Absent nasal bone at 11–14 weeks of gestation and chromosomal defects

Cicero, S.; Longo, Daniela; Rembouskos, G.; Sacchini, C; Nicolaides, Kypros H.

doi:10.1002/uog.170

Cited by 117 publications

(89 citation statements)

References 9 publications

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“…[8][9][10] Using firsttrimester sonography, Prefumo et al 11 showed a trend of a higher incidence of an absent nasal bone in fetuses of healthy Asian mothers. Another study by Cicero et al 12 reported that the incidence of an absent nasal bone at 11 to 14 weeks' gestation was substantially higher in African Caribbean (10.4%) and Asian (6.8%) fetuses than in white fetuses (2.8%).…”

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confidence: 99%

A Thai Reference for Normal Fetal Nasal Bone Length at 15 to 23 Weeks' Gestation

Sutthibenjakul¹,

Suntharasaj²,

Suwanrath³

et al. 2009

J of Ultrasound Medicine

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Objective. The purpose of this study was to establish a Thai reference for normal fetal nasal bone length at 15 to 23 weeks' gestation. Methods. The fetal nasal bone was measured by sonography in 295 pregnant women at 15 to 23 weeks' gestation from May to August 2005. One of the first 4 authors performed 3 measurements for each woman when the fetus was in the midsagittal plane and the nasal bone was close to a 45° or 135° angle to the ultrasound beam. All neonates were examined after delivery to confirm an absence of congenital abnormalities. Results. The median nasal bone length increased by gestational age from 3.6 mm at 15 weeks to 7.3 mm at 23 weeks in a linear relationship. The fifth percentile nasal bone lengths were 2. 5, 3.04, 3.28, 3.64, 4.21, 4.82, 5.69, and 6.13 mm at 15, 16, 17, 18, 19, 20, 21, and 22 weeks, respectively. The median time for measurement was 5 minutes. Conclusions. The nasal bone length in Thai fetuses at 15 to 23 weeks was found to be on average shorter than that in white and African American fetuses. Key words: fetal nasal bone; normal length; Thai reference. University, Hat Yai, Songkhla 90110, own syndrome is the most common chromosomal abnormality in neonates. 1 Invasive prenatal diagnosis has been proposed for populations at risk (mainly women >35 years or who have had a previous child with Down syndrome), but this strategy only detects 20% to 25% of fetuses with Down syndrome.2 Many new tests have been reported to improve the sensitivity of screening, such as maternal serum biochemical studies and sonographic markers.Flattening of the facial profile and a small nose are common in neonates with Down syndrome. 3 Absence or hypoplasia of the fetal nasal bone in children with Down syndrome has been detected by first-and secondtrimester sonography. [4][5][6] In the second trimester, using the fifth percentile of fetal nasal bone length as a cutoff value resulted in a Down syndrome detection rate of 77.7% and a false-positive rate of only 0.7%.

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confidence: 99%

A Thai Reference for Normal Fetal Nasal Bone Length at 15 to 23 Weeks' Gestation

Sutthibenjakul¹,

Suntharasaj²,

Suwanrath³

et al. 2009

J of Ultrasound Medicine

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“…For this purpose, ultrasound has proved to be an invaluable diagnostic and screening tool. The absence of the fetal nasal bone on prenatal sonogra-phy between 11 and 14 weeks' gestation has been suggested by some, 5,6 but not all, 7 as a useful screening tool for detection of trisomy 21. Nasal bone hypoplasia during the second trimester has also been associated with a high risk for trisomy 21 and has been suggested as a highly sensitive and specific sonographic marker for chromosomal aneuploidy.…”

