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First‐trimester prenatal diagnosis of Roberts syndrome
Author(s) -
Stioui S.,
Privitera O.,
Brambati B.,
Zuliani G.,
Lalatta F.,
Simoni G.
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120211
Subject(s) - prenatal diagnosis , chorionic villi , gestation , obstetrics , fetus , first trimester , chorionic villus sampling , medicine , down syndrome , pregnancy , second trimester , gynecology , biology , genetics , psychiatry
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.