Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women

Du, Yan; Ren, Yanping; Yan, Yongkun; Cao, Li

doi:10.1111/aogs.13263

Cited by 23 publications

(29 citation statements)

References 28 publications

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“…In this study, chromosome abnormalities were found in 25 (24.5%) of 102 fetuses with abnormal nasal bone development, among which the majority (n = 15) had trisomy 21. The ratio was similar to some reports at home and abroad [5,10,14].…”

Section: Discussionsupporting

confidence: 91%

“…Previous studies have shown that fetal nasal bone anomaly can be used as an ultrasound soft marker for screening of fetal chromosomal aberrations, particularly trisomy 21 syndrome. Nasal bone abnormality is closely associated with Down syndrome in fetuses with special facial features such as low and at nasal root, widened eye distance, and glassy eyes [2,[10][11][12][13]. In this study, chromosome abnormalities were found in 25 (24.5%) of 102 fetuses with abnormal nasal bone development, among which the majority (n = 15) had trisomy 21.…”

Section: Discussionmentioning

confidence: 75%

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Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Xie¹,

Wu²,

Su³

et al. 2020

Preprint

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Objective: To explore the significance and value of fetal nasal bone anomaly (absence or hypoplasia) as indications of prenatal diagnosis.Methods: A total of 102 fetuses diagnosed with nasal bone absence or hypoplasia by ultrasonography underwent chorionic, amniotic, or umbilical cord blood puncture. Single nucleotide polymorphism microarray (SNP-array) was used to analyze fetal chromosomes.Results: Of the 102 fetuses with nasal bone absence or hypoplasia, 25 (24.5%) had chromosomal abnormalities, including 15 cases of trisomy 21, one trisomy 18 case, and 9 cases of other copy number variations. Among the 52 cases with isolated nasal bone absence or hypoplasia, 7(13.5%) had chromosomal abnormalities. In 50 cases, abnormal nasal bone with additional soft markers or structural abnormalities was observed, while 18 cases (36.0%) had chromosomal abnormalities, which were significantly higher than that among the fetuses with isolated nasal bone abnormality.Conclusion: Fetal nasal bone absence or hypoplasia can be used as an indication for prenatal diagnosis. The detection rate of chromosomal abnormalities increases with additional soft markers or structural abnormalities. This study demonstrates that fetal nasal bone absence or hypoplasia is associated with micro-deletions or micro-duplications of chromosomes. Application of single nucleotide polymorphism microarray (SNP-array) technology can reduce the rate of missed prenatal diagnoses.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 75%

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Xie¹,

Wu²,

Su³

et al. 2020

Preprint

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“… – 1 22 4, 5, 6, 7 4: chr22, 2.52 M 22q11 deletion syndrome (Velocardiofacial/DiGeorge syndrome); 5: chr22, 2.58 M 22q11 deletion syndrome (Velocardiofacial/DiGeorge syndrome); 6: chr22, 3.68 M deletion syndrome Waardenburg syndrome; 7: chr22, 2.94 M 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome). [ 31 ] 4 “-” means no investigation by others …”

Section: Resultsmentioning

confidence: 99%

Submicroscopic chromosomal imbalances contribute to early abortion

Liu

Xie

et al. 2018

Mol Cytogenet

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BackgroundChromosomal abnormalities are one of the genetic mechanisms associated with abortion. However, the roles of submicroscopic chromosomal imbalances in early abortion are still unclear. This study aims to find out whether submicroscopic chromosomal imbalances contribute to early abortion.MethodsA total of 78 chorionic villus specimens from early spontaneous abortion patients with no obvious abnormality are collected after miccroassay analysis (the case group). At the same time, 60 chorionic villus specimens from induced abortion patients with no obvious abnormality are selected as the control group. The submicroscopic structures of chromosomes from two groups are analyzed using an array-based comparative genomic hybridization (aCGH).ResultsIn the case group, 15 specimens show submicroscopic chromosomal abnormalities including 14 micro-deletion/micro-duplication in chromosomes 2, 4, 5, 6, 7, 8, 9, 12, 15, 16, 18, and 22, and 1 uniparental disomy (UPD) in chromosome 19. Moreover, no pathogenic copy number variations are found in the control group. The results between these two groups exhibit significantly statistical difference.ConclusionSubmicroscopic chromosomal imbalances may be one of the main reasons for early abortion.Electronic supplementary materialThe online version of this article (10.1186/s13039-018-0386-0) contains supplementary material, which is available to authorized users.

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“…Missing ossification of the two bilateral nasal bones is a further marker for trisomy 21. 27,28 3D ultrasound allows the identification of an absent nasal bone in both the multiplanar and the transparent mode ( Fig. 11).…”

Section: Absent Nasal Bonementioning

confidence: 99%

Anomalies of the Fetal Face

Merz¹,

Pashaj²

2019

Donald School Journal of Ultrasound in Obstetrics and Gynecology

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Visualization of the fetal face with three-and four-dimensional (3D/4D) ultrasound is a unique experience for both, the parents-to-be and the operator. While the future parents are primarily interested in seeing the surface of the fetal face and facial movements, the operator uses the different display modes for a precise fetal malformation check. The multiplanar mode with a simultaneous display of the three perpendicular planes allows an accurate demonstration of a normal or an abnormal fetal profile. Even if an image of the fetal face is acquired in an oblique position, the stored volume can be rotated by the rotational controls in all three directions, until the face is seen precisely in the median plane. The different surface modes enable the operator to detect abnormal protuberant structures or surface defects, while the transparent mode (maximum mode) reveals ossification defects. During a targeted ultrasound examination of the fetal face, five different regions have to be assessed: the forehead, orbits and eyes, nose, mouth, and chin. With 3D ultrasound the following fetal anomalies can be detected: anomalies including the forehead (anencephaly, protuberant forehead, abnormal metopic suture, frontal encephalocele/meningocele), anomalies of the orbits and the eyes (orbital hypoplasia/microphthalmia, hypertelorism, hypotelorism,cataract, nasolacrimal cyst/dacryocystocele,cyclopia/proboscis), abnormalities of the nose (flat nose, absent nasal bone), abnormalities of the mouth (cleft lip/cleft palate, epignathus, macroglossia, chin anomaly (retrognathia/micrognathia). 3D ultrasonography allows a comprehensive evaluation of the fetal face with different display modes. In contrast to 2D ultrasound, 3D ultrasound enables a detailed demonstration of the soft tissue of the fetal face and thus contributes to a better understanding of the malformation by both the physician and the future parents.

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Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women

Cited by 23 publications

References 28 publications

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Chromosomal Microarray Analysis of Fetuses with Nasal Bone Anomaly

Submicroscopic chromosomal imbalances contribute to early abortion

Anomalies of the Fetal Face

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