The Association Between Fetal Nasal Bone Hypoplasia and Aneuploidy
- 1 December 2004
- journal article
- research article
- Published by Wolters Kluwer Health in Obstetrics & Gynecology
- Vol. 104 (6) , 1229-1233
- https://doi.org/10.1097/01.aog.0000148848.49752.37
Abstract
OBJECTIVE: To determine the association between fetal nasal bone hypoplasia and aneuploidy in women undergoing prenatal diagnosis. METHODS: A prospective cohort study involving women undergoing chorionic villus sampling and amniocentesis for an increased risk of aneuploidy. Fetal biometric and nasal bone measurements were obtained at the time of prenatal diagnosis and compared with karyotypes. Nasal bone hypoplasia was defined as nasal bone less than 2.5th percentile for the gestational age. RESULTS: A total of 632 fetuses were evaluated. Twenty-nine (4.6%) had an aneuploidy (18 trisomy 21, 5 trisomy 18, 1 Turner's syndrome, one Marker chromosome 1, 2 sex chromosome anomalies, and 2 triploidy). Nasal bone measurements were documented in 29 aneuploid fetuses. The nasal bone was either absent or hypoplastic in 12 of 29 (41%) fetuses with aneuploidy and in 8 of 18 (44%) with trisomy 21. By using receiver operating characteristics curves, the optimal threshold of nasal bone hypoplasia associated with fetal aneuploidy was a biparietal diameter/nasal bone ratio of 11 or greater. The sensitivity, specificity, and positive and negative predictive values for the detection of fetal aneuploidy were 50%, 93%, 24%, and 98%, respectively. CONCLUSION: Absent or hypoplastic nasal bone is a marker for fetal aneuploidy in a high-risk population. However, this marker needs to be evaluated by larger prospective studies in low-risk populations before adoption for clinical use. LEVEL OF EVIDENCE: II-2Keywords
This publication has 15 references indexed in Scilit:
- Screening for Down's Syndrome — Too Many Choices?New England Journal of Medicine, 2003
- Ultrasound evaluation of fetal nasal bone at 11 to 14 weeks in a consecutive series of 1906 fetusesPrenatal Diagnosis, 2003
- Absent nasal bone at 11–14 weeks of gestation and chromosomal defectsUltrasound in Obstetrics & Gynecology, 2003
- Measurement of nasal bone length at 11–14 weeks of pregnancy and its potential role in Down syndrome risk assessmentUltrasound in Obstetrics & Gynecology, 2003
- Absence of fetal nasal bone and aneuploidies at first‐trimester nuchal translucency screening in unselected pregnanciesPrenatal Diagnosis, 2003
- Absent nasal bone in the prenatal detection of fetuses with trisomy 21 in a high-risk populationPublished by Wolters Kluwer Health ,2003
- Fetal Nose Bone LengthJournal of Ultrasound in Medicine, 2002
- Association between first trimester absence of fetal nasal bone on ultrasound and Down syndromePrenatal Diagnosis, 2002
- Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndromeAmerican Journal of Obstetrics and Gynecology, 2002
- Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational studyThe Lancet, 2001