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


METHODS
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).


RESULTS
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.


CONCLUSIONS
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.
Monni
Giovanni
G
Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis, Fetal Therapy, Ospedale Microcitemico, Cagliari, Italy. prenatalmonni@tiscali.it
Zoppi
Maria A
MA
Axiana
Carolina
C
Ibba
Rosa M
RM
D015193:Chorionic Villi Sampling; D005260:Female; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013997:Time Factors; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics