PRENATAL GENETIC STUDY OF THE MAIN ALTERATIONS FOUND IN THE CITY OF GOIÂNIA - GOIÁS

• DOI: https://doi.org/10.22533/at.ed.1594362410049

• Palavras-chave: Genetic study, Alterations, Amniocentesis.

• Keywords: Genetic study, Alterations, Amniocentesis.

• Abstract: Introduction: The first prenatal screening test was introduced in the 1970s: a single serum test in the second trimester for maternal serum alpha-fetoprotein, a marker of neural tube defects. Screening for aneuploidies using maternal serum markers was introduced in the 1980s, and the number and complexity of screening tests offered has been on an upward trajectory ever since. Prenatal genetic screening is used to assess whether there is an increased risk of the fetus being affected by a genetic disorder. Objective: To evaluate the main alterations found in prenatal genetic screening. Methods: This is a cross-sectional, analytical, descriptive epidemiological study that will be carried out at the Fertile Clinic's malformations outpatient clinic with findings from the last 4 years. Results: 73 fetal anomalies were found, with an average maternal age of 32, ranging from 16 to 45 years. The main indication was increased fetal NT in 34 (46.9%) of the cases, amniocentesis was the main test of choice in 65 (89%), and the age at which alterations were most common was under 35 in 46 (63%) of the cases. The main alteration found was Trisomy 18, 24 (32.9%) followed by Trisomy 21 23 (31.5%), in women under 35 the main alteration was Trisomy 18 in 18 (39.1%) and in women over 35 the main alteration was Trisomy 21, 14 (51.9%). Conclusion: In the group studied, there were 36.1% of alterations in prenatal genetic studies. The most prevalent maternal age was under 35. Alterations in the NT were the main indication for the genetic study. The most commonly used technique was amniocentesis.