Prevalence of chromosomal abnormality in prenatal cases with high risk for chromosomal aneuploidy
Dr. Shailesh Pande, Dr. Anurita Pais, Gauri Pradhan, Yamini Jadhav, Chaitali Parab, Bharat Kalthe, Sunmeet Matkar
Determination of fetal chromosomal patterns in high-risk prenatal cases using cytogenetic techniques was performed on 479 amniotic fluid samples. All cases were referred to Global Reference Laboratory and PCPNDT accredited centre- Metropolis Healthcare Ltd, Mumbai during year-2015 to year-2016. FISH and conventional karyotyping techniques were performed. Out of 479 amniotic fluid study samples, chromosomal abnormality was detected in 62 cases (12.94%) while aneuploidy was detected in 48 cases (77.42%). Amongst the aneuploidy cases, trisomy 21 was the most common abnormality detected in 31 (64.58%), followed by trisomy 18 in 9 (18.75%), monosomy of sex chromosome in 4 (8.33%), trisomy 13 in 3 (4%) and triploidy in 1 (2.08%) case. Apart from aneuploidies, structural abnormality was detected in 10 cases (16.13%) in the form of translocation, deletion, presence of derivative chromosome. cases. Fetal chromosomal karyotyping and FISH can be a useful tool for detection of fetal aneuploidies and structural chromosomal abnormalities.