[Prenatal diagnosis of fetal malformations from the obstetrician's viewpoint]

Abstract

Over a period of 5 1/2 years 685 amniocenteses were carried out for genetic and obstetric indications at the University Department of Obstetrics and Gynaecology Graz. In 39 cases (5.7%) the procedure had to be repeated because of amniocentesis failures, cell culture problems or borderline values for alphafetoprotein (AFP). Chromosome diagnosis was achieved in altogether 99% of cases. There were 14 twin pregnancies. Chromosome aberrations or malformations were found in 25 patients (3.6%). Therapeutic abortion was induced in 21 of these women and in each case the diagnosis was confirmed after termination. One woman had a spontaneous abortion before pathological findings were received and three women decided against therapeutic abortion. Balanced translocation was detected prenatally in 7 cases. 18 pregnancies (2.6%) ended with a miscarriage or missed abortion up to the 28th week of gestation following amniocentesis. This figure must be compared with 56 cases (7.5% of 741 women originally referred for amniocentesis) of miscarriage or missed abortion before amniocentesis could be carried out. Leakage of amniotic fluid following amniocentesis was recorded in 8 women; 7 of these gave birth at term, while one woman had an abortion. No case of maternal injury, bleeding or infection was recorded following amniocentesis. In conclusion, when the risk of giving birth to a malformed child is compared with possible complications following amniocentesis there can be no doubt that this procedure is definitely indicated.