Women who are the most difficult to trace after amniocentesis or chorion villus sampling are often those who have had an adverse pregnancy outcome. To calculate total fetal loss figures for use in prenatal counselling we have followed in a multicentre study 100% of women who had undergone these procedures. Early spontaneous loss (within three weeks of the procedure) and total spontaneous loss were much lower after amniocentesis (0.2% and 1.3%, respectively) than after chorion villus sampling (1.2% and 2.9%). Four spontaneous fetal losses among the 20 pregnancies that were the most difficult to follow-up increased the loss rate by 0.5% for chorion villus sampling. Risk of early fetal loss after chorion villus sampling was related to experience of the operator (relative risk [RR] 4.3, p = 0.003), and total fetal loss was lower in pregnancies tested at 10 weeks' or more gestational age compared with those tested before 10 weeks' (RR 0.4, p = 0.01). A table showing the frequency of each of the seven possible outcomes after amniocentesis and chorion villus sampling is useful in counselling those considering one or other test.
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http://dx.doi.org/10.1016/0140-6736(92)93293-v | DOI Listing |
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results.
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.
Arch 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.
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