Predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities.
OBJECTIVE
The study aimed to estimate the incidence of increased nuchal translucency in the first trimester ultrasound scan results (cut-off limit 2.5 mm) and to evaluate the predictive value of increased nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities.


METHODS
We used the ultrasound scan results of nuchal translucency evaluation and the results of chromosomal analysis of the invasive prenatal control performed as a result of increased nuchal translucency.


RESULTS
We collected 2183 nuchal translucency ultrasound scans in which we detected 21 embryos with a pathologic value (0.96%). We collected the data of 168 cases of invasive prenatal control due to increased nuchal translucency from which 122 cases were found. A total of 122 cases of pregnant women undergone an invasive prenatal diagnostic method due to increased nuchal translucency, of which 11 fetuses were found with trisomy 21 (Down syndrome) (9%), 3 fetuses with trisomy 13 (Patau syndrome) (2.45%), 3 fetuses with monosomy 45XO (Turner syndrome) (2.45%) and 1 fetus with translocation (0.8%).


CONCLUSIONS
The positive predictive value of the increased fetal nuchal translucency as a screening test for the detection of fetal chromosomal abnormalities based on the results of the chromosomal-genetic analysis of the invasive prenatal diagnostic procedures is 14.8%.
Alexioy
Eleni
E
Department of Mother's and Children's Health, National School of Public Health, Athens, Greece.
Alexioy
Eleni
E
Trakakis
Eftihios
E
Kassanos
Demetrios
D
Farmakidis
George
G
Kondylios
Antonios
A
Laggas
Demetrios
D
Salamalekis
Emmanuel
E
Florentin
Lia
L
Kanavakis
Emmanuel
E
Basios
George
G
Trompoukis
Pantelis
P
Georgiadoy
Lina
L
Panagiotopoulos
Takis
T
D000293:Adolescent; D000328:Adult; D000649:Amniocentesis / Q000706:statistics & numerical data; D002869:Chromosome Aberrations; D020732:Cytogenetic Analysis / Q000379:methods / Q000706:statistics & numerical data; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008423:Maternal Age; D008875:Middle Aged; D048208:Nuchal Translucency Measurement / Q000379:methods* / Q000706:statistics & numerical data; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000502:physiology; D055815:Young Adult