LAUSR

BACKGROUND Chromosome is the carrier of genetic material. Chromosome aberrations will lead to the increase or loss of genetic material, which is an important factor for early miscarriages and birth defects of newborn. Prenatal diagnosis is one of the effective approaches to find fetus with early genetic abnormalities. METHODS A retrospective analysis of chromosome karyotype abnormality studies of 45 pregnant women with indications of amniocentesis, referred to Affiliated Hospital of Putian University, Fujian Province, Putian, China in 2015 - 2019, was performed. Among those, 45 cases of amniotic fluid specimens were cultured. Furthermore, their parents' chromosome karyotypes in peripheral blood were examined. RESULTS Among these 45 abnormal karyotypes, balanced translocation was seen in 19 cases, including 17 cases of the genetic parents and 2 newly developed. There were 2 cases of unbalanced translocation, all of which were inherited from the father. Aneuploidy was seen in 3 cases of abnormal autosome number and 1 case of number anomalies of gender chromosomes. Polymorphism (15 cases) were all inherited from the parents, most of which were inv(9) and inv(Y) polymorphism. CONCLUSIONS The abnormal karyotype of amniotic fluid cells was found by amniocentesis. The parents should be called back for the karyotype examination of peripheral blood to determine the source of the abnormal karyotype, and provide guidance for clinical genetic consultation and intervention, which is of great practical significance to improve the birth rate and reduce birth defects.