Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion
Identifieur interne : 002000 ( Pmc/Curation ); précédent : 001F99; suivant : 002001Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion
Auteurs : Erkan Kalafat ; Mehmet Murat Seval ; Batuhan Turgay ; Acar KoçSource :
- BMJ Case Reports [ 1757-790X ] ; 2015.
Abstract
Cell-free fetal DNA has received significant attention for the purposes of prenatal genetic testing in the past decade. Fetal DNA testing is a new method and promising for many applications such as aneuploidy screening, prenatal diagnosis, prediction of preeclampsia and more. A 37-year-old primigravida, with a pregnancy conceived by intracytoplasmic sperm injection (ICSI), was offered non-invasive prenatal testing (NIPT) due to advanced maternal age. NIPT performed at 23 weeks’ gestation reported a diagnosis of monosomy X. She was offered an amniocentesis, which revealed a euploid fetus with no sex chromosome abnormalities. Even with single nucleotide polymorphism-based NIPT, positive predictive value for detection of sex chromosome abnormalities is around 50%. Positive results of NIPT should be heeded with caution and an invasive diagnostic procedure should be performed, especially for rare chromosomal abnormalities and sex chromosome abnormalities where NIPT performs subpar compared to its performance for detection of trisomy 21.
Url:
DOI: 10.1136/bcr-2014-207309
PubMed: 25631759
PubMed Central: 4322252
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<front><journal-meta><journal-id journal-id-type="nlm-ta">BMJ Case Rep</journal-id><journal-id journal-id-type="iso-abbrev">BMJ Case Rep</journal-id><journal-id journal-id-type="hwp">casereports</journal-id><journal-id journal-id-type="publisher-id">bmjcasereports</journal-id><journal-title-group><journal-title>BMJ Case Reports</journal-title></journal-title-group><issn pub-type="epub">1757-790X</issn><publisher><publisher-name>BMJ Publishing Group</publisher-name><publisher-loc>BMA House, Tavistock Square, London, WC1H 9JR</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25631759</article-id><article-id pub-id-type="pmc">4322252</article-id><article-id pub-id-type="publisher-id">bcr-2014-207309</article-id><article-id pub-id-type="doi">10.1136/bcr-2014-207309</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group><subj-group subj-group-type="hwp-journal-coll"><subject>1521</subject></subj-group><subj-group subj-group-type="case-report-type"><subject>Novel Diagnostic Procedure</subject></subj-group><subj-group subj-group-type="search-fields"><subject>Female</subject><subject>31-50 years</subject><subject>White</subject><subject>Europe (East)</subject></subj-group><series-title>Case Report</series-title></article-categories><title-group><article-title>Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kalafat</surname><given-names>Erkan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Seval</surname><given-names>Mehmet Murat</given-names></name></contrib><contrib contrib-type="author"><name><surname>Turgay</surname><given-names>Batuhan</given-names></name></contrib><contrib contrib-type="author"><name><surname>Koç</surname><given-names>Acar</given-names></name></contrib></contrib-group><aff><addr-line>Department of Obstetrics and Gynecology</addr-line>,<institution>Ankara University School of Medicine</institution>,<addr-line>Ankara</addr-line>,<country>Turkey</country></aff><author-notes><corresp><label>Correspondence to</label> Dr Mehmet Murat Seval, <email>seval@ankara.edu.tr</email></corresp></author-notes><pub-date pub-type="collection"><year>2015</year></pub-date><pub-date pub-type="epub"><day>28</day><month>1</month><year>2015</year></pub-date><volume>2015</volume><elocation-id>bcr2014207309</elocation-id><history><date date-type="accepted"><day>13</day><month>1</month><year>2015</year></date></history><permissions><copyright-statement>2015 BMJ Publishing Group Ltd</copyright-statement><copyright-year>2015</copyright-year></permissions><self-uri xlink:title="pdf" xlink:href="bcr-2014-207309.pdf"></self-uri><abstract><p>Cell-free fetal DNA has received significant attention for the purposes of prenatal genetic testing in the past decade. Fetal DNA testing is a new method and promising for many applications such as aneuploidy screening, prenatal diagnosis, prediction of preeclampsia and more. A 37-year-old primigravida, with a pregnancy conceived by intracytoplasmic sperm injection (ICSI), was offered non-invasive prenatal testing (NIPT) due to advanced maternal age. NIPT performed at 23 weeks’ gestation reported a diagnosis of monosomy X. She was offered an amniocentesis, which revealed a euploid fetus with no sex chromosome abnormalities. Even with single nucleotide polymorphism-based NIPT, positive predictive value for detection of sex chromosome abnormalities is around 50%. Positive results of NIPT should be heeded with caution and an invasive diagnostic procedure should be performed, especially for rare chromosomal abnormalities and sex chromosome abnormalities where NIPT performs subpar compared to its performance for detection of trisomy 21.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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