Down syndrome screening in multiple pregnancies |
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| Authors: | Matias Alexandra Montenegro Nuno Blickstein Isaac |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Faculty of Medicine, Porto, University Hospital of S. João, Porto, Portugal;2. Kaplan Medical Center, 76100 Rehovot, Israel;1. Health Law Institute, Faculty of Law, University of Alberta, Edmonton AB;2. School of Public Health, University of Montreal, Montreal QC;3. Faculties of Law and Pharmacy & Pharmaceutical Sciences, University of Alberta, Edmonton AB;4. Centre for Intellectual Property Policy, Faculty of Law, McGill University, Montreal QC;5. Centre of Genomics and Policy, McGill University, Montreal QC;6. UMR 1027, Inserm, Université Toulouse III – Paul Sabatier, Toulouse, France;7. School of Public Health, University of Montreal, Montreal QC;8. School of Public Health, University of Alberta, Edmonton AB;9. Centre for Law, Technology and Society, University of Ottawa, Ottowa ON;10. Bachelor of Arts & Science Program, Trent University, Peterborough ON;11. Alden March Bioethics Institute, Albany Medical College, Albany, NY;12. Faculty of Medicine and Dentistry, University of Alberta, Edmonton AB;13. Department of Molecular Biology, Medical Biochemistry and Pathology, CHU de Québec, Université de Laval, Québec QC;1. Division of Pediatric Rehabilitation Medicine, Department of Pediatrics, Rady Children’s Hospital San Diego, University of California San Diego, 3020 Children’s Way, MC 5096, San Diego, CA 92123, USA;2. Pediatric and Adolescent Rehabilitation Medicine, Rehabilitation Institute of Chicago, Ann and Robert H. Lurie Children''s Hospital of Chicago Spina Bifida Clinic, Northwestern University Feinberg School of Medicine, 345 East Superior Street, Chicago, IL 60611, USA;1. Institute of Nutrition and Food Science, University of Dhaka, Dhaka 1000, Bangladesh;2. School of Medicine and Health Management, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China;3. School of International Development and Global Studies, University of Ottawa, Canada;4. Interdisciplinary School of Health Sciences, University of Ottawa, Canada;1. Genetic Counseling Graduate Program, Cincinnati Children’s Hospital Medical Center and University of Cincinnati, Cincinnati, OH;2. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;3. The Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH;4. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH;1. Medicines and Medical Devices Agency of Serbia, 11000, Belgrade, Serbia;2. Institute of Microbiology and Immunology, Faculty of Medicine, University of Belgrade, 11000, Belgrade, Serbia;3. Department of Essential Medicines and Health Products, Health Systems and Innovation, World Health Organization, 1211, Geneva, Switzerland;4. “Narodni Front” University Clinic of Gynecology and Obstetrics, Faculty of Medicine, University of Belgrade, 11000, Belgrade, Serbia;5. Department for Clinical Pathology, Clinical-Hospital Center “Zemun”, Faculty of Medicine, University of Belgrade, 11000, Belgrade, Serbia |
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| Abstract: | First or second trimester screening in twin pregnancies is feasible and still efficacious by using either a combination of ultrasound and maternal serum biochemistry in the first trimester or maternal serum biochemistry in the second trimester. Special care, however, should be emphasized in what concerns biochemical screening, since it is much less sensitive in multiples. These "pseudo-risks" have been challenged for their scientific and clinical validity, however. Until more data are available from larger studies on the distribution of markers in concordant or discordant twins, nuchal translucency estimated for each fetus should be the predominant factor by which women who present with increased risk should be counseled regarding invasive testing. In dizygotic pregnancies, pregnancy-specific risk should be calculated by summing the individual risk estimates for each fetus. In monozygotic twins, the risk should be calculated based on the geometric mean of both nuchal translucency measurements, not forgetting that the false-positive rate of nuchal translucency screening is expectantly higher than in singletons. |
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