Body stalk anomaly associated with maternal cocaine abuse

A case of body stalk anomaly diagnosed prenatally by ultrasound during the 24th week of pregnancy in a cocaine abusing mother is presented. Accurate visualization of the fetal organs was difficult due to the severe oligohydramnios caused by premature rupture of membranes, probably related to the cocaine use. The sonographic findings were an omphalocoele, fetal attachment to the placenta, kyphoscoliosis, and absence of a floating umbilical cord. The prenatal diagnosis of the syndrome and the possible relationship with cocaine abuse are discussed.     

A rare case of de novo structural rearrangement of X chromosome diagnosed by amniocentesis

A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.