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Defining the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis of aneuploidies
- Source :
- American Journal of Obstetrics and Gynecology. 176:769-776
- Publication Year :
- 1997
- Publisher :
- Elsevier BV, 1997.
-
Abstract
- OBJECTIVE: This study examines the role of fluorescence in situ hybridization on uncultured amniocytes for prenatal diagnosis in a population at high risk for aneuploidies. STUDY DESIGN: All patients undergoing amniocentesis for fetal structural abnormality on ultrasonographic examination (performed from 13 to 39 weeks), abnormal maternal serum aneuploidy screening results, or advanced maternal age with substantial parental anxiety were offered both fluorescence in situ hybridization on uncultured cells and conventional metaphase karyotyping on dividing cells. RESULTS: From 1992 to 1995, 315 patients were studied. Mean time to obtain results was 2.8 days for fluorescence in situ hybridization and 8.3 days for karyotype. Fluorescence in situ hybridization was informative in 254 samples (80.6%), and within this group 21 aneuploidies were correctly identified. Among informative specimens there was 100% sensitivity and specificity, with 100% positive and negative predictive values. Of the 315 samples, 61 (19.4%) were uninformative or unreportable. Of 25 total cases of karyotype-proved aneuploidy, 4 were reported as uninformative by fluorescence in situ hybridization, for a total detection rate of 84%. Overall, amniocenteses performed after 24 weeks were significantly more likely to be uninformative than those performed in the second trimester (45% vs 16%, p = 0.01), peaking at a 56% uninformative rate after 33 weeks. Logistic regression analysis showed an 8% increase in the uninformative rate per week of gestational age (odds ratio 1.08, 95% confidence interval 1.04 to 1.14). CONCLUSIONS: Fluorescence in situ hybridization on uncultured amniocytes is a rapid, clinically useful tool for prenatal diagnosis, with informative specimens being highly accurate. The combination of a structural fetal anomaly and an abnormal fluorescence in situ hybridization result should allow for definitive management decisions. The significant increase in uninformative specimens at later gestational ages limits its usefulness in the third trimester. (Am J Obstet Gynecol 1997;176:769-76.)
- Subjects :
- Adult
medicine.medical_specialty
Pathology
Adolescent
Population
Aneuploidy
Chromosome Disorders
Gestational Age
Prenatal diagnosis
Ultrasonography, Prenatal
Fetus
Pregnancy
Prenatal Diagnosis
medicine
Humans
Advanced maternal age
education
In Situ Hybridization, Fluorescence
Chromosome Aberrations
education.field_of_study
Chi-Square Distribution
medicine.diagnostic_test
Obstetrics
business.industry
Obstetrics and Gynecology
Gestational age
Middle Aged
Amniotic Fluid
medicine.disease
Logistic Models
Karyotyping
Amniocentesis
Female
business
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 00029378
- Volume :
- 176
- Database :
- OpenAIRE
- Journal :
- American Journal of Obstetrics and Gynecology
- Accession number :
- edsair.doi.dedup.....97aa237b664c55d5ec4b98fed14ee130