Background: A primary goal of amniocentesis is the detection of trisomy 21 (Down syndrome- DS) in the fetus. This procedure involves a small risk of miscarriage. As the risk of DS increases with maternal age, screening tests (maternal serum triple test and others) and age are used to generate a risk assessment, and amniocentesis is offered to women with high risk. In Israel, amniocentesis is government funded for women of advanced maternal age (AMA, i.e., ≥35 years), even if their risk assessment is low. The purpose of this study was to explore the reasons AMA women undergo amniocentesis, their knowledge about risk estimates, and to evaluate whether their decision is informed.
Methods: Shortly after undergoing amniocentesis, 42 consecutive women without a medical indication for amniocentesis other than age, completed a questionnaire that assessed their knowledge and opinions regarding screening tests, pregnancy termination, amniocentesis risks and the factors that affected their decision.
Results: Women rarely deliberated before undergoing amniocentesis. One third of those who had the screening test did not wait for the results before undergoing amniocentesis. Only one third of those who received the screening results remembered their risk estimation before going ahead with amniocentesis. Almost half (41 %) cited "age" as their main reason for undergoing amniocentesis, though only 44 % of these women could recall their age related DS risk. Sixty percent estimated their DS risk as low or very low but still had amniocentesis. Most participants (74 %) stated that they would consider termination of the pregnancy if the fetus was diagnosed with an intellectual deficit.
Conclusions: These results cast doubt on whether AMA women's decision to undergo amniocentesis is based on risk estimates, as women seem to disregard risk estimates, and sometimes not even wait for them when making the decision. The policy of funding amniocentesis solely on the basis of age may have led to the conception that being over 35 alone is sufficient reason to undergo amniocentesis. This finding should inform policy makers, as it raises questions about the link between public funding and the choices of individual women, and has implications for healthcare expenditures.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538760 | PMC |
http://dx.doi.org/10.1186/s13584-015-0019-6 | 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.
J Clin Lab Anal
January 2025
Department of Urology, Zhongshan People's Hospital, ZhongShan, China.
Objective: To explore the impact of in vitro cell subculture on prenatal diagnostic sample results and compare the efficacy of conventional karyotyping and chromosomal microarray analysis (CMA) in detecting chromosome mosaicism.
Methods: We conducted a retrospective analysis of G-banding karyotyping and CMA data from 2007 amniocentesis cases to investigate chromosome mosaicism.
Results: Chromosome mosaicism was detected in 1.
J Antimicrob Chemother
January 2025
URP 7328 Federation for Research into Innovative Explorations and Therapeutics in Utero, University of Paris-Cité, Paris, France.
Background: In cases of maternal primary infection with cytomegalovirus (CMV-MPI) maternal treatment with oral valaciclovir 8 g/day has been shown to reduce the risk of fetal infection. The pharmacological profile of this high dosage during pregnancy is not yet known.
Objectives: To quantify maternal-fetal exposure to valaciclovir 8 g/day in a population pharmacokinetic (popPK) study.
Taiwan J Obstet Gynecol
January 2025
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Post-Baccalaureate Medicine, College of Medicine, National Chung Hsing University, Taichung, Taiwan; Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan. Electronic address:
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. Here, we reported two fetuses with Harlequin ichthyosis (HI), a severe subtype of autosomal recessive congenital ichthyosis (ARCI), who were diagnosed prenatally by images and genetic investigations.
View Article and Find Full Text PDFTaiwan J Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address:
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!