Dong‐Zhi Li
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View article: Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China
Prenatal diagnosis and perinatal outcomes of fetuses with congenital duodenal obstruction: A nine‐year retrospective study from China Open
Introduction Congenital duodenal obstruction (CDO) is one of the most common fetal gastrointestinal anomalies, but previous prenatal studies tend to investigate CDO as a portion of gastrointestinal obstruction. Few studies describe the gen…
View article: Prenatal Diagnosis of Extracardiac Malformations Caused by an <i>ACTC1</i> Variant Presented With Cystic Hygroma and Multiple Congenital Contractures
Prenatal Diagnosis of Extracardiac Malformations Caused by an <i>ACTC1</i> Variant Presented With Cystic Hygroma and Multiple Congenital Contractures Open
Key Points What's already known about this topic? What does this study add?
View article: Prenatal Diagnosis of X-Linked Chondrodysplasia Punctata 2 Presented with Calcific Stippling in Ribs and Postaxial Polydactyly Identified in the First Trimester: A Case Report
Prenatal Diagnosis of X-Linked Chondrodysplasia Punctata 2 Presented with Calcific Stippling in Ribs and Postaxial Polydactyly Identified in the First Trimester: A Case Report Open
X-linked chondrodysplasia punctata 2 (CDPX2) is a genetic disorder characterized by skeletal, cutaneous, and ophthalmic abnormalities. In this study, we present with a fetal case of CDPX2 which was identified in the first trimester by ultr…
View article: Prenatal Diagnosis of Rubinstein‐Taybi Syndrome—Reporting Twelve Cases of a Rare Disease
Prenatal Diagnosis of Rubinstein‐Taybi Syndrome—Reporting Twelve Cases of a Rare Disease Open
Objective To present the prenatal sonographic features and genomic spectrum of pregnancies with fetal Rubinstein‐Taybi syndrome (RSTS). Methods This was a retrospective study of 12 cases with RSTS with fetal features identified by prenatal…
View article: Machine learning-based radiomic nomogram from unenhanced computed tomography and clinical data predicts bowel resection in incarcerated inguinal hernia
Machine learning-based radiomic nomogram from unenhanced computed tomography and clinical data predicts bowel resection in incarcerated inguinal hernia Open
BACKGROUND Early identification of bowel resection risks is crucial for patients with incarcerated inguinal hernia (IIH). However, the prompt detection of these risks remains a significant challenge. Advancements in radiomic feature extrac…
View article: An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia—-SEA deletion
An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia—-SEA deletion Open
Four multi-species conserved sequences (MCSs) are important enhancers which affect α-globin expression. Deletions of MCS can cause α-thalassemia. So far, duplication of MCS has never been reported to account for thalassemia. In this study,…
View article: Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience
Exome Sequencing in Fetuses With Bilateral Renal Agenesis Identified on Second Trimester Ultrasound: A Single Referral Center Experience Open
Objective To determine the exome sequencing results in fetuses with bilateral renal agenesis (BRA). Methods This was a retrospective study of 14 cases with BRA diagnosed on second trimester anatomy ultrasound. All cases underwent invasive …
View article: Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center
Prenatal genetic investigation in pregnancies with oligohydramnios: Results from a single referral medical center Open
We provided further evidence of using advanced genetic approaches for oligohydramnios pregnancy. Non-isolated oligohydramnios increases the risk of having monogenetic conditions.
View article: Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature
Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature Open
Objective The recurrent 1q21.1 microdeletion syndrome is an autosomal dominant disorder and is characterized by dysmorphic facial features, microcephaly, developmental delay, and congenital defects. However, most studies on the distal dele…
View article: Whole‐genome sequencing: is it appropriate in prenatal setting?
Whole‐genome sequencing: is it appropriate in prenatal setting? Open
Linked article: This Correspondence comments on Westenius et al. Click here to view the article.
View article: Recurrent First-trimester Cystic Hygroma with Normal Chromosomes Identified in Two Cases with a Recessive Genetic Syndrome
Recurrent First-trimester Cystic Hygroma with Normal Chromosomes Identified in Two Cases with a Recessive Genetic Syndrome Open
First-trimester cystic hygroma (CH) was a frequent finding in a general obstetric screening program for fetal aneuploidy. Chromosomal abnormalities can be diagnosed in most cases with CH, especially common trisomies and Turner syndrome. Fo…
View article: Prognostic indicators for long‐term outcome of non‐immune hydrops fetalis
Prognostic indicators for long‐term outcome of non‐immune hydrops fetalis Open
Linked article: This Correspondence comments on Wu et al. Click here to view the article.
View article: The Association of Fetal Umbilical–portal–systemic Venous Shunts and Genetic Variants: Another Case Report
The Association of Fetal Umbilical–portal–systemic Venous Shunts and Genetic Variants: Another Case Report Open
Dear Editor, Congenital portosystemic venous shunts are vascular anomalies with communications between the portal venous system and the systemic venous circulation. They have been recognized as an important pediatric condition, but these v…
View article: Beckwith–Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele
Beckwith–Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele Open
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder caused by various genetic or epigenetic alterations involving growth regulatory genes located on chromosome 11p15.5 region. Conventionally, most cases of BWS are diagnosed during …
View article: Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center
Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center Open
Backgroud: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/CP) and the association between various types of CL/CP and copy number variations (CNVs), as well as their impact on …
View article: Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants
Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants Open
Hemophilia, an X-linked recessive disorder, is characterized by spontaneous or trauma-induced prolonged bleeding. It is classified as hemophilia A when caused by variants in the F8 gene, and hemophilia B when caused by F9 variants. Few stu…
View article: First report of a rare complex rearrangement in the α-globin gene cluster causing a novel 16.8Kb deletion
First report of a rare complex rearrangement in the α-globin gene cluster causing a novel 16.8Kb deletion Open
α-thalassemia major (α-TM) often causes Hb Bart’s (c4) hydrops fetalis and severe obstetric complications in the mother. Step-wise screening for couples at-risk of having offspring(s) affected by α-TM is the efficient prevention method but…
View article: Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing
Prenatal genetic diagnosis associated with fetal ventricular septal defect: an assessment based on chromosomal microarray analysis and exome sequencing Open
Objective: In the study, we investigated the genetic etiology of the ventricular septal defect (VSD) and comprehensively evaluated the diagnosis rate of prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) for VSD to pr…