Application of chromosomal microarray analysis for fetuses with nasal bone agenesis or hypoplasia

To explore the utility of microarray technology in prenatal diagnosis of nasal bone agenesis or hypoplasia.

Between July 2018 to October 2023, several cases of abnormal nasal bone development were diagnosed via ultrasound at county and municipal maternal and child health institutes. During this interval, One hundred fetuses underwent prenatal diagnosis at Jinhua Maternal and Child Health Institute, with chromosome microarray analysis (CMA) and karyotyping recommended for intervention. Those declining such diagnostic intervention received non-invasive prenatal screening (NIPS) as an alternative.

Among the 100 pregnant women, 64 underwent invasive prenatal testing, and 15 cases (23.44%) were found to have chromosomal variation Numerical abnormalities accounted for 73.33%, structural abnormalities accounted for 13.33%, and polymorphic variations accounted for 13.33%. Among chromosomally normal fetuses, an additional 5 cases exhibited copy number variations (CNVs), including 1 case of pathological significance. Thirty-six participants received NIPS, and all results were low-risk. Analysis of nasal bone agenesis/hypoplasia was conducted and divided into solitary and non-solitary groups. The pathogenic abnormality rate of CMA in the two groups was 16.28% and 28.57%, respectively, with no statistical significance observed (P > 0.05). However, the pathogenic abnormality rates of CMA + NIPS were 9.09% and 26.09%, respectively, and the difference was statistically significant (P < 0.05).

Fetal nasal bone agenesis or hypoplasia is associated with chromosomal disorders. Notably, non-isolated nasal defects increase the risk of chromosomal alterations. Combined with CMA analysis, alterations caused by microdeletions or microinsertions can be detected. This approach can be used for clinical antenatal evaluation.