NONINVASIVE SCREENING OF PREGNANT WOMEN

Objective. To define the diagnostic value of a prenatal diagnosis program, by using noninvasive and invasive studies of the most common chromosomal abnormalities (such as Down syndrome and Edwards syndrome) and some multifactorial embryonic/fetal malformations (neural tube defects) in different periods of normal or threatened miscarriage-complicated singleton and multiple pregnancies. Subjects and methods. A total of 2022 women were examined during their first or second trimesters of normal or threatened miscarriage-complicated singleton and multiple pregnancies, who received hormonal therapy. The authors used noninvasive (ultrasonography, biochemical screening, software support to assess risks for fetal pathology (computer-assisted analysis) and invasive (transabdominal choriocentesis or transcervical chorion biopsy in the first trimester of pregnancy, placentocentesis, amniocentesis, cordocentesis in the second trimester to determine embryonic/fetal karyotypes) studies. The data obtained were statistically processed applying the Excel computer program. Results. According to the results of noninvasive prenatal diagnosis, all the women were allocated to 2 groups: those at low and high risk of a baby to be born with chromosomal abnormality. The high risk of the latter (1:130—1:5) was due to the enlarged embryonic collar of area. Multiple pregnancy showed no correlation between the values of serum markers, the high risk of chromosomal disorders in accordance with the computer program, and karyotypic abnormalities. Conclusion. Based on the findings, the authors have stated some propositions that pregnant women should be examined using screening programs. The main propositions are that ultrasound markers have a dominant role in the formation of a group at risk for a baby to be born with a chromosomal abnormality and neural tube defects; invasive diagnosis plays a crucial role in the detection of an embryonic/fetal chromosomal abnormality.

first and second trimesters of pregnancy, noninvasive screening, invasive prenatal diagnosis, chromosomal abnormality