype. The prevalence of pathologic CNVs was compared between patients with low-risk indications and those with high-risk indications. Likewise, the prevalence of pathologic CNVs among patients with different sonographic abnormalities was calculated and compared with the low-risk group. Chi-square and Fisher exact tests were used for statistical analysis. Results The prevalence of pathologic CNVs was significantly higher in patients with high-risk indications and specifically those with sonographic abnormalities, compared with the low-risk group (2.8 and 5.9% vs. 0.4%, respectively; all p < 0.05). Conclusion Prenatal CMA detected clinically relevant CNVs in fetuses with a normal karyotype. Major structural malformations and nuchal translucency (NT) ≥ 3.0 mm are associated with the highest risk for a CMA abnormality. Nevertheless, the prevalence of pathologic CNVs in the low-risk population was high enough (1:250) to consider genetic counseling in this group.
journal_name
Am J Perinatoljournal_title
American journal of perinatologyauthors
Bornstein E,Berger S,Cheung SW,Maliszewski KT,Patel A,Pursley AN,Lenchner E,Bacino C,Beaudet AL,Divon MYdoi
10.1055/s-0036-1586501subject
Has Abstractpub_date
2017-03-01 00:00:00pages
340-348issue
4eissn
0735-1631issn
1098-8785journal_volume
34pub_type
杂志文章abstract::We compared lymphocyte subsets and cytokine responses to bacteria among term, preterm infants, and adults. Lymphocyte subset percentages in cord blood (22 preterm, 27 term neonates) and peripheral blood from 21 adults and cytokine/chemokine interleukin (IL)-6, IL-8, IL-10, IL-12, interferon gamma (IFN gamma) responses...
journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0029-1220788
更新日期:2009-10-01 00:00:00
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journal_title:American journal of perinatology
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doi:10.1055/s-0036-1586120
更新日期:2017-02-01 00:00:00
abstract:OBJECTIVE:The aim of the study is to conduct an initial pilot trial evaluating the feasibility, safety, and efficacy of bupropion for smoking cessation in pregnancy. STUDY DESIGN:A randomized, double-blind, parallel-group pilot study of bupropion versus placebo with 50 pregnant smokers was planned. Eligibility criteri...
journal_title:American journal of perinatology
pub_type: 杂志文章,随机对照试验
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更新日期:2015-03-01 00:00:00
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journal_title:American journal of perinatology
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0032-1324701
更新日期:2013-05-01 00:00:00
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journal_title:American journal of perinatology
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journal_title:American journal of perinatology
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journal_title:American journal of perinatology
pub_type: 杂志文章
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更新日期:1992-09-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究
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journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究
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更新日期:2001-09-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
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更新日期:2010-09-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2016-01-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
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更新日期:2012-05-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-993854
更新日期:1999-01-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0039-1696640
更新日期:2021-01-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0031-1285827
更新日期:2012-04-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
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journal_title:American journal of perinatology
pub_type: 杂志文章
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更新日期:2005-08-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章,评审
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更新日期:2009-11-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2020-03-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999785
更新日期:1987-07-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-999893
更新日期:1986-10-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0040-1716492
更新日期:2020-09-11 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-0032-1321501
更新日期:2013-01-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2008-1040751
更新日期:1994-05-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
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更新日期:2015-02-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
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更新日期:1989-10-01 00:00:00
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journal_title:American journal of perinatology
pub_type: 杂志文章
doi:10.1055/s-2007-994691
更新日期:1993-01-01 00:00:00
abstract::We tabulated the incidence of necrotizing enterocolitis (NEC) during a recent 4-year period among three neonatal intensive care units (NICUs) within a single health-care system. We then sought associations to explain differences in NEC incidence between the centers. Between January 1, 2002, and December 31, 2005, 6787...
journal_title:American journal of perinatology
pub_type: 杂志文章,多中心研究
doi:10.1055/s-2007-995220
更新日期:2008-01-01 00:00:00