Introduction of early amniocentesis to routine prenatal diagnosis.
With growing awareness of the problems associated with prenatal cytogenetic diagnoses after CVS, attempts have been made to provide early amniocentesis as an alternative to CVS. Since 1990, at our clinic the gestational age limit for routine diagnostic amniocentesis has been successively lowered, first to 14 and then to 13 weeks of gestation. Thus, 811 prenatal diagnoses were performed after early amniocentesis at 13 weeks (n = 217) and at 14 weeks of gestation (n = 594). No problems were encountered. Culture failure was never observed in the early samples. Using the criteria 'number of colonies' and 'culture duration until harvest', early samples taken at 14 weeks did not differ significantly from the controls after standard amniocentesis performed at 15 and 16 weeks, respectively, whereas a minority of samples taken at 13 weeks experienced some delay in culturing. However, in each group at least 85 per cent of samples led to a diagnosis fulfilling our standard criteria of a safe diagnosis (at least 20 metaphases of at least five colonies from at least one primary culture after trypsinization) within 15 days. Some differences between the different groups can be recognized: culture duration of less than 11 days tends to be increasing after standard amniocentesis, whereas long culture duration (more than 20 days) is more often associated with early amniocentesis. However, this trend is only minimal and did not result in an increased risk of missing a diagnosis.
Djalali
M
M
Abteilung Klinische Genetik der Universität, Ulm, Germany.
Barbi
G
G
Kennerknecht
I
I
Terinde
R
R
D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second