Chromosome karyotype and microarray analysis of 109 cases of fetal nasal hypoplasia

GUO Li; HE Yi-qun; HUANG Hua-mei; ZHANG Qi; LU Jian; CHEN Han-biao; WANG Ting; YIN Ai-hua

doi:10.13820/j.cnki.gdyx.20185267

Abstract：Objective To investigate the correlations between fetal nasal hypoplasia and chromosome G banding and chromosomal microarray analysis (CMA). Methods The data of 109 pregnant women with fetal nasal hypoplasia according to prenatal ultrasound screening were analyzed. The fetal chromosome G banding and CMA were investigated. The pregnant women were divided into two groups according to the length of fetal nasal bone, the absence group and the hypoplasia group. Meanwhile, the participants were also assigned into the simple group and the combined group, according to the fetus whether associated with other soft markers or structural abnormalities by prenatal ultrasound screening. G banding and CMA analysis were performed in all pregnant women by invasive prenatal diagnosis. Results Chromosome abnormalities were detected in 31 cases (28.44％, 31/109). Chromosomal abnormalities in the absence group and the hypoplasia group were 36％ (18/50) and 22.03％ (13/59), respectively. There was no significant difference between the two groups (P＞0.05). Chromosomes abnormalities were 20％ (11/55) and 37.04％ (20/54) in the simple group and the combined group, respectively. The difference between the two groups was statistically significant (P＜0.05). 3 cases of Wolf-Hirschhorn syndrome were found in the combined group. Conclusion Fetal nasal hypoplasia is closely correlated to fetal chromosomal abnormalities. There is no significant difference between nasal hypoplasia and absence. When the fetus are combined with other soft markers or structural abnormalities, invasive prenatal diagnosis is recommended.