Korean J Obstet Gynecol.  2002 Jun;45(6):1016-1025.

Clinical Usefulness of Fluorescence in Situ Hybridization (FISH) in the Diagnosis of Genetic disease

• Yang YH
• Kang JY
• Yang ES
• Jang SY
• Cho JS
• Park YW
• Kim IK
• Kim SK
• Nam MS

Abstract

INTRODUCTION: The traditional cytogenetic analysis requires relatively long cell culture time, intensive labour and trained personnel. But, in clinical situations, rapid diagnosis of genetic disease is very important for urgent decision for future management. So we need more rapid and precise diagnostic tools for clinical genetic counselling. The fluorescence in situ hybridization (FISH) has been studied for detecting chromosomal aneuploidies because this method can get rapid and precise results of cytogenetic studies.
OBJECTIVE
To evaluate the clinical utility of fluorescence in situ hybridization technique as a diagnostic tool of chromosomal anomaly.
METHODS
Peripheral blood or gonadal tissue were obtained from the patients (n=63) clinically suspicious of genetic disease. Chorionic villi (n=6), amniotic fluid (n=9), and fetal cord blood (n=2) were obtained from 15 pregnancies undergoing fetal karyotyping at 9 to 30 weeks of gestation for prenatal genetic counselling. Karyotyping was performed by both traditional cytogenetics and FISH, using commercially available kits. After the procedures, the results of FISH were compared with the results of traditional cytogenetic studies.
RESULTS
In a blind series of 17 samples all, including trisomy 21 (1 case), trisomy 18 (1 case), monosomyX (1 case), 47,XYY (1 case), and 47,XXY (1 case), were correctly identified. FISH results were correspondent with conventional karyotyping results in 7 patients with intersex except one case of suspicious of mosaicism. In nine children of Turner syndrome, the results of two methods were correspondent too. There was a fluorescent signal defect in band 15 q11-q13 in one of chromosome 15 in 18 children of 29 patients, clinically suspicious of Prader-Willi syndrome, with FISH method and only four patients were diagnosed as Prader-Willi syndrome with G-banding microscope. It was impossible to identify the defect in chromosome 15 q11-q13 in 10 (34%) children by both methods. Two children of 11 patients, clinically suspicious of Angelman syndrome, were diagnosed as Angelman syndrome with both method respectively. And four children were diagnosed as Angelman syndrome only with FISH method. In 5 cases, we cannot detect the defect in chromosome 15 q11-q13 with both methods. In four cases of Williams syndrome, the results of both methods were as follows; 1 case (25%): diagnosed as Williams syndrome by both methods; 2 cases (50%): diagnosed

MeSH Terms

Amniotic Fluid
Aneuploidy
Angelman Syndrome
Cell Culture Techniques
Child
Chorionic Villi
Chromosomes, Human, Pair 15
Cytogenetic Analysis
Cytogenetics
Diagnosis*
Down Syndrome
Female
Fetal Blood
Fluorescence*
Gonads
Humans
In Situ Hybridization*
Karyotyping
Mosaicism
Prader-Willi Syndrome
Pregnancy
Trisomy
Turner Syndrome
Williams Syndrome