Objective: To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings.
Design: Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings.
Results: All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001).
Conclusions: Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1515/jpm-2017-0071 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Optimal Timing of Thoracic Endovascular Aortic Repair for Late Remodeling in Acute Type B Dissection.
Ann Thorac Surg Short Rep
December 2023
Department of Cardiovascular Surgery, Akita University Graduate School of Medicine, Akita, Japan.
Background: To determine the optimal timing of thoracic endovascular aortic repair (TEVAR) for acute type B aortic dissection (TBAD), we investigated the relationship between the timing of TEVAR after onset and late aortic remodeling.
Methods: Between March 2015 and August 2020, 48 patients with TBAD (39 men [81.2%]; aged 61.
Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report.
Int Med Case Rep J
January 2025
Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
Introduction: Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs.
View Article and Find Full Text PDFLiver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.
Liver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Late-onset CSF1R-related Disorder: A Case Report.
Cogn Behav Neurol
January 2025
Department of TCM Internal Medicine, Ganzhou Nankang Hospital of Traditional Chinese Medicine, Ganzhou, China.
CSF1R-related disorder, a catastrophic neurodegenerative disease, arises from genetic mutations in the colony-stimulating CSF1R. Initial misdiagnosis is common, as demonstrated by this case involving a 52-year-old female who presented with symptoms of limb numbness and weakness. Differential diagnosis first indicated Parkinsonism, lacunar infarction, and cervical spondylosis.
View Article and Find Full Text PDFPercutaneous closure of a traumatic ventricular septal defect: a case report and literature review.
Int J Emerg Med
January 2025
Departamento de Cardiología, Fundación Valle del Lili, Carrera 98 No. 18 - 49, Cali, 760032, Colombia.
Background: Penetrating cardiac trauma is an entity with high pre and intrahospital mortality due to complications such as cardiac tamponade and massive hemothorax. A ventricular septal defect (VSD) occurs in 1-5% of cases and can present early or late. The management strategy for VSD resulting from penetrating cardiac trauma is uncertain.
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!