A fetal thyroid goiter detected by ultrasonography at 20 weeks of amenorrhea (WA) was diagnosed at 23 WA by a second ultrasound examination and a TSH assay in amniotic fluid. Since a sample of fetal blood at 27 WA showed that hypothyroidism was compensated and that goiter size and amniotic fluid volume were stable, intra-amniotic injection of 300 μg of L-thyroxine was delayed until 36 WA. This injection was performed before delivery to avoid potential perinatal complications (dystocia and neonatal respiratory distress) caused by large goiters.

We present two prenatal cases of trisomy 9 mosaicism, both of which presented intrauterine growth retardation (IUGR) and other abnormal ultrasound findings. In case A, mosaicism was found in amniotic fluid cell cultures, of which 65 per cent were trisomic cells, on average. In case B, trisomic cells were present in amniotic fluid cell cultures (12 per cent) but none were found in fetal cord blood. After autopsy, cytogenetic findings were confirmed in different tissue cultures. It is concluded that echographic indicators are a very useful tool for a correct prenatal diagnostic interpretation of trisomy 9. Suspected trisomy 9 mosaicism always requires further investigation and fetal cord blood cytogenetic analysis may not be considered as providing an accurate diagnosis of fetal trisomy 9.

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A pregnancy was terminated at 24 weeks of amenorrhea when tetraploidy (92 XXXX) was diagnosed in fetal blood subsequent to ultrasonographic detection of a polymalformation syndrome. The severity of the neurological deficit in tetra-ploid infants and their death befor 2 years of age require that prenatal diagnosis by cordocentesis be performed for analysis of fetal blood in cases of equivocal and nonspecific polymalformation syndrome and justify that medically-induced termination of pregnancy is suggested in the event of intrauterine tetraploidy diagnosis.

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