Congmian Ren
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Epigenetic phenotype of plasma cell-free DNA in the prediction of early-onset preeclampsia Open
Pregnant women with early-onset preeclampsia exhibit DNA methylation and nucleosome positioning patterns in placental and plasma DNA.
Shortened fetal long bones: A notable intrauterine phenotypic feature in <i>SHOX</i>‐associated skeletal dysplasia Open
Objective To explore the intrauterine phenotypic spectrum of short stature homeobox‐containing ( SHOX ) gene‐associated skeletal dysplasia and provide genetic counseling at‐risk pregnancies. Method We analyzed the fetuses with SHOX ‐microd…
Epigenetic phenotype of plasma cell-free DNA in the prediction of early-onset preeclampsia Open
In the current study, we sought to characterise the methylation haplotypes and nucleosome positioning patterns of placental DNA and plasma cell-free DNA of pregnant women with early-onset preeclampsia using whole genome bisulphite sequenci…
Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis Open
Background Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between…
Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples Open
In case non-specific indicators such as fetal macrosomia, polyhydramnios and rhizomelic limbs shortening are observed meanwhile in prenatal ultrasound, targeted detection of PKS should be considered. In the prenatal diagnosis of PKS, the c…