Nasal bone in fetal aneuploidy risk assessment: are they independent markers in the first and second trimesters?

Bernardeco, J.; Cruz, Jader; Rijo, Cláudia; Cohen, Álvaro

doi:10.1515/jpm-2021-0562

Cited by 3 publications

(3 citation statements)

References 27 publications

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“…[16][17][18][19][20] The current prospective observational study performed to determine the diagnostic validity of second trimester fetal A retrospective study performed by Bernardeco et al reported that the NBL in the first and second trimesters was associated with aneuploidy. 21 A study conducted in the Thai population reported statistically significant differences in the NBL, PNT, and NBL/PNT ratio between normal and DS fetuses, which is in consonance with the current study reports. 22 A retrospective study by Vos et al in the Netherlands reported the correlation coefficient of NBL and PNT against GA as 0.69 and 0.74, which is closely aligned with the findings of the current study.…”

Section: Discussionsupporting

confidence: 92%

Role of Fetal Second Trimester 2D Ultrasound Facial Parameters in Down Syndrome Detection

Mylavarapu,

Singh,

Kolar

2024

Journal of Fetal Medicine

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Introduction Down syndrome (DS) is the most common genetic cause of intellectual disability in humans. Various screening techniques are available, including the detection of facial characteristics of DS fetuses by prenatal ultrasonographic markers. Very few studies have tested the predictive validity of the markers in the Indian population. Objective This article determines the role of second trimester ultrasound in predicting DS using facial markers, namely, nasal bone length (NBL), prenasal thickness (PNT), NBL/PNT ratio, and PNT/NBL ratio in the Indian population Materials and Methods This prospective observational study recruited singleton pregnant women at 14 to 28 weeks of gestation with no comorbidities. Women with maternal disorders, abnormal amniotic fluid, and fetal structural anomalies were excluded. Three images of the midsagittal plane were obtained during a routine anomaly or well-being scan. The single “best” image was used for analysis. Scatter plots with regression lines and percentile curves for each gestation were created. Developed nomograms and scattered plots were validated by recruiting DS fetuses (diagnosed by amniocentesis and fetal karyotype). Results This study included 450 normal fetuses for developing nomograms, which were verified by matching 45 DS fetuses. The diagnostic accuracy of NBL, PNT, NBL/PNT ratios and PNT/NBL ratios was found to be 94, 99, 95, and 94.8, respectively. Sensitivity and specificity were found to be 51.11, 42.42, 48.89, 65.4 and 99, 96, 99.56, and 96.7 for NBL, PNT, NBL/PNT ratio, and PNT/NBL ratio, respectively. False negative rate and false positive rate were 38.89, 57.58, 51.11, 34.6 and 1, 4, 0.44, 3.3 for NBL, PNT, NBL/PNT ratio, PNT/NBL ratio, respectively. Conclusion High diagnostic accuracy was found for PNT, followed by NBL/PNT ratio, PNT/NBL ratio, and NBL. However, considering sensitivity and specificity markers together, we found the NBL/PNT ratio as a good diagnostic marker in predicting DS. Furthermore, the NBL/PNT ratio performs slightly better than its inverse counterpart (PNT/NBL ratio) for detecting DS fetuses, primarily because it produced less false positive cases.

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Section: Discussionsupporting

confidence: 92%

Role of Fetal Second Trimester 2D Ultrasound Facial Parameters in Down Syndrome Detection

Mylavarapu,

Singh,

Kolar

2024

Journal of Fetal Medicine

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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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“…Some of the fetuses evaluated as nasal bone aplasia in the first trimester ultrasonography can be considered as nasal bone hypoplasia cases in the second trimester ultrasonography. 7 For this reason, while it is recommended to evaluate the presence of nasal bone in the first trimester in all pregnant women, nasal bone measurement is recommended in the second trimester ultrasonography. Invasive procedures are also recommended for definitive diagnosis of chromosomal abnormalities in the absence or hypoplasia of nasal bone.…”

Section: Second Trimester Fetal Nasal Bone Length Measurement: a Sing...mentioning

confidence: 99%

Second Trimester Fetal Nasal Bone Length Measurement: A Single Center Study and National Data Review

BOZBAY,

AVCI,

ÖRGÜL

2023

J Clin Obstet Gynecol

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To evaluate second trimester fetal nasal length measurement results in healthy singleton pregnancies in Turkey. Material and Methods: We analyzed the nasal bone lengths within 19-24 weeks in 661 pregnancies in our hospital. All pregnant women with a single healthy fetus who applied to our perinatology outpatient clinic for detailed obstetric ultrasonography were included in the study. All measurements were performed by the same clinician during routine mid-trimester ultrasound scan. Only the patients who were considered healthy by the examining pediatrician were included in the study. The parents of all fetuses are of Turkish ethnicity. Pearson correlation, regression analysis and P value were calculated between gestational week and nasal bone length. Results: Mean nasal length measurement was 6

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Nasal bone in fetal aneuploidy risk assessment: are they independent markers in the first and second trimesters?

Cited by 3 publications

References 27 publications

Role of Fetal Second Trimester 2D Ultrasound Facial Parameters in Down Syndrome Detection

Role of Fetal Second Trimester 2D Ultrasound Facial Parameters in Down Syndrome Detection

Prenatal diagnosis and outcomes in 320 fetuses with nasal bone anomalies

Second Trimester Fetal Nasal Bone Length Measurement: A Single Center Study and National Data Review

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