ART Gebeliklerinde Prenatal Tanının Önemi
Özet
Referanslar
Rose NC, Kaimal AJ, Dugoff L, et al. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstetrics and Gynecology 2020;136:E48–69. https://doi.org/10.1097/AOG.0000000000004084.
Palomaki GE, Knight GJ, Haddow JE, et al. Cigarette smoking and levels of maternal serum alpha-fetoprotein, unconjugated estriol, and hCG: impact on Down syndrome screening. Obstetrics and Gynecology 1993;81:675–678.
Russo ML, Mahoney R, Driscoll DA, et al. Genetic Screening and Diagnosis . In: Landon Mark B., Galan HL, Jauniaux ERM, et al., editors. Gabbe’s Obstetrics: Normal and Problem Pregnancies. 9th ed., Philadelphia: Elsevier; 2025, p. 228–251.
Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2023;25. https://doi.org/10.1016/j.gim.2022.11.004.
Jackson LG, Zachary JM, Fowler SE, et al. A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling. New England Journal of Medicine 1992;327:594–598. https://doi.org/10.1056/NEJM199208273270903.
Rhoads GG, Jackson LG, Schlesselman SE, et al. The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities. New England Journal of Medicine 1989;320:609–617. https://doi.org/10.1056/NEJM198903093201001.
Preimplantation Genetic Testing: ACOG Committee Opinion, Number 799. Obstetrics and Gynecology 2020;135:E133–7. https://doi.org/10.1097/AOG.0000000000003714.
Oneda B, Baldinger R, Reissmann R, et al. High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenat Diagn 2014;34:525–533. https://doi.org/10.1002/PD.4342.
Wapner RJ, Martin CL, Levy B, et al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. New England Journal of Medicine 2012;367:2175–2184. https://doi.org/10.1056/NEJMOA1203382.
Shaffer LG, Dabell MP, Fisher AJ, et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012;32:976–985. https://doi.org/10.1002/PD.3945.
Hayward J, Chitty LS. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Semin Fetal Neonatal Med 2018;23:94–101. https://doi.org/10.1016/j.siny.2017.12.002.
Referanslar
Rose NC, Kaimal AJ, Dugoff L, et al. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstetrics and Gynecology 2020;136:E48–69. https://doi.org/10.1097/AOG.0000000000004084.
Palomaki GE, Knight GJ, Haddow JE, et al. Cigarette smoking and levels of maternal serum alpha-fetoprotein, unconjugated estriol, and hCG: impact on Down syndrome screening. Obstetrics and Gynecology 1993;81:675–678.
Russo ML, Mahoney R, Driscoll DA, et al. Genetic Screening and Diagnosis . In: Landon Mark B., Galan HL, Jauniaux ERM, et al., editors. Gabbe’s Obstetrics: Normal and Problem Pregnancies. 9th ed., Philadelphia: Elsevier; 2025, p. 228–251.
Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine 2023;25. https://doi.org/10.1016/j.gim.2022.11.004.
Jackson LG, Zachary JM, Fowler SE, et al. A Randomized Comparison of Transcervical and Transabdominal Chorionic-Villus Sampling. New England Journal of Medicine 1992;327:594–598. https://doi.org/10.1056/NEJM199208273270903.
Rhoads GG, Jackson LG, Schlesselman SE, et al. The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities. New England Journal of Medicine 1989;320:609–617. https://doi.org/10.1056/NEJM198903093201001.
Preimplantation Genetic Testing: ACOG Committee Opinion, Number 799. Obstetrics and Gynecology 2020;135:E133–7. https://doi.org/10.1097/AOG.0000000000003714.
Oneda B, Baldinger R, Reissmann R, et al. High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power. Prenat Diagn 2014;34:525–533. https://doi.org/10.1002/PD.4342.
Wapner RJ, Martin CL, Levy B, et al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. New England Journal of Medicine 2012;367:2175–2184. https://doi.org/10.1056/NEJMOA1203382.
Shaffer LG, Dabell MP, Fisher AJ, et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012;32:976–985. https://doi.org/10.1002/PD.3945.
Hayward J, Chitty LS. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing. Semin Fetal Neonatal Med 2018;23:94–101. https://doi.org/10.1016/j.siny.2017.12.002.
