Prednosti i ograničenja trenutno dostupnih metoda prenatalne dijagnostike
Trenutno dostupne metode prenatalne dijagnostike
Ključne reči:
zdravstveni radnici, medicinska praksa, prenatalna dijagnostika, prenatalno testiranje
Sažetak
Trudnoća je jedan od najvažnijih i najprijatnijih, ali veoma često i najstresnijih perioda u životu žene. Najčešći strahovi koji se javljaju vezani su za zdravlje bebe, tok trudnoće i porođaj. Kako bi se stekao uvid u zdravstveno stanje bebe, danas postoji mnogo procedura prenatalne dijagnostike koje se mogu preporučiti trudnicama.
Različite studije su pokazale da u pojedinim zdravstvenim sistemima zdravstveni radnici poseduju praznine u znanju u pojedinim oblastima prenatalne dijagnostike i testiranja prvenstveno zbog stalnog unapređenja tehnologije prenatalne dijagnostike, uvođenja novih testova kao i povećanja dostupnosti, specifičnosti i osetljivosti već postojeći prenatalnih testova. Iz tog razloga neophodno je uvođenje kontinuirane medicinske edukacije kao i kontinuirano objavljivanje novih nalaza iz oblasti prenatalne dijagnostike za zdravstvene radnike koji se bave prenatalnim savetovanjem.
Cilj ovog rada bio je da sistemizuje dosadašnja znanja i pruži medicinskim radnicima nov i detaljan uvid u trenutno dostupne metode prenatalne dijagnostike, njihovu informativnost, primenu, indikacije, kontraindikacije i moguće komplikacije sve u cilju unapređenja dosadašnje medicinske prakse.
Reference
. George A, Luz RF, De Tychey C, Thilly N, Spitz E. Anxiety symptoms and coping strategies in the perinatal period. BMC Pregnancy Childbirth 2013;13(233):14710. https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/1471-2393-13-233
. Melender HL, Lauri S. Fears associated with pregnancy and childbirth-experiences of women who have recently given birth. Midwifery. 1999;15(3):177-182. https://pubmed.ncbi.nlm.nih.gov/10776242/
. Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008;57(1):1-5.
https://pubmed.ncbi.nlm.nih.gov/18185492/
4. Kochanek KD, Kirmeyer SE, Martin JA, Strobino DM, Guyer B. Annual summary of vital statistics: 2009. Pediatrics. 2012;129(2):338-348.
https://pubmed.ncbi.nlm.nih.gov/22291121/
5. Levy B, Stosic M. Traditional Prenatal Diagnosis: Past to Present. Methods Mol Biol. 2019;1885:3-22.
https://pubmed.ncbi.nlm.nih.gov/30506187/
. Salehi A, Ahmad-Shirvani M, Mousavinasab N, Aarabi M, Shahhosseini Z. Health‑care providers’ knowledge about prenatal screening: A study in the north of Iran. Nurs Midwifery Stud. 2019;8:112-7.
https://journals.lww.com/nams/fulltext/2019/08020/health_care_providers__knowledge_about_prenatal.9.aspx
. Bello O, Halifa I, Obajim G. Knowledge and attitude of healthcare providers towards prenatal screening and diagnosis in a lower-middle income country. TNHJ. 2022; 22(3):244-249.
https://www.tnhjph.com/index.php/tnhj/article/view/582
8. Blakeley C, Smith DM, Johnstone ED, Wittkowski A. Parental decision-making following a prenatal diagnosis that is lethal, life-limiting, or has long term implications for the future child and family: a meta-synthesis of qualitative literature. BMC Med Ethics. 2019;20(1):56.
https://bmcmedethics.biomedcentral.com/articles/10.1186/s12910-019-0393-7
. Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. APPENDIX H, PRENATAL SCREENING AND TESTING. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK115544/
. Dukhovny S, Norton ME. What are the goals of prenatal genetic testing? Semin Perinatol. 2018;42(5):270-274.
https://pubmed.ncbi.nlm.nih.gov/30195989/
. Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. CHAPTER 5, GENETIC COUNSELING. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK115552/
. Lemacks J, Fowles K, Mateus A, Thomas K. Insights from parents about caring for a child with birth defects. Int J Environ Res Public Health. 2013;10(8):3465-3482.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774449/
. Liehr T, Lauten A, Schneider U, Schleussner E, Weise A. Noninvasive Prenatal Testing - When Is It Advantageous to Apply. Biomed Hub. 2017;2(1):1-11.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945944/
. Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L. Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected]. Eur J Hum Genet. 2014;22(5):580-586. Erratum in: Eur J Hum Genet. 2014;22(5):714.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992567/
. Collins SL, Impey L. Prenatal diagnosis: types and techniques. Early Hum Dev. 2012; 88(1):3–8.
https://www.sciencedirect.com/science/article/abs/pii/S0378378211003495?via%3Dihub
. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-122.
