Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Zhang, Feng; Long, Wei; Zhou, Qin; Wang, Jing; Shi, Ye; Li, Jianbing; Wang, Qiuwei

doi:10.2147/ijgm.s322359

Cited by 9 publications

(18 citation statements)

References 31 publications

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“…The second limitation is the lack of autopsy and Cleidocranial dysplasia (MIM 119600) is characterized by hypoplastic/aplastic clavicles, a brachycephalic skull, midfacial hypoplasia with a low nasal bridge, abnormal tooth development and other skeletal abnormalities. Prenatal diagnosis of cleidocranial dysplasia has been described in several reports [11,25]. Chen et al described a case of cleidocranial dysplasia, associated with nasal bone hypoplasia; the fetus demonstrated mild shortness of the femur and absence of a nasal bone at 22-and 31-weeks gestation.…”

Section: Discussionmentioning

confidence: 99%

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Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Moczulska

Serafin

Wojda

et al. 2022

JCM

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Nasal bone hypoplasia is associated with a trisomy of chromosome 21, 18 or 13. Nasal bone hypoplasia can also be seen in other, rarer genetic syndromes. The aim of the study was to evaluate the potential of nasal bone hypoplasia, in the second trimester of pregnancy, as a marker of fetal facial dysmorphism, associated with pathogenic copy number variation (CNV). This retrospective analysis of the invasive tests results in fetuses with nasal bone hypoplasia, after excluding those with trisomy 21, 18 and 13. In total, 60 cases with nasal bone hypoplasia were analyzed. Chromosomal aberrations were found in 7.1% of cases of isolated nasal bone hypoplasia, and in 57% of cases of nasal bone hypoplasia with additional malformations. Additionally, in four of nine cases with non-isolated nasal bone hypoplasia but normal CMA results, a monogenic disease was diagnosed. Non-isolated hypoplastic nasal bone appears to be an effective objective marker of fetal facial dysmorphism, associated with pathogenic CNVs or monogenic diseases. In isolated cases, chromosomal microarray testing can be of additional value if invasive testing is performed, e.g., for aneuploidy testing after appropriate counseling.

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Section: Discussionmentioning

confidence: 99%

“…After excluding trisomy 21, the incidence of CNV in this group was 7.4%. In addition, monogenic diseases were diagnosed in two other cases: cleidocranial dysplasia and Sifrim-Hitz-Weiss syndrome [ 11 ]. In our study, out of the three abnormal CMA results, one was a variant of unknown significance and one was potentially pathogenic.…”

Section: Discussionmentioning

confidence: 99%

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Moczulska

Serafin

Wojda

et al. 2022

JCM

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“…In a cohort of fetuses presenting isolated and non-isolated genitourinary anomalies, the diagnostic rate was 12% [235], whereas in another paper, the diagnostic rate was 7% [237]. In one recent paper analyzing fetuses with isolated hypoplastic/absent nasal bone, the diagnostic rate was 17% [277] (Table S4). Concerning IFs, 6 of the selected papers in Group A and 14 papers in Group B explicitly reported IFs (Tables S3 and S4).…”

Section: Exome Sequencingmentioning

confidence: 97%

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

et al. 2022

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Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasound findings. Anomalies not fitting these definitions are categorized as “dynamic”. This meta-analysis aims to evaluate the diagnostic yield and the rates of variants of uncertain significance (VUSs) in fetuses undergoing molecular testing (chromosomal microarray (CMA), exome sequencing (ES), genome sequencing (WGS)) due to ultrasound findings. The CMA diagnostic yield was 2.15% in single soft markers (vs. 0.79% baseline risk), 3.44% in multiple soft markers, 3.66% in single structural anomalies and 8.57% in multiple structural anomalies. Rates for specific subcategories vary significantly. ES showed a diagnostic rate of 19.47%, reaching 27.47% in multiple structural anomalies. WGS data did not allow meta-analysis. In fetal structural anomalies, CMA is a first-tier test, but should be integrated with karyotype and parental segregations. In this class of fetuses, ES presents a very high incremental yield, with a significant VUSs burden, so we encourage its use in selected cases. Soft markers present heterogeneous CMA results from each other, some of them with risks comparable to structural anomalies, and would benefit from molecular analysis. The diagnostic rate of multiple soft markers poses a solid indication to CMA.

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“…In contrast, Gu et al. reported their tertiary-centre experience with isolated hypoplastic NB and found a non-trisomy-21 abnormality in 2 of the 39 foetuses, resulting in a frequency of pathogenic CNVs in isolated hypoplastic NB of 5.1% [ 15 ]. Du et al.…”

Section: Discussionmentioning

confidence: 99%

“…studied 80 cases of isolated hypoplastic foetal NB and showed no cases of pathogenic copy number variations (CNVs) detected [ 14 ]. However, recent study with small sample size reported that the rate of pathogenic CNVs was 5.45% (3/55) in the foetuses with isolated absence or hypoplasia NB [ 15 ]. As a result, should CMA be offered to isolated absent or hypoplastic foetal NB remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone

Shi

Lü

et al. 2022

Annals of Medicine

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Objectives To evaluate the efficiency of chromosomal microarray analysis (CMA) in the prenatal diagnosis of foetuses with isolated absent or hypoplastic nasal bone (NB) in the first and second trimester. Methods From January 2015 to April 2021, foetuses with isolated absent or hypoplastic NB who received invasive prenatal diagnosis were enrolled. The results of CMA were analysed Results There were 221 foetuses, including 166 cases with isolated absent NB and 55 cases with isolated hypoplastic NB. Twenty-four foetuses (10.9%, 24/221) had an ultrasonic diagnosis in the first trimester and 197 (89.1%, 197/221) had a ultrasonic diagnosis in the second trimester. The overall diagnostic yield of CMA was 9.0% (20/221). Aneuploidies were detected in 13 (5.9%, 13/221) foetuses, including 10 Down syndrome, 2 Klinefelter's syndrome and 1 trisomy 18. Pathogenic copy number variations (CNVs) were detected in seven foetuses (3.2%, 7/221). In addition, variants of unknown significance (VOUS) were detected in four foetuses. The foetuses with isolated absent NB had a higher detection rate of chromosome abnormality than the isolated hypoplastic NB, but the difference was not significant in the statistical analysis (10.2% vs. 5.5%, χ 2 =0.642, p = .423). No significant difference was observed in the detection rate between the first trimester and the second trimester (16.6% vs. 8.1%, χ 2 = 1.002, p = .317, Chi-square test). Conclusion CMA can increase the diagnostic yield of chromosome abnormality, especially pathogenic CNVs for foetuses with isolated absent or hypoplastic NB. CMA should be recommended when isolated absent or hypoplastic NB is suspected antenatally.7

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Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Cited by 9 publications

References 31 publications

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis

Prenatal chromosomal microarray analysis in foetuses with isolated absent or hypoplastic nasal bone

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