First-trimester nuchal edema as a marker of aneuploidy.
Targeted ultrasonographic screening for nuchal fluid accumulation during the first trimester (9-13 weeks) seems to be a recommendable method for the detection of Down's syndrome and other chromosomal anomalies in pregnant women. It compares favorably with current methods of maternal serum screening performed during the second trimester. Using a 4-mm cut-off value, the detection rate of aneuploidy among our population was found to be 57.1%, with a false-positive rate of 0.7% and a positive predictive value of 72.7%. Chromosomal analysis should be considered for fetuses with nuchal translucency equal to or greater than 4 mm in the first trimester.
Comas
C
C
Department of Obstetrics and Gynecology, University of Barcelona, Spain.
Martinez
J M
JM
Ojuel
J
J
Casals
E
E
Puerto
B
B
Borrell
A
A
Fortuny
A
A
D000293:Adolescent; D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005500:Follow-Up Studies; D005819:Genetic Markers; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics; D007621:Karyotyping; D008875:Middle Aged; D009333:Neck / Q000000981:diagnostic imaging / Q000473:pathology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011446:Prospective Studies; D015203:Reproducibility of Results; D014314:Trisomy; D016216:Ultrasonography, Prenatal
D005819:Genetic Markers