Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women
2018
INTRODUCTION:The aim of this study was to evaluate the value of absent fetal
nasal bonein the prediction of fetal
chromosomal abnormalities, according to whether it was associated with other soft markers or structural
abnormalitiesin a prescreened population of Chinese pregnant women. MATERIAL AND METHODS:In this retrospective cohort study, women whose fetuses had absent
nasal bonedetected during the second trimester
ultrasound scanwere followed. Fetal karyotyping was performed and pregnancy outcomes were recorded. The association between absent fetal
nasal bonewith
abnormalkaryotype was evaluated according to whether soft markers or structural
abnormalitieswere also observed. RESULTS:Fetal
nasal bonewas assessed in 56 707 singleton pregnancies. After exclusion of unqualified cases, 71 (71/56 707, 0.13%) fetuses were included in the final analyses, of which 16 (16/71, 22.54%) were detected to have
chromosomal abnormalities, including 12 cases of
trisomy-21, three of
trisomy-18, and one of micro-deletion (in 7q). Among the 42 cases with isolated absence of
nasal bone, two had
trisomy-21 and one had a micro-deletion. Absence of
nasal bonein association with other structural
abnormalitieshad a higher rate of
abnormalkaryotypes compared with isolated absence of
nasal bone[83.33% (10/12) vs. 7.14% (3/42),
Fisher's exact testχ2 = 25.620, p < 0.001]. CONCLUSION:Absent fetal
nasal boneis a highly specific ultrasonographic soft marker that should be included in the routine second trimester
ultrasound scan.
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