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Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.
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http://dx.doi.org/10.1111/j.1741-4520.2011.00325.x | DOI Listing |
Alcohol Clin Exp Res (Hoboken)
September 2025
Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Background: Fetal alcohol spectrum disorder (FASD) is a lifelong neurodevelopmental condition resulting from prenatal alcohol exposure (PAE) during gestation. Conservative estimates of FASD prevalence in United States children are 1%-5%. Early identification could facilitate early intervention, yet fewer than 1% of children with FASD receive a diagnosis.
View Article and Find Full Text PDFJ 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.
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