Objective: The null hypothesis was that offspring of women undergoing first-trimester chorionic villus sampling do not experience a rate of birth defects exceeding background rates.
Study Design: Follow-up information regarding major malformations was prospectively sought on offspring of 4105 women undergoing first-trimester chorionic villus sampling from nine centers participating in a collaborative study with the Cook obstetrics and gynecology catheter. These data were compared with data from the Collaborative Perinatal Project and other registries.
Results: A total of 84 offspring with major malformations was identified (2.36%). Compared with background rates, there was no increase in the incidence of total malformations or specific malformations (including limb reduction defects) in the subjects. One institution experienced all three limb reduction defects in this series; the probability of this occurring by chance alone is < 1%.
Conclusion: Chorionic villus sampling was not found to result in an increase in major birth defects or in specific categories of birth defects in this series.
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http://dx.doi.org/10.1016/0002-9378(93)90047-m | DOI Listing |
Front Pediatr
January 2025
Henan Provincial Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Objective: Our study aimed to collect fetuses with recurrent 1q21.1 deletion or duplication syndrome for systematic clinical phenotype analysis to further delineate the intrauterine phenotype features of the two reciprocal syndromes.
Methods: Prenatal samples, including amniotic fluid and chorionic villus samples, were obtained by amniocentesis and chorionic villus sampling at our center, respectively.
Eur J Immunol
January 2025
Department of Obstetrics and Gynecology, Erasmus MC, Rotterdam, The Netherlands.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in the placenta can lead to fetal distress and demise, characterized by severe trophoblast necrosis, chronic histiocytic intervillositis (CHI), and massive perivillous fibrin deposition. We aimed to uncover spatial immune-related protein changes in SARS-CoV-2 placentitis compared with CHI placentas and uncomplicated pregnancies to gain insight into the underlying pathophysiological mechanisms. Placentas were retrospectively collected from cases with SARS-CoV-2 placentitis resulting in fetal distress/demise (n = 9), CHI (n = 9), and uncomplicated term controls (n = 9).
View Article and Find Full Text PDFArch Gynecol Obstet
January 2025
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, University of Colorado School of Medicine, 12631 East 17th Ave, Aurora, USA.
Purpose: Our primary objective was to characterize clinical and procedural factors affecting sample size in chorionic villus sampling (CVS).
Methods: This retrospective, single-site cohort study included singleton pregnancies undergoing transabdominal (TA) and transcervical (TC) CVS between 2020 and 2023. Prenatal and maternal data were obtained from the electronic medical record.
Am J Med Genet A
January 2025
Children's Hospital of Philadelphia, Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Philadelphia, Pennsylvania, USA.
We report a 28-year-old G2P0 at 24 weeks 5 days who presented for evaluation secondary to suspected skeletal dysplasia in her fetus. Fetal ultrasound imaging demonstrated foreshortened long bones by 9-10 weeks, multiple bowing deformities and fractures, 11 foreshortened paired ribs with fractures, decreased skull mineralization, frontal bossing, enlarged cavum septum pellucidi, and severe fetal growth restriction (< 2%). Findings were concerning for life limiting condition with thoracic circumference < 2.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2025
Prenatal Diagnosis Center, Xuzhou Central Hospital, Xuzhou Clinical College of Xuzhou Medical University, Xuzhou, Jiangsu 221009, China.
Objective: To explore the genotype-phenotype correlation in a Charcot-Marie-Tooth type 2A2A (CMT2A2A) pedigree and to provide genetic counseling for its subsequent pregnancies.
Methods: A Chinese pedigree presenting with "lower limb muscle atrophy and movement disorders" at the Prenatal Diagnosis Center of Xuzhou Central Hospital between January and August 2024 was selected as the study subject. Relevant clinical data were collected from the pedigree members.
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