BackgroundCongenital hydrocephalus is a descriptive diagnosis of symptoms, that are present for numerous reasons, including chromosomal disorders, genetic mutations, intrauterine infection and hemorrhage, amongst other factors. Mutation of L1CAM gene is the most frequent cause of congenital hydrocephalus, contributing to approximately 30% of X‐linked congenital hydrocephalus.MethodsIn the present study, we used whole‐exome sequencing and Sanger sequencing to investigate an aborted male fetus present with severe congenital hydrocephalus at 24 weeks of gestation, whose mother had a history of two previous voluntary terminations of pregnancies as a result of hydrocephalus. Magnetic resonance imaging, an autopsy and electron microscopy were performed and the phenotypic changes were described.ResultsWhole‐exome sequencing in the fetus, as well as variant segregation analysis, revealed a novel maternally derived hemizygous nonsense mutation (c.2865G>A; p. Y955*) in exon 21 of the L1CAM gene (NM_000425.4). Severe hydrocephalus was observed along with marked dilatation of lateral ventricles. An electron micrograph of the surface of lateral ventricle walls revealed a lack of ependymal cilia.ConclusionThe present study suggests that L1CAM mutation screening should be considered for a male fetus with isolated hydrocephalus, especially with a family history, which could facilitate prenatal diagnosis in a subsequent pregnancy.
Dear Editor, Antenatal hydronephrosis (ANH) is the most common congenital anomaly of the urinary tract. Pregnancy outcome and fetal prognosis are closely related to the severity of ANH. 1 Approximately 15%−20% of children with ANH result in postnatal renal obstruction, which will lead to rapid deterioration of renal function. 2 Parameters measured by prenatal ultrasonography (US), especially fetal anteroposterior renal pelvic diameter (APD/APRPD), are used as the most predictive indicators to detect and diagnose ANH. 3 However, US tend to be progressive and F I G U R E 1 Verification of the identity of sEVs isolated from amniotic fluid. (A) Transmission electron microscopy (TEM) images of sEVs combined with SEC and UC. (B) NTA detection of sEVs enriched from AF, approximately 75-200 nm in diameter. (C) EV markers CD9, CD63 and Alix detection in the sEVs isolated from amniotic fluid, and Calnexin, a negative marker of EV, was absent in our isolated sEVs. Jingzhi Li and Ying Fu contributed equally to this work.
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