The importance of early amniocentesis in prenatal diagnosis of fetal chromosomal abnormalities

Dženana Ostrvica, Fahrija Skoki?, Edin Ostrvvica, Nermina Dedi?, Hazba Sejdin


Objectives: To determine the significance of early amniocentesis to detect fetal chromosomal abnormalities in pregnancies with increased risk, to determine the frequency and type of chromosomal abnormalities of the fetus and its relationship with risk factors of the parents with troubled anamnesis.

Methods: The study was prospective, conducted at UKC Tuzla, period from October 2013 to June 2015. Target group were 389 pregnant women with a high risk of the chromosomal defects. In 256 pregnant women amniocentesis was done because of the age of the pregnant woman or her partner, and in 153 pregnant women indications for amniocentesis were ultrasonic and biochemical markers or troubled anamnesis.

Results: In 153 pregnant women younger than 35 years amniocentesis was done because of the positive ultrasound (50.67%) or biochemical (14.18%) markers on chromosomal defects or due to troubled personal or family anamnesis (35.13%).

In 49.01% of pregnant women amniocentesis was done because of the positive sonographic markers of chromosomal defects, and increased nuchal translucency of the fetus was the most common indication for amniocentesis (24.83%). In three pregnant women younger than 35 years in kariogramu, chromosomal defects were detected [47xy+21; 46xxdel(x)(q2?1) and 47xx+18]. Due to the high risk of double and triple test on the chromosomal abnormality, amniocentesis was performed in 14.18% of pregnant women. In one case 47xy+21 karyotype was confirmed. In 4.66% of pregnant women older than 35 chromosomal defects were detected. In 5.26% cases with fetal nuchal translucency greater than 3 mm were identified chromosomal defects of the fetus [47xy+21 and 46xxdel(x)(q2?1)], whereas in 11.11% of pregnant women with reverse flow the ductus venosus detected karyotype 47xx+18.

  1. Conclusion: Multiple tests on numerical and structural chromosome errors significantly exceeds the individual markers. Early amniocentesis is the most reliable method for detecting chromosomal abnormalities of the fetus in pregnant women at increased risk.

  2. Key words: pregnant women, amniocentesis, chromosomal abnormalities


DOI: 10.5457/ams.v45iSuppl. 1.372