Avtor/Urednik		Debevec, M; Canki-Klain, N
Naslov		Prenatalna diagnostika kromosomskih anomalij v Sloveniji: analiza 1834 primerov
Prevedeni naslov		Prenatal diagnosis of chromosomal anomalies in Slovenia: an analysis of 1834 cases
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 63, št. 2
Leto izdaje		1994
Obseg		str. 61-6
Jezik		slo
Abstrakt		Background. In the last twenty-five years the methods of prenatal diagnosis have shown tremendous technological progress that has contributed to more reliable and earlier detection of even greater number of affected children thus reducing the possibility for these children to be born. Methods. Four major methods of chromosomal analysis have been developed: a) cultivating amniotic fluid cells obtained by amniocentesis; b) cultivating lymphocytes from blood samples obtained by cordocentesis; c) direct technique or short-term culture of chorionic villi, taken by transcervical or transabdominal biopsy in early pregnancy (between 9 and 12 week), and d) advanced chorionic biopsy or placentocentesis after 15 weeks of amenorrhea. Results. Of total 1852 exams (18 repeated samplings were included) 6O/1852 (3.2 per cent) chromosomal anomalies were identifiedy 37/1442 (2.6 per cent) in the group of advanced maternal age (greather th. or eq. 37 years); 1/132 (0.7 per cent) in the group of previous child with chromosomal anomaly; 9/56 (16 per cent) in the group with parental chromosomal rearrangement; 13/68 (19 per cent) within suspected fetuses detected by ultrasound. No anomaly was found in the group of 90 pregnant women with emotional problems. Failure of obtaining the final cytogenetic diagnosis was O.6 per cent (11/1852). In the group of 23 pregnancies at 1:4 risk for cystic fibrosis, three affected fetuses were detected, and one affected baby was born because of a false negative result obtained by microvillar enzyme already analysis. There were 48/1834 (2.6 per cent) fetal losses, of which 26 (1.4 per cent) spontaneous abortions, 20 (1.1 per cent) fetal deaths in utero and 2 (0.1 per cent) still births. Conclusion.(trunc.)
Deskriptorji		PRENATAL DIAGNOSIS CHROMOSOME ABNORMALITIES CHORIONIC VILLI SAMPLING PREGNANCY AMNIOCENTESIS KARYOTYPING