Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14‐week scan

Cicero, S.; Rembouskos, G.; Vandecruys, H.; Hogg, Matthew; Nicolaides, Kypros H.

doi:10.1002/uog.992

Cited by 176 publications

(122 citation statements)

References 22 publications

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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: 91%

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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Section: Discussionmentioning

confidence: 91%

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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“…The midfacial hypoplasia in Down syndrome can be shown by the shorter maxillary length, absent nasal bone, and frontomaxillary facial angle, which was significantly greater in fetuses with trisomy 21 than in euploid fetuses. [18][19][20][36][37][38][39] In fetuses with trisomy 18, it was reported that the frontomaxillary facial angle was greater and the mandibulomaxillary facial angle was smaller than those in normal fetuses because of midfacial hypoplasia and micrognathia or retrognathia. Fetal alcohol syndrome is characterized by evidence of growth restriction, neurodevelopmental abnormalities, and a characteristic pattern of facial anomalies, such as short palpebral fissures, midfacial hypoplasia, a smooth philtrum, minor ear anomalies, and micrognathia.…”

Section: A B Cmentioning

confidence: 99%

Craniofacial Inclination at 14 to 39 Weeks' Gestation in Normal Korean Fetuses

Lee

Choi

et al. 2012

Journal of Ultrasound in Medicine

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Objectives The purpose of this study was to evaluate a normal range for prenatal craniofacial inclination using images of fetal profiles at 14 to 39 weeks' gestation in normal Korean fetuses. Methods We conducted a cross‐sectional study of 308 normal fetuses at 14 to 39 weeks' gestation. After the exclusion of images with inadequate quality, the sagittal plane of the sonographic fetal facial profile from 250 normal fetuses was evaluated. The frontomaxillary facial, frontonasal, maxilla‐nasion‐mandibular, and mandibulomaxillary facial angles were measured and are presented according to gestational age. Results The overall mean frontomaxillary facial angle ± SD was 86.0° ± 7.6° between 14 weeks 6 days' and 39 weeks 2 days' gestation without a significant association between the frontomaxillary facial angle and gestational week. The overall mean frontonasal, maxilla‐nasion‐mandibular, and mandibulomaxillary facial angles were 125.8° ± 7.2°, 4.7° ± 3.3°, and 83.2° ± 8.5° between 14 weeks and 39 weeks 6 days. There was a significant linear correlation between gestational age and the frontonasal angle (r = −0.1534; P = .0187; y = −0.188 × gestational age + 130.7), maxilla‐nasion‐mandibular angle (r = −0.2773; P < .0001; y = −0.160 × gestational age + 9.0), and mandibulo‐maxillary facial angle (r = −0.2861; P < .0001; y = −0.432 × gestational age + 94.6). Conclusions We provide preliminary normative data for fetal facial angles related to craniofacial inclination across gestational ages in normal Korean fetuses. These data may be of help not only for the understanding of normal facial growth in utero but also for diagnosis of abnormal fetal facial dimensions.

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“…Detection of the presence or absence of a nasal bone has been found to be of value in the assessment of aneuploidy in the first trimester of pregnancy (risk assessment for trisomy 21). [16][17][18][19][20] Cicero et al 20 reported that the nasal bone was absent in 113 (0.6%) of the 20,165 chromosomally or phenotypically normal fetuses and in 87 (62.1%) of the 140 fetuses with trisomy 21. 3D sonography allows a midsagittal section of the fetal face to be obtained by utilizing the three orthogonal planes, and avoids the pitfall of obtaining a parasagittal view, which could lead to false-negative results.…”

Section: Facial Abnormalitiesmentioning

confidence: 99%

Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

Pooh¹,

Kurjak²,

Chervenak³

2012

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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The introduction of three-dimensional (3D)/four-dimensional (4D) sonography with high-frequency transvaginal transducer has resulted in remarkable progress in ultrasonographic visualization of early embryos and fetuses and development of new fields of 3D sonoembryology. With the proper use of this new diagnostic modality and with experienced examiner, both structural and functional development in the first trimester of gestation can be assessed more objectively and reliable.Indeed, new technology moved embryology from postmortem studies to the in vivo environment. Furthermore, there are good reasons to believe that 3D/4D sonography moved prenatal diagnosis of fetal abnormalities from the second to the first trimester of pregnancy. We will try to illustrate it with the number of convincing figures.

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Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14‐week scan

Abstract: Objective To update the likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11-14-week scan. Methods

Cited by 176 publications

References 22 publications

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

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

Craniofacial Inclination at 14 to 39 Weeks' Gestation in Normal Korean Fetuses

Three-dimensional/Four-dimensional Sonography moved Prenatal Diagnosis of Fetal Anomalies from the Second to the First Trimester of Pregnancy

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