Dw. Skupski et al., RAPID EXCLUSION OF CHROMOSOMAL ANEUPLOIDIES BY FLUORESCENCE IN-SITU HYBRIDIZATION PRIOR TO FETAL SURGERY FOR OBSTRUCTIVE UROPATHY - A CASE-REPORT, Fetal diagnosis and therapy, 9(5), 1994, pp. 353-356
Ultrasound of a fetus at 17 weeks gestation revealed posterior urethra
l valve syndrome with anhydramnios. Fluorescence in situ hybridization
(FISH) to detect aneuploidies of chromosomes 13, 18, 21, X and Y was
performed on transitional cells from the fetal bladder obtained at per
cutaneous vesicocentesis, followed by conventional cytogenetics. Fetal
urine was chosen due to unavailability of amniotic fluid for karyotyp
ic analysis. A nonlethal (disomic) karyotype was suggested by FISH, an
d thus placement of a vesicoamniotic shunt was performed. The ability
to prognosticate in cases of obstructive uropathy is not absolute, and
fetal surgery for relief of urinary obstruction is best performed at
the earliest possible gestational age. Thus, all available means for r
apidly ruling out lethal congenital anomalies should be undertaken in
cases of obstructive uropathy prior to any decision regarding fetal su
rgery.