Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi: an adjunct to long-term culture and karyotype.
OBJECTIVE
This series was designed to assess in a pilot study the feasibility of using fluorescence in situ hybridization on chorionic villi.


METHODS
We constructed probes derived from specific subregions of human chromosomes 21, 18, 13, X, and Y that give a single copylike signal when used in conjunction with suppression hybridization.


RESULTS
In a blind series of 47 samples all, including one trisomy 21, were correctly identified. The samples were correctly classified as disomic for five chromosomes.


CONCLUSIONS
The combination of chromosome-specific probe sets composed primarily of cosmid contigs and optimized hybridization and detection allowed accurate chromosome enumeration in uncultured human chorionic villi; these results are consistent with those obtained by traditional cytogenetic analysis and suggest a use for fluorescence in situ hybridization as an adjunct to karyotyping when rapid results are needed.
Evans
M I
MI
Department of Obstetrics and Gynecology, Wayne State University/Hutzel Hospital, Detroit, MI 48201.
Klinger
K W
KW
Isada
N B
NB
Shook
D
D
Holzgreve
W
W
McGuire
N
N
Johnson
M P
MP
D002824:Chorionic Villi / Q000502:physiology*; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009924:Organ Culture Techniques; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D013997:Time Factors