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Case Report: Prenatal diagnosis of novel compound heterozygous variants in gene causing short-rib thoracic dysplasia 7 with or without polydactyly.
Front Pediatr
January 2025
Department of Neurology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Background: Whole exome sequencing (WES) technology has been increasingly used for the etiological diagnosis of fetuses with ultrasound anomalies. In this article, we report a novel deletion compound combined with a causative variant in gene leading to short-rib thoracic dysplasia 7 (SRTD7) with or without polydactyly using WES.
Methods: This study involved a Chinese fetus with clinical features of skeletal dysplasia on ultrasound imaging, in whom chromosome abnormalities and copy number variants (CNVs) were detected by chromosomal microarray analysis (CMA), and sequence variants were detected by WES.
Fetal Cardiac Function and Remodeling in In Vitro Fertilization Pregnancies: A Tertiary Center Experience.
Echocardiography
February 2025
Department of Obstetrics and Gynecology, Ministry of Health, Ankara City Hospital, Ankara, Turkey.
Purpose: To investigate fetal cardiac functions and remodeling in pregnancies conceived via in vitro fertilization (IVF).
Methods: This prospective case-control study included 40 singleton IVF pregnancies and 46 uncomplicated control pregnancies at 28-36 weeks of gestation. The IVF group consisted of pregnancies applied to the outpatient clinic, excluding those with anatomical or chromosomal abnormalities.
Third-trimester resolution of low placentation and risk of postpartum hemorrhage.
Eur J Obstet Gynecol Reprod Biol
January 2025
Montefiore Medical Center/Albert Einstein College of Medicine, Division of Fetal Medicine and Ultrasound, Department of Obstetrics and Gynecology and Women's Health.
Objective: Low placentation is associated with increased risk of postpartum hemorrhage (PPH). There is a paucity of data on the association between second trimester low placentation that later resolves, and PPH. Our objective was to investigate the association of resolved low placentation and other prenatal ultrasound markers, and PPH with delivery.
View Article and Find Full Text PDFTTC7A Variants Results in Gastrointestinal Defects and Immunodeficiency Syndrome: Case Series and Literature Review.
Clin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFDo routine antibiotics change the myelomeningocele infection rate? A case series.
Childs Nerv Syst
January 2025
Department of Neurological Surgery, Children's Hospital, Goiânia, Brazil.
Background: Myelomeningocele (MMC) is the most common type of congenital spinal malformation, typically requiring surgical intervention. While prenatal repair is increasingly favored, postnatal repair remains the standard in many settings. This study aims to evaluate the antibiotics prescribed to neonates with MMC and their correlation with central nervous system (CNS) infection rates following postnatal surgical repair.
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