Assessment of risk for chromosomal abnormalities at 10-14 weeks of gestation by nuchal translucency and maternal age in 5,210 fetuses at a single centre.
OBJECTIVE
To evaluate the screening of chromosomal abnormalities by nuchal translucency (NT) measurement.


METHODS
Assessment of risk for chromosomal abnormalities by NT and maternal age in 5,210 single fetuses with karyotype and outcome already known.


RESULTS
Risk was > or =1 in 300 in 640 (12.2%) of all fetuses, in 575 (11.1%) of the normal fetuses, in 38 (80.8%) of the fetuses affected by trisomy 21, and in 65 (89%) of the fetuses affected by chromosomal abnormalities. Risk was > or =1 in 200 in 477 (9.1%) of all fetuses, in 418 (8.1%) of the normal fetuses, in 35 (74.4%) of the fetuses affected by trisomy 21, and in 59 (80.8%) of the fetuses affected by chromosomal abnormalities. Risk was > or =1 in 100 in 270 (5.1%) of all fetuses, in 216 (4.2%) of the normal fetuses, in 33 (70.2%) of the fetuses affected by trisomy 21, and in 54 (73.9%) of the fetuses affected by chromosomal abnormalities.


CONCLUSIONS
Risk generated by NT and maternal age is effective in screening for chromosomal abnormalities.
Zoppi
M A
MA
Department of Obstetrics and Gynecology, Prenatal and Preimplantation Genetic Diagnosis and Fetal Therapy, Ospedale Regionale per le Microcitemie, Cagliari, Italy.
Ibba
R M
RM
Putzolu
M
M
Floris
M
M
Monni
G
G
D000328:Adult; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis; D008423:Maternal Age; D009333:Neck / Q000000981:diagnostic imaging*; D011247:Pregnancy; D012307:Risk Factors; D014314:Trisomy; D014424:Turner Syndrome / Q000175:diagnosis; D014463:Ultrasonography