NDLI: Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.

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Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.

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Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Grati, Francesca Romana Barlocco, Andrea Grimi, Beatrice Milani, Silvia Frascoli, Giuditta Di Meco, Anna Maria Liuti, Rosaria Trotta, Anna Chinetti, Sara Dulcetti, Francesca Ruggeri, Anna Maria De Toffol, Simona Clementi, Maurizio Maggi, Federico Simoni, Giuseppe
Description	Country affiliation: Italy Author Affiliation: Grati FR ( Ricerca e Sviluppo, Citogenetica e Biologia Molecolare, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy. fgrati@tomalab.com)
Abstract	During the past 20 years non-invasive screening tests have been increasingly utilized in prenatal diagnosis (PD) practice. Considerable effort has been exerted by multicenter consortia to evaluate the reliability of non-invasive screening tests in detecting those women with an increased risk of having a pregnancy affected by trisomies 21, 18, and 13, monosomy X, and triploidies. To what extent this group of abnormal karyotypes accounts for the total number of phenotypically relevant fetal chromosome abnormalities has, however, never been investigated. The present report is an attempt aimed to quantify this proportion. A retrospective analysis of a homogeneous survey of 115,128 consecutive invasive prenatal tests was undertaken. All cases were classified in accordance with the indication given for the invasive testing. Cytogenetic results regarding 96,416 karyotype analyses performed because of advanced maternal age (>or=35 years) or gestational anxiety (<35 years) were considered since these are the patients who usually undergo non-invasive screening tests. We calculated the number of cases (T21, T18, T13, 45,X, and triploidy) that would have been detected by prenatal screening on the basis of the published detection rate of the combined-2 test or the quadruple test. Our findings indicate that the chromosomal abnormalities investigated by screening tests represent <50% of the fetal chromosomal abnormalities associated with an abnormal outcome ranging from intermediate-to-severe in women <35 years (45.8% and 39.6% in the first and second trimesters, respectively), and sensitivity >50% in women >or=35 years (65.1% and 61.8%, respectively). To conclude, approximately 50% of the phenotypically relevant abnormal karyotypes cannot be detected by non-invasive prenatal screening tests.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Aberrations Fetus Abnormalities Prenatal Diagnosis Methods Adult False Negative Reactions Female Humans Maternal Age Monosomy Diagnosis Polyploidy Pregnancy Trisomy Evaluation Studies Journal Article
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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