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

Shreya DasCharu SharmaTaruna YadavKalika DubeyShashank ShekharPratibha SinghKuldeep SinghMeenakshi GothwalManisha JhirwalDolat Singh Shekhawat
Published in: Birth defects research (2024)
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.
Keyphrases
  • copy number
  • computed tomography
  • soft tissue
  • magnetic resonance imaging
  • bone loss