Abstract:
:New diagnostic techniques employed in laboratories all over the world enable to create new tests for prenatal genetic diagnosis. They include cytogenetics, molecular-cytogenetics and molecular methods. Chromosomal numerical aberrations (aneuploidies) remain to be the most frequent genetic changes diagnosed prenatally Therefore, our paper presents the latest methods used mainly in prenatal diagnosis of the most common chromosome numerical changes, as well as other methods applicable in detecting chromosome structural changes or gene mutations. One of the main advantages of these new approaches is the short period of time needed to obtain a result. Some of these techniques are used world-wide: QF-PCR (Fluorescence Quantitive Polymerase Chain Reaction)--based on the analysis of the short polymorphic sequences characteristic for each individual; MLPA (Multiplex Ligation-dependent Probe Amplification)--based on the probes ligation to complementary genomic fragments in patient DNA; microarray CGH (Comparative Genomic Hybridization)--based on genomic hybridization to microarray, which enables analysis of the entire genome. Other new methods are also gradually introduced to invasive prenatal diagnosis: NGS (Next-generation DNA sequencing)--for the analysis of the whole genome at the DNA level; BoBs (BACS-on-Beads)--molecular-cytogenetic technique based on hybridization of probes immobilized on polystyrene microspheres with fetal DNA. Nowadays, rapid diagnosis of the most common chromosomal aneuploidies is not a standard procedure in Poland, as opposed to cytogenetics (karyotyping). However, for specific clinical indications, fast and reliable methods of genetic analysis present are likely to become standard procedures in prenatal diagnosis.
journal_name
Ginekol Poljournal_title
Ginekologia polskaauthors
Łaczmańska I,Stembalska Asubject
Has Abstractpub_date
2013-10-01 00:00:00pages
871-6issue
10eissn
0017-0011issn
2543-6767journal_volume
84pub_type
杂志文章,评审abstract::Retrospective analysis of ultrasonographic examinations in 81 women who delivered newborns with congenital malformations was performed. Totally 147 anatomical defects in 83 newborns were found. 85 of 147 abnormalities (57.8%) were detected prenatally, most commonly (79.6%) in the third-trimester. All cases of covering...
journal_title:Ginekologia polska
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journal_title:Ginekologia polska
pub_type: 杂志文章
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更新日期:1993-10-01 00:00:00
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journal_title:Ginekologia polska
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更新日期:2005-11-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
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更新日期:2003-07-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
doi:
更新日期:2005-01-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:10.17772/gp/1675
更新日期:2013-12-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
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更新日期:2015-02-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:1993-12-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
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更新日期:2013-09-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
doi:
更新日期:2011-05-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:10.17772/gp/57823
更新日期:2015-07-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
doi:
更新日期:2008-11-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2003-10-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2004-07-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2000-06-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2003-09-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,随机对照试验
doi:10.5603/GP.2019.0007
更新日期:2019-01-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:10.5603/GP.2016.0092
更新日期:2016-01-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:1983-10-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:10.5603/GP.a2018.0039
更新日期:2018-01-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2006-12-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
doi:
更新日期:2015-04-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章,评审
doi:
更新日期:2003-11-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 临床试验,杂志文章
doi:
更新日期:2001-03-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2010-08-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:1994-07-01 00:00:00
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journal_title:Ginekologia polska
pub_type: 杂志文章
doi:
更新日期:2003-09-01 00:00:00