Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objectives: To report a family with a history of Pelizaeus-Merzbacher disease (PMD) for which prenatal diagnosis of PLP1 gene duplication status was attempted by the use of custom array comparative genomic hybridization (aCGH).
Methods: A 28-year-old woman was referred for genetic counseling for her then current pregnancy because her existing 3-year-old son was diagnosed with a classic form of PMD. At 11 and 3/7 weeks gestation, chorionic villus sampling (CVS) was performed. Custom aCGH and fluorescence in situ hybridization (FISH) analyses were also performed on the DNA from family members. Fetal karyotyping revealed 46,XY.
Results: Analysis by aCGH revealed that the male fetus was not duplicated for the PLP1 gene, but confirmed a duplicated PLP1 gene in the 3-year-old son, and that the mother was a duplication carrier. These results were independently confirmed by FISH analysis. aCGH and FISH analyses on DNA and cells derived from cord blood confirmed PLP1 nonduplication in the newborn.
Conclusion: aCGH is a reliable alternative method for detection of PLP1 copy number for prenatal diagnosis of Pelizaeus-Merzbacher disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pd.1308 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Prenatal Diagnosis of Atretic Cephalocele: Ultrasound Demonstration of Superior Sagittal Sinus Fenestration and Fibrous Stalk, and Potential Role of Brainstem-Tentorium Angle.
J Ultrasound Med
September 2025
Department of Fetal Medicine, Fortis Hospital, Ludhiana, India.
We present two cases highlighting novel prenatal ultrasound findings in atretic cephalocele (AC) using high-resolution ultrasound and microvascular flow imaging. This report includes the first prenatal ultrasound demonstration of key diagnostic AC features: superior sagittal sinus fenestration, observed in the parietal case, and a fibrous dural stalk, identified in both parietal and occipital cases. Both fetuses presented with a small midline scalp lesion, internal echoes, and an underlying bony defect without brain tissue herniation.
View Article and Find Full Text PDFFrom dual to single umbilical artery: a case of umbilical artery thrombosis with hypercoiling and literature review.
Front Med (Lausanne)
August 2025
Department of Neonatology and NICU, Wenling Maternal and Child Health Care Hospital, Wenling, Zhejiang, China.
Umbilical artery thrombosis (UAT) is an extremely rare but severe obstetric complication associated with adverse perinatal outcomes, including fetal growth restriction (FGR), fetal distress, and intrauterine fetal demise. This case report highlights the diagnostic challenges of UAT and its potential misdiagnosis as a single umbilical artery (SUA). A 32-year-old woman with a history of uncomplicated vaginal delivery was initially misdiagnosed with SUA at 29 3/7 weeks of gestation.
View Article and Find Full Text PDFDiagnosing prenatal alcohol exposure and fetal alcohol syndrome in military-connected children: Insights from US military data claims, 2016-2023.
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 PDFImpact of chorionic villus sampling volume on time to result and pregnancy management.
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.
Routine cell-free DNA prenatal screening identifies pregnancies at high risk for cystic fibrosis that may benefit from fetal therapy.
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 PDF