INTERNATIONAL JOURNAL OF HUMAN GENETICS, cilt.19, sa.3, ss.146-151, 2019 (SCI-Expanded)
The researchers retrospectively evaluated the data of patients who underwent invasive prenatal diagnostic tests with respect to the following risk factors: 1) history of chromosomal abnormality in the family (n=36), 2) history of chromosomal abnormality in a previous pregnancy (n=18), and 3) history of chromosomal abnormality in the parents (n=3) between 2000 and 2017. The diagnostic test results of patients with a history of chromosomal abnormality in the family and those with a history of a chromosomal abnormality in a previous pregnancy were compared. A total of 57 invasive procedures were evaluated. The aneuploidy rates were 41.7 percent and 16.7 percent for patients with a history of chromosomal abnormality in the family and patients with a history of chromosomal abnormality in a previous pregnancy respectively (p = 0.085). Invasive prenatal tests should be recommended to patients at high risk of chromosomal aneuploidy.