Prenatal diagnosis of submicroscopic chromosomal aberrations in fetuses with congenital cystic adenomatoid...

To explore the copy number variations (CNVs) of fetal congenital cystic adenomatoid malformation (CCAM).

Fetuses with CCAM were investigated by karyotypes and chromosomal microarray analysis (CMA). The cases were classified as isolated or CCAM with additional structural anomalies. The pregnancy outcome and neonatal prognosis were reported after the follow-up investigation.

The karyotypes of 43 fetuses were analyzed and no abnormal karyotype was detected. Thirty-seven cases were further tested using CMA. The CMA identified pathogenic CNVs in three fetuses with a pathogenic detection rate of 8.1%. Well-known microdeletion or microduplication syndromes, including RCAD syndrome, HNPP, and CMT1A were identified, among which HNPP and CMT1A were incidental findings. After excluding two incidental findings, there were no pathogenic CNVs in isolated CCAM. There were no significant differences in pathogenic CNVs between isolated CCAM and CCAM with additional structural anomalies (0%, 0/31 versus 16.7%, 1/6, p=.162). Nearly half of the patients (53.8%, 14/26) underwent surgery after birth with good postoperative recoveries while the remaining half patients were spontaneous regression or asymptomatic.

The results demonstrated the value of CMA in the prenatal diagnosis of CCAM. CCAM associated with other structural defects enhanced the frequency of pathogenic CNVs while isolated CCAM may not be associated with an increase in the prevalence of pathogenic CNVs. CCAMs have an overall good prognosis.