Abstract
The association between genetics and fetuses with ventriculomegaly (VM) is unknown. This study aimed to classify and evaluate abnormal copy number variations (CNVs) in fetuses with VM. From December 2016 to September 2020, amniotic fluid or umbilical cord blood from 293 pregnant women carrying fetuses with VM was extracted for single-nucleotide polymorphism microarray (SNP array). Among 293 fetuses with VM, 31 were detected with abnormal CNVs, including 22 with pathogenic CNVs (7.51%) and nine with variation of uncertain clinical significance (VUS) CNVs (3.07%). Of the 22 fetuses with pathogenic CNVs, 13 had known disease syndromes. Among the 293 fetuses, 133 had mild isolated VM [pathogenic CNVs, 7/133 (5.26%)]; 142 had mild non-isolated VM [pathogenic CNVs, 13/142 (9.15%)]; 12 had severe isolated VM [pathogenic CNVs, 2/12 (16.67%)]; and six had severe non-isolated VM (no abnormal CNVs was detected). There was no statistical significance in the rate of pathogenic CNVs among the four groups (P = 0.326, P > 0.05). Among the 267 fetuses with successful follow-up, 38 were terminated (of these, 21 had pathogenic CNVs). Of the 229 fetuses, two had developmental delay and the remaining 227 had a good prognosis after birth. Overall, the results are useful for the detection of fetal microdeletion/microduplication syndrome and for the accurate assessment of fetal prognosis in prenatal consultation.
Highlights
(VM) is the most common abnormality observed on prenatal ultrasound (Salomon et al, 2010), and the reported incidence of VM is 0.03 to 2.20% (D’Addario et al, 2007)
There was no statistical significance in the rate of pathogenic copy number variations (CNVs) among the four groups (P = 0.326, P > 0.05)
De novo CNVs were found in seven fetuses, one fetus was found to have a 1.3-MB duplication in the 16p13.11 region originating from a paternal mutation, and one case had a 1.5-Mb duplication on chromosome 17 originating from a maternal mutation (Table 2)
Summary
(VM) is the most common abnormality observed on prenatal ultrasound (Salomon et al, 2010), and the reported incidence of VM is 0.03 to 2.20% (D’Addario et al, 2007). According to the degree of broadening, VM is generally divided into two categories: mild (10–15 mm) and severe (≥15 mm) (Bloom and Bloom, 1998). The etiology of VM is relatively complex; this could be a normal phenotype or central nervous system abnormalities, such as abnormal development of the brain line structure or local space occupancy It may be a result of chromosomal abnormalities and virus infection, among others (Kelly et al, 2001; Weichert et al, 2010; Pagani et al, 2015)
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