Fetal Nasal Bone Length as a Novel Marker for Prediction of Adverse Perinatal Outcomes in the First-Trimester of Pregnancy

Canda, Mehmet Tunç; Demir, Namık; Sezer, Orçun

doi:10.4274/balkanmedj.2016.0133

Cited by 4 publications

(4 citation statements)

References 16 publications

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“…Absence or hypoplasticity of NB has been considered as one of the strongest ultrasound markers for Down’s syndrome and other chromosomal abnormalities in the first and second trimester in previous studies ( Canda et al, 2017 ; Du Y et al, 2018 ; Bernardeco et al, 2022 ). In our present study, 27.81% (89/230) of fetuses with NBA were found to have chromosomal abnormalities, including 53 cases of trisomy 21, which was the most common type of chromosomal aneuploidy and accounted for 59.55% (53/89) of all abnormalities detected.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Li,

Yao,

Zhang

et al. 2023

Front. Genet.

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Object: To investigate the chromosome abnormalities associated with absent or hypoplastic fetal nasal bone.Methods: Patients with fetal nasal bone anomalies (NBA) referred to our center for prenatal diagnosis between 2017 and 2021 were retrospectively evaluated. All these patients underwent chromosomal microarray and/or karyotyping and received genetic counseling before and after testing.Results: Among 320 fetuses with NBA, chromosomal abnormalities were diagnosed in 89 (27.8%) cases, including 53 cases of trisomy 21, which was the most common type of chromosomal aneuploidy, accounting for 59.6% of all detected abnormalities. In addition to aneuploidies, 29 cases of copy number variants (CNVs) were detected. In cases of isolated NBA with low-risk screening results and without other risk factors, the incidence of fetal chromosomal aneuploidies and pathogenic CNVs is 5.3% (7 in 132 cases).Conclusion: This study suggests that parents of fetuses should be informed about the possibility of fetal aneuploidy and pathogenic CNVs and that discussion with the parents is also recommended, providing data support and reference for clinical counseling.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Li,

Yao,

Zhang

et al. 2023

Front. Genet.

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“…Canda и соавт. определили, что превышение длины носовой кости плода более 95-го перцентиля часто сочетается с ПИОВ (точность данного наблюдения составляет 94 %, p = 0,001), тогда как превышение 99-го перцентиля статистически значимо связано с преждевременными родами и маловодием (точность -95 %, p = 0,006; точность -97 %; p = 0,014 соответственно) [43].…”

Section: инструментальные методы оценки вероятности несвоевременного ...unclassified

Possibilities for predicting prelabor rupture of membranes

Mudrov

Андреевич²

2021

Z.akus.zen.bolezn

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Prelabor rupture of membranes occurs in 20% of all pregnancies, while in the structure of preterm labor it occurs in 40% of cases. Particular attention to prelabor rupture of membranes is primarily due to the risk of developing septic complications being increased as the duration of the anhydrous interval increases. Currently, there are no effective methods for preventing prelabor rupture of membranes. Therefore, the timeliness of prevention of fetal respiratory distress syndrome depends on the effectiveness of the prognosis of this condition. The aim of this study was to assess the possibilities for predicting prelabor rupture of membranes. This was achieved by using an analytical method including carrying out a detailed systematic analysis of modern domestic and foreign literature on predicting prelabor rupture of membranes. The study used databases such as eLIBRARY.RU, Scopus, PubMed, MEDLINE, ScienceDirect, Cochrane Library and FIPS from the creation until December 2020. An integrated approach to assessing the likelihood of prelabor rupture of membranes will allow optimizing the tactics of pregnancy and labor management, which in the future will reduce not only the incidence of maternal and perinatal morbidity, but also the frequency of operative delivery.

