Changes in the approach for invasive prenatal diagnosis in 35,127 cases at a single center from 1977 to 2004

To evaluate the changes in the approaches used for invasive prenatal diagnosis for beta-thalassemia and karyotyping at a single center from 1977 to 2004.

For beta-thalassemia, in 1977 placentacentesis, in 1982 amniocentesis, in 1983 fetoscopy and cordocentesis, in 1983 trancervical chorionic villi sampling (TC-CVS), in 1984 cardiocentesis, in 1986 transabdominal CVS, and in 2002 preimplantation genetic diagnosis (PGD) were introduced. For karyotyping, in 1977 amniocentesis, in 1983 cordocentesis and cardiocentesis and TC-CVS, in 1986 TA-CVS and in 1991 hepatic vein sampling were introduced. Rates of approaches used were retrospectively considered, for 5 different groups (1977-1981; 1982-1985; 1986-1993; 1994-1999; 2000-2004).

35,127 invasive prenatal diagnoses were considered, and 42 PGD included. For beta-thalassemia 6,547 diagnoses were performed and 42 PGD. Since 1986-1993, TA-CVS was the only approach used except for 42 PGD in the 2000-2004 group. For karyotyping 28,538 diagnoses were performed. Amniocentesis and TA-CVS have been the most frequently used in the last years, while cordocentesis and hepatic vein sampling have shown a decline after their introduction.

TA-CVS is now the only technique used for beta-thalassemia. For karyotype, amniocentesis and TA-CVS are the most frequently used procedures. Obstetrical and laboratory experience, the availability of screening, and other individual factors, have influenced the choice, towards an earlier approach in pregnancy.