Indications, Results and Complications of Prenatal Genetic Diagnostic Testing at a Single Healthcare Center

Abstract

 Objectives: This study is intended to determine the relations between indications of prenatal diagnostic testing and fetal chromosomal abnormalities and evaluate the complications of invasive diagnostic tests.

Methods: Indications, results from karyotyping and complications were evaluated in pregnant women who preferred invasive diagnostic testing at a single healthcare centre between January 2018 and January 2020.

Results: 1232 pregnant women diagnosed with high risk in their aneuploidy screening and underwent prenatal diagnostic testing were investigated. Chorionic villus biopsy was administered on 235 (19.1%), amniocentesis on 969 (78.7%), and cordocentesis on 28 pregnant women (2.2%). The most common indication for prenatal diagnostic testing was the increased risk of trisomy 21 in the maternal serum. The indications most commonly associated with chromosomal abnormalities were fetuses with abnormal ultrasound results in the first trimester (34.2%). The most common chromosomal abnormality in fetuses with abnormal karyotype was trisomy 21. The procedure-induced complications were reported for 0.7%.

Conclusions: Prenatal ultrasound increases the rate of detection of fetal chromosomal disorders. Abnormal manifestations detected mainly in the first trimester ultrasonography are a strong indicator for the abnormal fetal karyotype.