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Article
An Incidental Detection of a Rare UPD in SNP-Array Based PGT-SR: A Case Report
Uniparental disomies (UPD) refers to the inheritance of both homologs of a chromosome from only one parent with no representative copy from the other parent. UPD was with an estimated prevalence of 0.15‰ in po...
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Article
Open AccessSelective feticide in dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane before 24 weeks may be a safe therapeutic alternative to ongoing pregnancy
To date, there are no clinical guidelines for dichorionic diamniotic (DCDA) twins complicated with previable premature rupture of membrane (PV-ROM) before 24 weeks of gestation. The typical management options ...
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Article
Open AccessPrenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clini...
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Article
Open AccessContribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study
The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especiall...
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Article
Open AccessIntertwin nuchal translucency difference predicts the chance of co-twin death after fetal reduction in dichorionic triplet pregnancies: a retrospective analysis study
To compare the clinical outcomes of different multifetal pregnancy reduction (MFPR) programs in dichorionic (DC) triplets, and explore the association between early ultrasound characteristics and co-twin death...
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Article
Open AccessIs an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses?
This study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal m...
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Article
Open AccessFGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset
Achondroplasia is a well-defined and common bone dysplasia. Genotype- and phenotype-level correlations have been found between the clinical symptoms of achondroplasia and achondroplasia-specific FGFR3 mutations.
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Article
Selective and non-selective intrauterine growth restriction in twin pregnancies: high-risk factors and perinatal outcome
To evaluate the high-risk factors and perinatal outcome in selective intrauterine growth restriction (sIUGR) and non-selective IUGR (non-sIUGR) in twins.
