Korean J Obstet Gynecol.  1999 Jan;42(1):72-79.

Clinical use cytogenetic karyotyping , fluorescence in situ hybridization , and primed in situ labelling in prenatal diagnosis

• Kim YJ
• Woo BH
• Yang HJ
• Park MY
• Lee YH
• Ahn JJ

Abstract

OBJECTIVE
Increasingly it is being recognized that genetic factors play a significant role in causing malformation. There are many available prenatal diagnostic methods including cytogenetic karyotyping using amniocentesis and cordocentesis, fluorescence in situ hybridization(FISH), and primed in situ labelling(PRINS). Our purpose was to attempt to discuss the clinical use of cytogenetic karyotyping, FISH, and PRINS.
METHODS
We conducted 222 cases of cytogenetic karyotyping using amniocentesis and cordocentesis, l0 cases of FISH, and 10 cases of PRINS from January 1996 to July 1998 at Ewha Womans University Mokdong Hospital. Age distribution, chromosomal abnormalities by age group, indication, karyotype, and baby outcomes were performed.
RESULTS
Overall incidence of chromosomal abnormalities was 7.7%(17cases) and chromosomal abnormalities were most frequently noted in 30-34 year old women and 35-39 year old women(2.3%, respectively). Among 222 cases, 25-29 year old women were highest(30.2%). Chromosomal abnormalities among cytogenetic karyotyping cases were Down syndrome, Edward syndrome, Patau syndrome, Deletion(8), Inversion(9), etc. The 5 cases of healthy baby among chromosomal abnormalities were delevered. Among 213 cases of karyotyping using amniocentesis, abnormal karyotyping cases were 15 cases. Among 15 cases, 8 cases were terminated and 5 cases of healthy baby were delivered. Among 9 cases of karyotyping using cordocentesis, 2 cases of chromosomal abnormalities(Edward, Down syndrome) were found and 3 cases healthy baby were delivered. Among 10 cases of FISH results, 6 case of FISH results were the same with G-banding and were different from G-banding. Among 10 cases of PRINS results, we got the PRINS results from 7 cases.
CONCLUSION
It is concluded that cytogenetic karyotyping, FISH, and PRINS are very useful to detect chromosomal abnormalities.

Keyword

Cytogenetic karyotyping; FISH; PRINS; chromosomal abnormality

MeSH Terms

Age Distribution
Amniocentesis
Chromosome Aberrations
Cordocentesis
Cytogenetics*
Down Syndrome
Female
Fluorescence*
Humans
In Situ Hybridization*
Incidence
Karyotype
Karyotyping*
Prenatal Diagnosis*
Primed In Situ Labeling