Genetic amniocentesis: indications, outcome and complications retrospective cohort study during 13 years

Abstract

Background: Amniocentesis (AC) is the most commonly used invasive prenatal test. The aim of this study was to determine which were the most common indications for AC, chromosomal abnormalities in relation to the age of the mother and complications as a result of AC. Methods: This is a retrospective thirteen-year cohort study including pregnant women who underwent AC in the period from 2008 to 2020. Patients were divided into two groups: below and above 35 years of age of mother at the time of AC. Results: During study period 2213 AC were performed, out of which 759 (34.29%) were in mother below, and 1454 (65.70%) above 35 years of age (p < 0.00001). The most common indication for AC in group above 35 years of age was advanced maternal age (93.9%), in group below 35 years of age was familial chromosomal diseases (29.91%). In all indications there is a statistically significant difference between the two age groups of pregnant women, all these indications are more prevalent in the group of pregnant women younger than 35 years (p < 0.00001). The most common chromosomal abnormalities in both groups was Down syndrome from numerical aberrations, and from structural inversion of chromosome 9. Short term complications were spontaneous abortion in 26 (1.17%), missed abortion in 4 (0.18%) and premature rupture of membranes in 4 (0.18%) cases. Conclusion: Advanced maternal age, demonstrated the strongest association with the uptake of AC, trisomy 21 was the most prevalent abnormal finding. Complications of AC are not significant compared to the general population of pregnant women.

Keywords

• advanced maternal age
• prenatal invasive testing
• trisomy 21