Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture.
Second trimester ultrasound-guided fetal blood sampling and placental biopsy were performed on 10 pregnancies at risk for fra(X)-linked mental retardation (Martin-Bell syndrome). Three cases were diagnosed as affected after cytogenetic analysis of fetal blood and placental cultures. The fra(X)(q27.3) and common fragile sites were shown to be expressed at a lower level in placenta than in fetal blood. Induction methods included methotrexate, 5-fluoro-2-deoxyuridine, and excess thymidine. Excess thymidine may give the best expression of fra(X)(q27.3). Enhancement of fra(X)(q27.3) expression was not shown with caffeine or 5-methoxybenzamide.
McKinley
M J
MJ
Harris Birthright Research Centre for Fetal Medicine, London, England.
Kearney
L U
LU
Nicolaides
K H
KH
Gosden
C M
CM
Webb
T P
TP
Fryns
J P
JP
D015193:Chorionic Villi Sampling; D005069:Evaluation Studies as Topic; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005600:Fragile X Syndrome / Q000175:diagnosis*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D013936:Thymidine
D013936:Thymidine