Analiza wskazań do amniopunkcji genetycznej w zależności od wieku pacjentek na podstawie materiału Kliniki Położnictwa, Chorób Kobiecych i Ginekologii Onkologicznej CM UMK w Bydgoszczy

Abstract

Introduction: Genetic amniocentesis (GA) is the most common prenatal diagnostic test. One of the main indications for GA is maternal age of ≥35 years. In many countries, the age indication has been replaced by an assessment of individual risk for chromosomal abnormalities, calculated on the basis of maternal age, pregnancy duration, as well as a combination of biochemical and ultrasound markers. Objectives: The aim of the study was to investigate indications for and results of GA performed between 2010-2012 at the Department of Gynecology, Obstetrics, and Oncologic Gynecology, Nicolaus Copernicus University, Collegium Medicum, Bydgoszcz. Materials and methods: A total of 632 GA tests were performed at the Department of Gynecology, Obstetrics, and Oncologic Gynecology, Nicolaus Copernicus University, Collegium Medicum, Bydgoszcz. Average maternal age was 34 (between 17 and 47 years), with patients <35 constituting 47.9% (N = 303 ), and patients ≥35 constituting 52.1% (N = 329) of the investigated group. Indications for GA as well as test results were analyzed in relation to maternal age. The result of earlier non-invasive tests were also analyzed. Results: Abnormal ultrasound findings, combined with abnormal first-trimester screening results, were the most common indication (46.53%) for GA in patients <35 years, whereas abnormal first-trimester screening results, combined with a history of obstetric complications, were the reason for GA in patients ≥35 years. Mean time of GA was 16 gestational weeks in both groups. Abnormal karyotype was detected in 74 (11.7%) cases. 13 or any other abnormal karyotypes occurrence were observed in both age groups. GA-related complications (miscarriage/intrauterine fetal death) occurred in 9 (1.42%) cases. Conclusions: If performed properly, GA between 15 and 20 weeks of pregnancy is a harmless procedure both, for the mother and the fetus, associated with an acceptable complication rate. Prenatal screening for the most common malformations and chromosomal aberrations should be offered to all pregnant women in Poland, regardless of their age.