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Observational Study
. 2024 May;116(5):e2348.
doi: 10.1002/bdr2.2348.

Absent or hypoplastic nasal bone: What to tell the prospective parents?

Shreya Das  1 , Charu Sharma  1 , Taruna Yadav  2 , Kalika Dubey  1 , Shashank Shekhar  1 , Pratibha Singh  1 , Kuldeep Singh  3 , Meenakshi Gothwal  1 , Manisha Jhirwal  1 , Dolat Singh Shekhawat  3
Affiliations
Observational Study

Absent or hypoplastic nasal bone: What to tell the prospective parents?

Shreya Das et al. Birth Defects Res. 2024 May.

Abstract

Background: Absent or hypoplastic nasal bone (AHNB) on first or second-trimester ultrasonography (USG) is an important soft marker of Down syndrome. However, due to its varied incidence in euploid and aneuploid fetuses, there is always a dilemma of whether to go for invasive fetal testing for isolated AHNB. This study aims to assess outcomes specifically within the context of Indian ethnicity women.

Materials and methods: This was a prospective observational study. All patients who reported with AHNB in the first- or second-trimester USG were included. Genetic counseling was done, and noninvasive and invasive testing was offered. Chromosomal anomalies were meticulously recorded, and pregnancy was monitored.

Results: The incidence of AHNB in our study was 1.16% (47/4051). Out of 47 women with AHNB, the isolated condition was seen in 32 (0.78%) cases, while AHNB with structural anomalies was seen in nine cases (0.22%). Thirty-nine women opted for invasive testing. Six out of 47 had aneuploidy (12.7%), while two euploid cases (4.25%) developed nonimmune hydrops. The prevalence of Down syndrome in fetuses with AHNB was 8.5% (4/47) and 0.42% (17/4004) in fetuses with nasal bone present. This difference was statistically significant (p = .001).

Conclusion: The results indicate that isolated AHNB cases should be followed by a comprehensive anomaly scan rather than immediately recommending invasive testing. However, invasive testing is required when AHNB is associated with other soft markers or abnormalities. As chromosomal microarray is more sensitive than standard karyotype in detecting chromosomal aberrations, it should be chosen over karyotype.

Keywords: Down syndrome (DS); absent or hypoplastic nasal bone; amniocentesis; aneuploidy; karyotype; microarray; soft markers.

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References

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