Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1998-4-1
pubmed:abstractText
Maternal dried whole-blood specimens were collected prospectively from 2010 singleton pregnancies between 9 + 0 and 13 + 4 weeks that included 18 chromosomally abnormal pregnancies (11 Down's syndrome, four trisomy 18, two trisomy 13 and one triploidy). A subset of 744 pregnancies underwent ultrasound nuchal translucency measurement and included seven Down's syndrome, four trisomy 18, two trisomy 13 and one triploidy. Patients were evaluated for risk of Down's syndrome and trisomy 18 based on biochemistry (free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A), nuchal translucency and the combination of both. In prospective biochemical screening, false-positive rates for Down's syndrome and trisomy 18 were 5.1% (66/1297) and 1.9% (25/1297) in women < 35 years of age and 14.2% (99/695) and 1.6% (11/695) in women > or = 35 years of age, respectively. The detection efficiency of aneuploidy was 6/6 (100%) in women < 35 years and 11/12 (92%) in women > or = 35 years. Nuchal translucency measurement alone detected 57% (8/14) of cases of aneuploidy at a 5.8% (42/730) false-positive rate. Modelling with the age distribution of live births, a 5% false-positive rate resulted in Down's syndrome detection efficiency of 61% by biochemistry, 73% by nuchal translucency and 87% by combining both methods. The data in this study demonstrate that combined biochemical and ultrasound evaluation for Down's syndrome and other chromosomal abnormalities in the first trimester of pregnancy yield a detection capability that may exceed that of current second-trimester prenatal screening protocols. The potential for enhanced detection coupled to an earlier alert of fetal complications could represent a substantial advantage to both clinician and patient.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0960-7692
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
381-6
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed-meshheading:9476320-Adolescent, pubmed-meshheading:9476320-Adult, pubmed-meshheading:9476320-Aneuploidy, pubmed-meshheading:9476320-Biological Markers, pubmed-meshheading:9476320-Chorionic Gonadotropin, beta Subunit, Human, pubmed-meshheading:9476320-Down Syndrome, pubmed-meshheading:9476320-False Positive Reactions, pubmed-meshheading:9476320-Female, pubmed-meshheading:9476320-Fetal Diseases, pubmed-meshheading:9476320-Humans, pubmed-meshheading:9476320-Middle Aged, pubmed-meshheading:9476320-Neck, pubmed-meshheading:9476320-Pregnancy, pubmed-meshheading:9476320-Pregnancy Trimester, First, pubmed-meshheading:9476320-Pregnancy-Associated Plasma Protein-A, pubmed-meshheading:9476320-Prospective Studies, pubmed-meshheading:9476320-Reproducibility of Results, pubmed-meshheading:9476320-Sensitivity and Specificity, pubmed-meshheading:9476320-Ultrasonography, Prenatal
pubmed:year
1997
pubmed:articleTitle
First-trimester screening for fetal aneuploidy: biochemistry and nuchal translucency.
pubmed:affiliation
Prenatal Diagnosis Center, Cervello Hospital, Palermo, Italy.
pubmed:publicationType
Journal Article