mentioning

confidence: 99%

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Tran

Carr

Mitsumori

et al. 2005

Journal of Ultrasound in Medicine

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Objective. The purpose of this study was to evaluate the association between the second-trimester fetal biparietal diameter/nasal bone length (BPD/NBL) ratio and trisomy 21. Methods. Thirty-one cases of trisomy 21 for which complete ultrasound images included the nasal bone were identified from the University of Washington prenatal diagnosis database and matched to 136 euploid fetuses based on maternal age, indication for referral, and gestational age. Results. The mean NBL was shorter (mean ± SD, 2.3 ± 1.7 mm versus 3.9 ± 1.2 mm; P < .001) and the BPD/NBL ratio was greater (17.7 [range, 6.2-114] versus 11.7 [range, 5.8-80]; P < .001) in the fetuses with trisomy 21. The risk of trisomy 21 increased 2.4-fold (95% confidence interval [CI], 1.7-3.4) with every 1-mm decrease in NBL and increased 1.08-fold (95% CI, 1.03-1.12) with each unit increase in the BPD/NBL ratio (P < .001). A multiple logistic regression model was constructed and included the BPD/NBL ratio, maternal indications (age ≥35 years, positive serum screening results, or both, yielding a risk of <1 per 270 for trisomy 21), and sonographic markers as covariates. The BPD/NBL ratio was found to be an independent predictor of trisomy 21 (odds ratio, 1.08; 95% CI, 1.03-1.11). An analysis of receiver operating characteristic curves revealed an improvement after the BPD/NBL ratio was added to a model containing the current second-trimester screening based on maternal age, serum screening, and sonographic markers (receiver operating characteristic curve area, mean ± SE, 0.89 ± 0.03 for the model with the BPD/NBL ratio versus 0.76 ± 0.06 without the BPD/NBL ratio; P = .009). Conclusions. The secondtrimester BPD/NBL ratio was a significant and independent predictor of trisomy 21. An assessment of the BPD/NBL ratio may improve the diagnosis of trisomy 21 when used with current prenatal screening practices. Key words: nasal bone length; screening; trisomy 21; ultrasound. Current second-trimester screening for aneuploidy includes maternal serum screening and targeted ultrasound evaluation. A number of sonographic abnormalities or "soft markers" have been associated with trisomy 21; some authors have combined these results to provide a risk score or probability for trisomy 21. 3,4 The goal of such prenatal screening programs is accurate detection of fetal aneuploidy and avoidance of unnecessary invasive diagnostic testing. For this purpose, ultrasound has proved to be an invaluable diagnostic and screening tool. The absence of the fetal nasal bone on prenatal sonogra- Received December 6, 2004, from the Department of Obstetrics and Gynecology, Division of MaternalFetal Medicine of Perinatal Medicine (L.T.T., D.B.C., S.B.U., L.E.S.), and Department of

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“…Several studies have demonstrated a strong between an absent nasal bone at 11-14 weeks of gestation and trisomy 21 [32][33][34]. And in the combined data from these studies, the fetal nasal bone was absence in 69% of fetus with trisomy 21 [26].…”

Section: Discussionmentioning

confidence: 68%

“…In present study, the fetal structural defects of Down syndrome were poverty in anatomical ultrasound scanning at the 18-22 weeks of gestation, so an association with many approaches was useful to improve the detection rate of trisomy 21. Because the absence of the nasal bone is not related to fetal NT thickness [31], and the finding screening of maternal age alone showed no advantage for detection of trisomy 21 [13], therefore, they could be combined relatively simply to provide a more effective method of early screening for trisomy 21 [6,33].…”

Section: Discussionmentioning

confidence: 99%

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

Tomai¹,

Schaaps²

2012

Gynecol Obstet

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Aims: This study aimed to evaluate the most effective approach screening of trisomy 21 in the first trimester in Vietnam Method: A prospective study carried out during 1 year. All pregnancies screened the risk of trisomy 21 by association of the fetal nuchal translucency, maternal age and biochemical serum (free β-hCG and PAPP-A) as a combined test in the first trimester. The amniocentesis was used to diagnose trisomy 21. In each 4 approaches screening (the isolated maternal age, the maternal age and fetal NT thickness, maternal age and biochemistry, and combined test), the detection rate and false positive rate of trisomy 21 were calculated to find out the most effective screening method.Results: Followed up 2500 singleton pregnancies, the incidence of trisomy 21 was 0.6% (16/2500) (95%CI 0.4-1.0%). The absence of nasal bone and poly-malformation were the essential ultrasonographic findings of Down's syndrome. An increased fetal NT (≥ 2.4 mm) related significantly to this aneuploidy (OR=58.6, 95%CI 17.3-251, p < 0.0001). In comparison of 4 approaches screening, the most possibility of Down's syndrome detection was the combined test (87.5% of sensitivity for 2.6% of false positive rate). Conclusion:The combined test was effectively screening method for Down syndrome in Vietnamese pregnancies.

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Absent nasal bone at 11–14 weeks of gestation and chromosomal defects

Cited by 117 publications

References 9 publications

A Thai Reference for Normal Fetal Nasal Bone Length at 15 to 23 Weeks' Gestation

A Thai Reference for Normal Fetal Nasal Bone Length at 15 to 23 Weeks' Gestation

Second-Trimester Biparietal Diameter/Nasal Bone Length Ratio Is an Independent Predictor of Trisomy 21

Evaluation of Trisomy 21 Screening by Fetal Nuchal Translucency Thickness, Maternal Age and Biochemical Serum in the South of Vietnam

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