Genetic diagnosis from formalin-fixed fetal tissue using FISH: a new tool for genetic counseling in subsequent pregnancies.
We evaluated the feasibility of retrospective genetic testing for numerical chromosomal aberrations by applying the FISH technique to formalin-fixed fetal tissue. Fetal tissue from 10 old cases with known aneuploidy and from 13 cases with known fetal malformations, were tested with specific DNA probes for pericentromeric repeat regions of chromosomes 13/21, 18, X and Y. FISH diagnosis concurred with karyotype in all nine cases with sufficient cells. Numerical aberration was diagnosed in six out of 13 cases with fetal malformations.
Fejgin
M D
MD
Department of Obstetrics and Gynecology, Meir General Hospital, Sapir Medical Center, Kfar Saba, Israel.
Kidron
D
D
Kedar
I
I
Gaber
E
E
Tepper
R
R
Beyth
Y
Y
Amiel
A
A
D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005240:Feasibility Studies; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005557:Formaldehyde; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016612:Paraffin Embedding; D011247:Pregnancy; D012189:Retrospective Studies; D016707:Tissue Fixation
D005557:Formaldehyde