Abstract
Applying single nucleotide polymorphism (SNP) array to identify the etiology of fetal central nervous system (CNS) abnormality, and exploring its association with chromosomal abnormalities, copy number variations, and obstetrical outcome. 535 fetuses with CNS abnormalities were analyzed using karyotype analysis and SNP array. Among the 535 fetuses with CNS abnormalities, chromosomal abnormalities were detected in 36 (6.7%) of the fetuses, which were consistent with karyotype analysis. Further, additional 41 fetuses with abnormal copy number variations (CNVs) were detected using SNP array (the detection rate of additional abnormal CNVs was 7.7%). The rate of chromosomal abnormalities, but not that of pathogenic CNVs in CNS abnormalities with other ultrasound abnormalities was significantly higher than that in isolated CNS abnormalities. The rates of chromosomal abnormalities and pathogenic CNVs in fetuses with spine malformation (50%), encephalocele (50%), subependymal cyst (20%), and microcephaly (16.7%) were higher than those with other isolated CNS abnormalities. The pregnancies for 36 cases with chromosomal abnormalities, 18 cases with pathogenic CNVs, and three cases with VUS CNVs were terminated. SNP array should be used in the prenatal diagnosis of fetuses with CNS abnormalities, which can enable better prenatal assessment and genetic counseling, and affect obstetrical outcomes.
Highlights
Fetal central nervous system (CNS) abnormality is one of the most common fetal congenital malformations, and its incidence rate is about 1% (Onkar et al, 2014)
The main factor leading to the malformation of the central nervous system may be genetic
Fetuses with CNS abnormalities have a poor prognosis with serious consequences, and due to their disabling nature, they pose a great burden to individuals, families, and society after birth
Summary
Fetal central nervous system (CNS) abnormality is one of the most common fetal congenital malformations, and its incidence rate is about 1% (Onkar et al, 2014). The etiology and mechanisms of fetal CNS abnormality are still unknown. A previous study has reported that about 40% of the pathogenic factors may be environmental and genetic (Huang et al, 2012). CNS abnormalities represent a broad clinical spectrum, including mild ventricular enlargement, posterior fossa widening, hydrocephaly, agenesis of the corpus callosum (ACC), and holoprosencephaly (Hadzagic-Catibusicet al., 2008). With the development of prenatal ultrasound, most fetal CNS abnormalities are found in prenatal ultrasonic examination. Fetuses with abnormal ultrasound are usually recommended to undergo invasive prenatal diagnosis, in order to determine whether they have genetic anomalies, to identify possible etiology, and assess the prognosis of the fetus
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