Study of amniotic fluid samples from pregnant women with high risk of fetus abnormalities by routine cytogenetics method (karyotyping) and molecular method (fish) by using x and y probs

Parisa Vahidi,1,* Seyed ali rahmani,2 Nahid hadige rezvan,3

1. Tabriz Islamic Azad University
2. Dr.Rahmani Genetic Lab
3. Dr.Rahmani Genetic Lab



The health of the fetus during the 9 months of pregnancy is very important for every pregnant couple. identifying carriers of the genetic diseases and their diagnosis before birth controls the disease׳s prevalence and does not impose huge costs on the patient׳s family and community. this study confirms rapid prenatal diagnosis importance in the chromosomal abnormalities identification.


100 amniotic fluid samples were studied by karyotyping and 22 samples were studied by fluorescence in situ hybridization (fish) and karyotyping. karyotyping was performed on metaphase chromosomes to identify all the chromosomal abnormalities and fish detected chromosomal abnormalities by using x and y probs, as the rapid method. the results from both methods were compared.


We identified two cases with down syndrome (1.6%), one case with edwards syndrome (0.81%), one case with chromosome 15ps+ (0.81%), six cases with chromosome 15p+ (4.91%), two cases with chromosome 9qh+ (1.6%), one case with pericentric inversion of chromosome y (0.81%), one case with xyy mosaicism (0.81%), one case with partial trisomy 22 (0.81%), one case with chromosome 1qh+ (0.81%) and one case with unknown segment on p arms of chromosome 15 (0.81%).


Fish is a useful method with high sensitivity to provide rapid results for couples who don׳t have enough time to end their pregnancy legally. in cases of x-linked diseases, it is a reliable method to learn the sex of the fetus. fish is not able to detect structural anomalies, therefore karyotyping is required for absolute right outcomes of chromosome abnormalities.


Chromosomal abnormalities, fish, karyotyping