Five hundred cases of amniocentesis without bloody tap.

Five hundred amniocenteses were carried out at midtrimester for prenatal diagnosis. A 22-gauge spinal needle with a stylet was used. The needle was guided by a real-time sector ultrasonograph. A transducer was placed adjacent to the puncture site and the needle tip was observed entering the amniotic cavity. By this technique, a bloody tap was avoided. There were only three (0.6%) spontaneous abortions in this group of 496 patients. Amniocentesis guided by ultrasound is a safe method for the mother and the fetus.

Clinical delineation of trisomy 9 syndrome.

A rare but typical case of trisomy 9 mosaicism is reported. The infant showed the characteristic phenotype of this syndrome: low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart disease, abnormal hands and feet, cryptorchidism, micropenis, and early death. This infant, however, did not have dislocation of joints or microcephaly; the head was larger than normal and had almost a cloverleaf shape.

Gonadoblastoma in a patient with an isodicentric X chromosome.

Although gonadoblastoma is known to be associated with the presence of a Y chromosome, this case report of a 15-year-old patient with gonadal dysgenesis, gonadoblastoma, and an idic(Xq-) chromosome provides evidence for the occurrence of gonadoblastoma even in the absence of a Y chromosome. A review of previous cases reported to have gonadoblastoma in the absence of a Y chromosome revealed that the presence of some breast development was the common denominator among those patients. Therefore, a patient who presents with gonadal dysgenesis with some breast development, but lacks a Y chromosome may observe as close scrutiny as the patient with gonadal dysgenesis in the presence of a Y chromosome.