6 YEARS EXPERIENCE WITH RAPID KARYOTYPING IN PRENATAL-DIAGNOSIS - CORRELATIONS BETWEEN PHENOTYPE DETECTED BY ULTRASOUND AND FETAL KARYOTYPE

From September 1985 to March 1992, 804 amniotic fluid samples from 64 different diagnostic centres of the Federal Republic of Germany were s ent to our laboratory exclusively for rapid karyotyping. The average t ime needed for notification of the analysed karpotype was 4.65 days wh en the 'pipette method' was used for chromosome harvesting and 5.97 da ys when the 'in situ' technique was used. The overall incidence of chr omosome aberrations was 15.3 per cent. Data are presented about the li kelihood of abnormal ultrasound findings being caused by chromosome ab errations. These findings include polyhydramnios, oligohydramnios, gro wth retardation, fetal effusions, neural tube defects, craniofacial de fects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects. In future, such data need to contain larger numbers of cases for each week of gestati on. This will improve the risk evaluation for each case with abnormal ultrasound findings, which should lead to better management during pre gnancy, delivery, and postnatal care for those who require rapid karyo typing.