Fetal anomalies: what is the diagnosis when the chromosomes are normal?

A retrospective study of cases of fetal anomalies associated with a normal karyotype was conducted (1) to evaluate the accuracy of prenatal diagnosis; and (2) to assess two different tools to assist in determining the correct diagnosis. A total of 201 charts were reviewed. The accuracy of the prenat...

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Bibliographic Details
Published in:Ultrasound in obstetrics & gynecology 1997-10, Vol.10 (4), p.254-260
Main Authors: Gagnon, A. L., Wilson, R. D.
Format: Article
Language:English
Subjects:
Chromosome Aberrations
Chromosome Disorders
Congenital Abnormalities - diagnosis
Congenital Abnormalities - epidemiology
Congenital Abnormalities - genetics
Databases, Factual
Diagnosis, Computer-Assisted
Diagnosis, Differential
Differential Diagnosis
Female
Fetal Anomalies
Humans
Infant, Newborn
Karyotyping
Pregnancy
Prenatal Diagnosis
Registries
Reproducibility of Results
Retrospective Studies
Ultrasonography, Prenatal
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Summary:A retrospective study of cases of fetal anomalies associated with a normal karyotype was conducted (1) to evaluate the accuracy of prenatal diagnosis; and (2) to assess two different tools to assist in determining the correct diagnosis. A total of 201 charts were reviewed. The accuracy of the prenatal diagnosis was assessed subjectively by one physician. The London Dysmorphology Database and a locally developed non‐computerized tool (Appendix) were assessed retrospectively using 36 test cases. The population studied presented a spectrum of 97 different groups of single (67%) or multiple (33 %) anomalies. The prenatal diagnosis was accurate in 57% of the cases. The two proposed tools generated an average of 146 and 15 different diagnoses, respectively and the correct one in 26 and 22 of the 36 test cases. The two studied tools have the potential to generate a differential diagnosis in the presence of a fetal anomaly prior to and following normal karyotype analysis. The non‐computerized tool presents the advantages of listing antenatal features and creating a shorter differential diagnosis list with a minimal decrease in the identification rate of the correct diagnosis. Its use should be studied prospectively. Copyright © 1997 International Society of Ultrasound in Obstetrics and Gynecology
ISSN:0960-7692
1469-0705
DOI:10.1046/j.1469-0705.1997.10040254.x