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Hypoplastic nasal bone: A potential marker for facial dysmorphism associated with pathogenic copy number variants on
Ying Zhi Gu1, Deborah L Nisbet1,2, Karen L Reidy1,3
1Pauline Gandel Imaging Centre, The Royal Women's Hospital, Parkville, Australia.
Prenatal Diagnosis
|December 23, 2018
Summary
Chromosomal microarray analysis (CMA) significantly increases the detection of genetic abnormalities in fetuses with hypoplastic nasal bone. This genetic testing is recommended even with low-risk screening for common chromosomal issues.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal ultrasound
Background:
- Hypoplastic nasal bone is associated with trisomy 21.
- The diagnostic yield of genetic testing for isolated hypoplastic nasal bone requires further investigation.
Purpose of the Study:
- To compare the frequency of abnormal genetic diagnoses before and after the introduction of chromosomal microarray analysis (CMA).
- To evaluate if CMA provides additional clinically relevant information in cases of isolated hypoplastic nasal bone.
Main Methods:
- Retrospective analysis of 118 fetuses with hypoplastic nasal bone (16-37 weeks gestation) over 10 years.
- Comparison of genetic diagnoses between pre-CMA and post-CMA eras.
Main Results:
- Higher detection rate of pathogenic/potentially pathogenic karyotypes with CMA availability (52% vs 33%).
- Clinically relevant copy number variants (CNVs) identified in 10% of cases, including two with isolated hypoplastic nasal bone.
- Common aneuploidies accounted for 42% of abnormal diagnoses.
Conclusions:
- Hypoplastic nasal bone may indicate dysmorphism associated with clinically relevant CNVs beyond trisomy 21.
- Invasive genetic testing with CMA is supported for pregnancies with diagnosed hypoplastic nasal bone, regardless of initial screening results.
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