Author/Editor		Debevec, M; Canki-Klain, N; Brezigar, A; Blejec, T; Cerar, V
Title		Abnormal pregnancy sonogram and chromosomal anomalies
Type		članek
Source		In: Maček M, Ferguson MA, Špala M, eds. Early fetal diagnosis. Recent progress and public health implication. Prague: Karolinum-Charles University Press,
Publication year		1992
Volume		str. 555-62
Language		eng
Abstract		From February 10, 1986 to February 20, 1990 forty prenatal chromosomal analyses were performed after ultrasound diagnosis of fetal abnormalities, fetal growth retardation and/or amniotic fluid disorders. Material for chromosome examination was obtained by chorionic villi biopsy (18 cases), cordocentesis (15 cases) and amniocentesis (7 cases). Duration of pregnancies ranged from 17 to 38 postmenstrual weeks. In the group of 18 transabdominal chorionic villi biopsies three abnormal karyotypes (trisomy 18; 48; XX, +21, +mar; and 69, XXX) were discovered. In a group of 15 umbilical cord samples two cases with chromosomal abnormalities (trisomy 21 and 46, XY with sex reversal) were found, two pseudomosaicisms due to maternal cells contamination and two samples with only maternal blood were obrained. Trisomy 18, trisomy 22, monosomy X and four normal karyotypes were found in a grooup of seven amniotic samples. Therefore, in 40 pregnancies ascertained because of an abnormal sonogram eight (20 percent) chromosomopathies were detected.
Descriptors		PREGNANCY COMPLICATIONS CHROMOSOME ABNORMALITIES PLACENTA BIOPSY