Decision analytic models have suggested that the choice of amniocentesis or chorionic villus sampling for prenatal genetic testing is a utility-driven decision. We compared preferences for prenatal testing among 156 pregnant women who had chosen either amniocentesis (n = 82) or chorionic villus sampling (n = 74) for the indication of maternal age. We also compared their choices with those of a decision-analytic model based on their preferences, and age-specific rates of spontaneous abortion and chromosomal abnormalities. Preferences were assessed using written scenarios describing potential outcomes of prenatal testing, and were recorded on linear rating scales. The differences in preference ratings for first- vs second-trimester prenatal diagnosis of a normal child (4.2 vs -1.6, p = 0.0004), and for first- vs second-trimester abortion of an abnormal fetus (4.4 vs -1.6, p = 0.01), were significantly greater among women choosing chorionic villus sampling than among women choosing amniocentesis. There were no significant differences between chorionic villus sampling and amniocentesis patients in their preference ratings for test-related miscarriage, disconfirmed results at pregnancy termination, or maternal morbidity from therapeutic abortion. After adjusting for demographic and obstetric factors, the difference in preferences for early vs late prenatal diagnosis was an independent predictor of the choice of chorionic villus sampling in a multivariate model. Among women whose decision analyses selected amniocentesis, 56.8% had chosen amniocentesis, and among women whose analyses selected chorionic villus sampling, 63.2% had chosen chorionic villus sampling (p = 0.05). We conclude that the preferences of pregnant women for the outcomes of prenatal testing were associated with their choice of amniocentesis or chorionic villus sampling. In addition, the choice of prenatal test made by the majority of women was concordant with that of a decision-analytic model that incorporated their preferences. Nevertheless, because many women made choices that were discordant with their decision-analytic results, further research into the bases for their choices is warranted.
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http://dx.doi.org/10.1016/0895-4356(94)90126-0 | 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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