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“…Several studies have con rmed its close association with fetal chromosomal disorders, particularly trisomy 21 [2,6,7] , as well as adverse pregnancy outcomes and fetal or perinatal death. Recent studies have demonstrated that fetal nasal bone anomalies may serve as objective markers of dysmorphism associated with genomic abnormalities [8][9][10] , including large fragment deletions, duplications, and pathogenic copy number variations (P CNVs). However, the cohort included in the study was not su ciently large, and no grouping analysis was performed to examine the different trimesters when fetal nasal bone anomalies were detected.…”

Section: Introductionmentioning

confidence: 99%

Relationship Between the Timing of Fetal Nasal Bone Abnormalities and Fetal Chromosomal Anomalies: A Retrospective Study in a Chinese Cohort

Wei,

Pan，

et al. 2024

Preprint

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Objective: The primary objective of this study is to explore the potential correlation between the timing of fetal nasal bone abnormalities and the occurrence of fetal chromosomal anomalies. Nevertheless, there is a paucity of research addressing the possible relationship between the precise timing of nasal bone abnormalities and their correlation with the specific type and severity of chromosomal anomalies. Furthermore, the study aims to explore the synergistic utilization of copy number variation sequencing (CNV-seq) and chromosome karyotype analysis as a combined approach for prenatal diagnosis. Methods: This study enrolled a total of 128 women who were diagnosed with fetal nasal bone absence or hypoplasia and underwent prenatal diagnosis. Samples obtained through amniocentesis or cordocentesis were analyzed using CNV-seq and chromosome karyotype analysis. Follow-up was conducted for all cases. The timing of nasal bone abnormalities, gestational age at detection, and the types of chromosomal anomalies identified were analyzed and compared. Result： A total of 129 samples were collected. Chromosomal anomalies were detected in 20 cases (15.75%) out of 127, comprising 17 cases of aneuploid abnormality, 1 case of structural abnormality, and 2 cases of large fragment duplication. CNV-seq identified 4 additional cases of pathogenic copy number variations and 9 cases of uncertain significance copy number variations (VUS), increasing the detection rate of chromosome abnormalities to 24.03% (31/129). Ultrasound identified nasal bone anomalies in 77 fetuses during both the first and second trimesters (Group 1) and in 52 fetuses during the second trimester (Group 2). Group 1 exhibited a significantly higher prevalence of genomic abnormalities compared to Group 2 [31.27% (24/77) vs 13.46% (7/52), χ2=5.331, P＜0.05]. Furthermore, a significant difference was observed in the incidence of chromosomal abnormalities between cases of solitary nasal bone anomaly and those with combined nasal bone anomalies [14.46% (12/83) vs 41.30% (19/46), χ2=11.685, P＜0.01]. However, no significant difference was found in the incidence of chromosomal abnormalities between fetuses with nasal bone absence and those with nasal bone hypoplasia [27.96% (26/93) vs 13.89% (5/36), χ2=2.814, P＞0.05]. Ultrasonography conducted during both the early and second trimesters revealed that fetuses exhibiting abnormal nasal bone development were at a higher risk of chromosomal abnormalities compared to those where abnormal nasal bone development was first detected in the second trimester. Fetal nasal bone anomaly should be regarded as a significant marker for prenatal diagnosis and utilized as the foundation for additional testing, especially when combined with other soft markers or structural abnormalities that significantly elevate the probability of chromosomal abnormalities. The combination of chromosome karyotype analysis and CNV-seq should be employed to improve diagnostic accuracy and furnish supplementary information for evaluating fetal prognosis. Conclusion: This study sheds light on the potential relationship between the timing of fetal nasal bone abnormalities and fetal chromosomal anomalies. The findings have implications for antenatal screening and diagnostic strategies, emphasizing the importance of considering both the presence of the nasal bone and its timing when evaluating the risk of chromosomal anomalies. Further research is warranted to confirm and extend these preliminary findings, potentially enhancing the accuracy and effectiveness of prenatal screening programs.

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Fetal Nasal Bone Length as a Novel Marker for Prediction of Adverse Perinatal Outcomes in the First-Trimester of Pregnancy

Cited by 4 publications

References 16 publications

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Possibilities for predicting prelabor rupture of membranes

Relationship Between the Timing of Fetal Nasal Bone Abnormalities and Fetal Chromosomal Anomalies: A Retrospective Study in a Chinese Cohort

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