The present study aimed to investigate the relationship between the concentrations of essential and toxic elements present in the amniotic fluid (AF) and fetal chromosomal abnormalities in pregnant women. A total of 156 pregnant white Polish women aged between 20 and 43 years and screened to detect high risk for chromosomal defects in the first trimester were included in the study. AF samples were collected from these women during routine diagnostic and treatment procedures at mid-gestation (15-22 weeks of their pregnancies). The concentrations of various minerals in the AF were determined by inductively coupled plasma mass spectrometry. Genomic hybridization and cytogenetic karyotyping were performed to detect chromosomal aberrations in the fetuses. The genetic analysis revealed chromosomal aberrations in 19 fetuses (over 12% of all the evaluated women). The major abnormalities identified were trisomy 21 (N = 11), trisomy 18 (N = 2), and triploidy (N = 2). Fetuses with chromosomal abnormalities more frequently showed lower manganese concentration in the AF in the second trimester as compared to those with normal karyotype. A coincidence was observed between high iron levels in the AF and a higher risk of chromosomal abnormalities in the fetuses.
Keywords: amniotic fluid; chromosomal abnormalities; elements; pregnancy.