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Fluorescent in situ Hybridization and Second-Trimester Sonographic Anomalies: Uses and Limitations
- Source :
- Fetal Diagnosis and Therapy. 9:367-370
- Publication Year :
- 1994
- Publisher :
- S. Karger AG, 1994.
-
Abstract
- The critical need for rapid and reliable karyotype analysis can be no greater than in the setting of sonographic fetal anomalies. Fluorescent in situ hybridization (FISH) directly applied to interphase chromosomes can decrease the time required to identify the common aneuploidies. Our retrospective study reviewed 50 consecutive patients with sonographic fetal anomalies who underwent FISH. Within this high risk group, nonmosaic chromosomal aneuploidies were present in 16% of the fetuses (8 of 50), and 2 additional fetuses had cytogenetic abnormalities: 1 case, 46,XY,-12,+der(12)t(12;13)(p13; q14.1), and 1 case a 10% mosaic for trisomy 21. Of the 10 cytogenetically abnormal fetuses, FISH was able to identify correctly all 8 of the nonmosaic aneuploidies within 2 days of receipt of the specimen in the laboratory. Clinical decisions can be made on the basis of concordant FISH and ultrasound abnormalities, shortening the decision-making process for most of the aneuploid cases. However, our experience demonstrates some of the limitations of current FISH protocols and the continued necessity for formal karyotype analysis.
- Subjects :
- In situ
Embryology
Pathology
medicine.medical_specialty
Aneuploidy
Gestational Age
Trisomy
Prenatal diagnosis
In situ hybridization
Biology
Translocation, Genetic
Ultrasonography, Prenatal
Pregnancy
Second trimester
medicine
Humans
Radiology, Nuclear Medicine and imaging
In Situ Hybridization, Fluorescence
Retrospective Studies
Chromosome Aberrations
Chromosomes, Human, Pair 13
Medical screening
food and beverages
Obstetrics and Gynecology
General Medicine
medicine.disease
Fluorescence
Karyotyping
Pregnancy Trimester, Second
Pediatrics, Perinatology and Child Health
Amniocentesis
Fish
Female
Down Syndrome
Subjects
Details
- ISSN :
- 14219964 and 10153837
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Fetal Diagnosis and Therapy
- Accession number :
- edsair.doi.dedup.....10c061915cfb30a6721ac7eaf795ff63