98%
921
2 minutes
20
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976583 | PMC |
http://dx.doi.org/10.4103/0366-6999.186634 | DOI Listing |
J Matern Fetal Neonatal Med
December 2025
Section of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut, USA.
Objective: To evaluate the association between low-volume chorionic villus sampling (CVS) and delay in patient care.
Methods: This is a retrospective cohort study of patients who underwent CVS from 8/19/2019 to 12/31/2022 in a single center. The exposure was low-volume CVS, defined as less than 15 mg of sample.
J Cyst Fibros
September 2025
Department of Medicine, Division of Pulmonary, Allergy, and Critical Care Medicine, Oregon Health and Science University, Portland, OR, USA.
Recent improvements in cell-free DNA technology have enabled non-invasive prenatal testing (NIPT) to screen for fetal single-gene autosomal recessive conditions from maternal blood as early as the first trimester. This technique can determine the fetal risk for cystic fibrosis (CF) with a single blood sample from a pregnant person without the need for a partner sample, which is required for traditional carrier screening. A retrospective review of 100,106 consecutive general-risk pregnant patients who underwent CF carrier screening was completed.
View Article and Find Full Text PDFActa Trop
September 2025
Department of Public Health, Institute of Tropical Medicine, Nationalestraat 155, 2000 Antwerp, Belgium.
Congenital toxoplasmosis (CT) due to Toxoplasma gondii, an apicomplexan parasite, leads to significant sequelae in children, foetal losses and neonatal deaths worldwide. This study aimed to assess the burden of CT in Burundi for the year 2020. We used epidemiological and economic data collected in major hospitals in Burundi, the Ministry of Public Health in Burundi and international peer-reviewed literature to estimate the disability-adjusted life years (DALYs) and economic costs spent on prenatal consultations, diagnosis and treatment of toxoplasmosis for pregnant women.
View Article and Find Full Text PDFGene
September 2025
Department of Cardiac Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China; Department of Neck and Thoracic Surgery, Yingde People's Hospital, Yingde, Guangdong, China. Electronic add
Background: Recurrent 10p15.3 microdeletion syndrome is a rare multisystem disorder characterized by abnormal facial features, global developmental delay (DD)/intellectual disability (ID), short stature, hand/foot malformation, and congenital heart defects (CHDs). However, the specific genetic defects that contribute to the cardiac phenotype remain unclear.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
August 2025
Reproductive Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen 518000 Guangdong, China; Shenzhen Clinical Research Center for Obstetrics & Gynecology and Reproductive System Diseases, Shenzhen 518000 Guangdong, China. Electronic address: szfyart
Objective: This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission.
Methods: This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE.