Incidental detection of premature centromere separation in amniocytes associated with a mild form of Roberts syndrome

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Abstract
Premature centromere separation (PCS) was detected in amniocytes after an amniocentesis was done because of markedly elevated maternal serum alpha‐fetoprotein values in a healthy primiparous young woman. PCS has been associated with the Roberts‐SC phocomelia syndrome (RS). By 23 weeks' gestation, ultrasonic evaluations did not reveal abnormal fetal development. The pregnancy continued and a male infant was born with mild manifestations of RS. PCS was confirmed in cord blood lymphocytes. This case illustrates that PCS, when detected in amniotic fluid cell cultures, requires a thorough evaluation.