Amniotic fluid interphase fluorescence in situ hybridization (FISH) for detection of aneuploidy; experiences in 130 prenatal cases.
The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, 21, and sex chromosomes X and Y. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. We retrospectively reviewed 130 amniotic fluid interphase FISH analyses from January 1997 to December 2001. The review was done in order to assess the role of interphase FISH among the patients who were at the risk of fetal aneuploidies. The sample was considered to be aneuploid when 70% of or more than the total number of hybridized nuclei displayed the same abnormal hybridization pattern for a specific probe. All of 130 cases but one met the criteria. The results were considered as informative and they were obtained in 24-48 hr. The overall detection rate for aneuploidies was 100% (2 cases of trisomy 21, 2 cases of trisomy 18, and 1 case of Turner syndrome). In comparison to cytogenetics, the rates of both sensitivity and specificity were 100%. The experiment demonstrates that FISH can provide a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies. The experiment can also serve as an adjunctive test to help cytogenetics to reduce significant amount of emotional stress of patients and physicians through early decision making process.
Lim
Ha-Jung
HJ
Department of Obstetrics and Gynecology, Samsung Cheil Hospital and Women's Healthcare Center, Sungkyunkwan University, School of Medicine, Choong-gu, Seoul, Korea.
Kim
Yon-Ju
YJ
Yang
Jae-Hyuk
JH
Kim
Eun-Jeong
EJ
Choi
June-Seek
JS
Jung
Sang-Hee
SH
Ahn
Hyun-Kyong
HK
Han
Jung-Yul
JY
Kim
Moon-Young
MY
Choi
Kyu-Hong
KH
Kim
Jin-Mee
JM
Kim
Young-Mi
YM
Park
So-Yeon
SY
Ryu
Hyun-Mee
HM
D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D000782:Aneuploidy; D002877:Chromosomes, Human / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D013997:Time Factors