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Absent or Shortened Nasal Bone Length and the Detection of Down Syndrome in Second-Trimester Fetuses

From the ¹Division of Maternal–Fetal Medicine, Department of Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, Connecticut; ²Division of Human Genetics, Department of Genetics and Developmental Biology, University of Connecticut Health Center, Farmington, Connecticut; and ³Department of Obstetrics and Gynecology, St. Francis Hospital and Medical Center, Hartford, Connecticut.

OBJECTIVE: To estimate the accuracy of evaluating nasal bone length, expressed as multiples of the median (MoM), for the detection of Down syndrome in second- trimester fetuses.

METHODS: Expected normal median nasal bone measurements were established for an initial cohort of women receiving fetal ultrasound examinations at 15–24 weeks of gestation. Nasal bone lengths were converted to MoM with adjustment for maternal race and ethnicity using whites as the referent group. Nasal bone MoM were compared in euploid and Down syndrome fetuses. The sensitivity and specificity were evaluated in this initial cohort and in a second cohort in which all ultrasound measurements were carried out prospectively.

RESULTS: For the combined data set, 10 of 21 affected pregnancies had an absence of the nasal bone (sensitivity 47.6%), but absence was noted in only 1 of 2,515 unaffected pregnancies (false-positive rate 0.04%). Using less than 0.80 MoM as a cutoff, the sensitivity was 20 of 21 (95.2%), and the false-positive rate was 185 of 2,515 (7.4%). Changing the cutoff to 0.75 MoM resulted in 18 of 21 (85.7%) sensitivity and 74 of 2,515 (2.9%) false-positive rate. Using medians derived from whites to calculate MoM for the entire population resulted in higher false-positive rates.

CONCLUSION: Nasal bone length expressed as MoM seems to be an useful ultrasound marker for Down syndrome in second-trimester fetuses with a high sensitivity and a low false-positive rate.

LEVEL OF EVIDENCE: III