First-trimester prenatal diagnosis of Roberts syndrome.
We present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.
Stioui
S
S
Laboratorio di Citogenetica, Instituti Clinici di Perfezionamento, Milano, Italy.
Privitera
O
O
Brambati
B
B
Zuliani
G
G
Lalatta
F
F
Simoni
G
G
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002503:Centromere / Q000502:physiology; D015193:Chorionic Villi Sampling / Q000379:methods*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012008:Recurrence; D013577:Syndrome