Background: Fetalhyperechogenickidneys (HEK)are associated with a wide range of etiologies and prognoses. Prenatal counselling and management can be extremely challenging, especially for isolated HEK.
Methods: A total of 28 pregnancies were screened by ultrasonography with HEK from March 1, 2016 to December 31, 2020. Genetic testings for aneuploidy and copy number variations (CNVs) are routine during the investigation for etiologies of fetal HEK in our unit. Trio-whole exome sequencing(WES) was offered to the family when karyotyping and microarray were not diagnostic.A systematic review (SR) was conducted to use the authoritative literature retrieval databases describing genetic testings' results in prenatal HEK cases.
Results: In the 28 HEK fetuses, 2 (7.14%) cases were identified with chromosome abnormalities and 6 (21.43%) cases were detected with pathogenic CNVs. Through trio-WES analysis, pathogenic or likely pathogenic variations were detected in the following genes: PKD1, BBS2, BBS9, HNF1B, PKHD1 and ETFA in another 10 (35.71%) fetuses. And the remaining 10 (35.71%) cases were undiagnosed. The pooled data from all reviewed studies indicate that HNF1B gene heterozygous deletion or mutation are the most common genetic causes associated with HEK.
Conclusion: This is the first study to accurately describe the genotype ratio at different levels of genetic testing associated with fetal HEK. Our study has suggested that trio-WES could improve the detection rate and efficiency ofidentification genetic pathologies in fetuseswith isolated HEK. The WES results provide new evidences to guide prenatal counseling and management.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.cca.2022.01.012 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rare dysfunctional SCN2A variants are associated with malformation of cortical development.
Epilepsia
December 2024
Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Objective: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders.
View Article and Find Full Text PDFAre Δ-Tetrahydrocannabinol and Its Major Metabolites Substrates or Inhibitors of Placental or Human Hepatic Drug Solute-Carrier Transporters?
Int J Mol Sci
November 2024
Department of Pharmaceutics, School of Pharmacy, University of Washington, Seattle, WA 98195, USA.
Article Synopsis
- Δ-Tetrahydrocannabinol (THC) is the main psychoactive ingredient in cannabis, and its usage among pregnant individuals is rising, leading to concerns about fetal exposure.
- Research indicates that fetal THC exposure is significantly lower than maternal levels due to a specific placental transporter that actively reduces THC transfer to the fetus, although the exact identity of this transporter remains unknown.
- In lab studies, it was discovered that THC and its metabolite THC-COOH acted as substrates for certain liver transporters but were not inhibitors, highlighting the complexity of THC metabolism and transport in the body.
Contribution of Genomic Imbalance in Prenatal Congenital Anomalies of the Kidney and Urinary Tract: A Multi-Center Cohort Study.
Prenat Diagn
November 2024
Maternal-Fetal Medicine Institute, Bao'an Maternity and Child Health Hospital Affiliated to Jinan University School of Medicine, Key Laboratory of Birth Defects Research, Birth Defects Prevention Research and Transformation Team, Shenzhen, China.
Objectives: To investigate the diagnostic utility of copy-number variant (CNV) detection by chromosomal microarray analysis (CMA) and genotype-phenotype associations in prenatal congenital anomalies of the kidney and urinary tract (CAKUT).
Methods: This is a retrospective multi-center study of CNV analysis in 457 fetuses with ultrasound-detected CAKUT and normal karyotypes. Cohorts from published studies were included for further pooled analyses (N = 2746).
Intra-amniotic delivery of tropomodulin 3 rescues cell apoptosis induced by miR-200b-3p upregulation via non-canonical nuclear factor kappa B pathways in ethylene thiourea induced anorectal malformations fetal rat.
Ecotoxicol Environ Saf
October 2024
Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China; Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China. Electronic address:
Ethylene thiourea (ETU), a metabolite of the fungicide ethylene bisdithiocarbamate (EBDC), has received great concern because of its harmful effects. ETU-induced anorectal malformations (ARMs) in rat models have been reported and widely used in the study of ARMs embryogenesis. Dysplasia of the lumbosacral spinal cord (LSSC), pelvic floor muscles (PFMs), and hindgut (HG) during intrauterine life affects postoperative defecation in patients with ARMs.
View Article and Find Full Text PDFFour novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
BMC Med Genomics
July 2024
Department of Nephrology, Peking University Shenzhen Hospital, Futian, Shenzhen, Guangdong, 518036, China.
Background: Alport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by damage to the eyes, ears and kidneys. Diagnosis of AS is hampered by its atypical clinical picture, particularly when the typical features, include persistent hematuria and microscopic changes in the glomerular basement membrane (GBM), are the only clinical manifestations in the patient.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!