Sci Rep
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Gulou District, No. 18 Daoshan Road, Fuzhou, 350001, Fujian, China.
Published: December 2023
Chromosomal abnormalities are the most common etiology of early spontaneous miscarriage. However, traditional karyotyping of chorionic villus samples (CVSs) is limited by cell culture and its low resolution. The objective of our study was to investigate the efficiency of molecular karyotyping technology for genetic diagnosis of early missed abortion tissues. Chromosome analysis of 1191 abortion CVSs in early pregnancy was conducted from August 2016 to June 2021; 463 cases were conducted via copy-number variations sequencing (CNV-seq)/quantitative fluorescent-polymerase chain reaction (QF-PCR) and 728 cases were conducted using SNP array. Clinically significant CNVs of CVSs were identified to clarify the cause of miscarriage and to guide the couples' subsequent pregnancies. Among these, 31 cases with significant maternal cell contamination were removed from the study. Among the remaining 1160 samples, 751 cases (64.7%) with genetic abnormalities were identified, of which, 531 (45.8%) were single aneuploidies, 31 (2.7%) were multiple aneuploidies, 50 (4.3%) were polyploidies, 54 (4.7%) were partial aneuploidies, 77 (6.6%) had submicroscopic CNVs (including 25 with clinically significant CNVs and 52 had variants of uncertain significance), and 8 cases (0.7%) were uniparental disomies. Our study suggests that both SNP array and CNV-seq/QF-PCR are reliable, robust, and high-resolution technologies for genetic diagnosis of miscarriage.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10713591 | PMC |
http://dx.doi.org/10.1038/s41598-023-48358-0 | DOI Listing |
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.
J Assist Reprod Genet
January 2025
Centro de Asistencia a La Reproducción Humana de Canarias, La Laguna, Santa Cruz de Tenerife, Spain.
Purpose: To evaluate the safety, accuracy, and effectiveness of embryoscopy for the management of early abortion and to test the hypothesis that targeted embryo and chorionic villi sampling avoids maternal cell contamination (MCC) for genetic testing of products of conception (POC).
Methods: This ambispective study included 74 consecutive patients presenting with early abortion. Gestations between 5 and 9 weeks, obtained either spontaneously or through assisted reproductive technologies were included.
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