https://journals.lww.com/greenjournal/abstract/2016/05000/practice_bulletin_no__162__prenatal_diagnostic.40.aspx
. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):e123-137.
https://journals.lww.com/greenjournal/Citation/2016/05000/Practice_Bulletin_No__163___Screening_for_Fetal.41.aspx
. Wapner RJ, Jenkins TM, Khalek N. Prenatal diagnosis of congenital disorders. In: Creasy KR., Resnik R. Maternal-Fetal Medicine -Saunders, Philadelphia, Pennsylvania 235-281, 2004.
https://blog.utp.edu.co/doctorgaviria/files/2015/11/Creasy-and-Resnik-Book.pdf
. Murugan VA, Murphy BO, Dupuis C, Goldstein A, Kim YH. Role of ultrasound in the evaluation of first-trimester pregnancies in the acute setting. Ultrasonography 2020;39(2):178-189.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065984/
. Whitworth M, Bricker L, Neilson JP, Dowswell T. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst Rev. 2010;(4):CD007058.
https://pubmed.ncbi.nlm.nih.gov/20393955/
. Leung KY, Poon CF, Teotico AR, Hata T, Won HS, Chen M, et al. Ultrasound Committee, Asia and Oceania Federation of Obstetrics & Gynaecology. Recommendations on routine mid-trimester anomaly scan. J Obstet Gynaecol Res. 2015;41(5):653-661.
https://pubmed.ncbi.nlm.nih.gov/25891534/
. Getz L, Kirkengen AL. Ultrasound screening in pregnancy: advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas. Soc Sci Med. 2003;56(10):2045-2057.
https://www.sciencedirect.com/science/article/abs/pii/S0277953602002009
. Lee WA, Nelson G, Grogan SP. Sonography 1st trimester assessment, protocols, and interpretation. [Updated 2022 Aug 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK573070
. Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2013;41(1):102-113.
https://pubmed.ncbi.nlm.nih.gov/23280739/
. Driscoll DA, Gross SJ; Professional Practice and Guidelines Committee. First trimester diagnosis and screening for fetal aneuploidy. Genet Med. 2008;10(1):73-75.
https://pubmed.ncbi.nlm.nih.gov/18197059/
. Schiøtt KM, Christiansen M, Petersen OB, Sørensen TL, Uldbjerg N. The "Consecutive Combined Test"--using double test from week 8 + 0 and nuchal translucency scan, for first trimester screening for Down syndrome. Prenat Diagn. 2006;26(12):1105-1109.
https://pubmed.ncbi.nlm.nih.gov/17042034/
. Driscoll DA; Professional Practice and Guidelines Committee. Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy. Genet Med. 2004;6(6):540-541.
https://www.nature.com/articles/gim200477
. Graves JC, Miller KE, Sellers AD. Maternal serum triple analyte screening in pregnancy. Am Fam Physician. 2002;65(5):915-920.
https://pubmed.ncbi.nlm.nih.gov/11898965/
. Boonpiam R, Wanapirak C, Sirichotiyakul S, Sekararithi R, Traisrisilp K, Tongsong T. Quad test for fetal aneuploidy screening as a predictor of small-for-gestational age fetuses: a population-based study. BMC Pregnancy Childbirth. 2020;20(1):621.
https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03298-9
. Álvarez-Nava F, Soto M, Padrón T, Morales A, Villalobos D, Rojas de Atencio A, et al. Maternal serum screening: clinical importance of false-positive rate. Invest Clín [online]. 2003;44(3):195-207.
https://pubmed.ncbi.nlm.nih.gov/14552058/
. Rafi I, Chitty L. Cell-free fetal DNA and non-invasive prenatal diagnosis. Br J Gen Pract. 2009;59(562):e146-148.
https://pubmed.ncbi.nlm.nih.gov/19401007/
. Lo YMD. Discovery of cell-free fetal DNA in maternal blood and development of noninvasive prenatal testing: 2022 Lasker-DeBakey Clinical Medical Research Award. JAMA. 2022;328(13):1293-1294.
https://pubmed.ncbi.nlm.nih.gov/36170057/
. Swanson A, Sehnert AJ, Bhatt S. Non-invasive prenatal testing: technologies, clinical assays and implementation strategies for women's healthcare practitioners. Curr Genet Med Rep. 2013;1(2):113-121.
https://pubmed.ncbi.nlm.nih.gov/23687624/
. Shaw, J, Scotchman E, Chandler N, Chitty LS. PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. Reproduction 2020;160(5):A1-A11.
https://pubmed.ncbi.nlm.nih.gov/32130205/
. Okmen F, Ekici H, Hortu I, Imamoglu M, Arican D, Akın H, et al. Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience. J Assist Reprod Genet. 2020;37(8):2019-2024.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7467995/
. Simpson JL, Lewis DE, Bischoff F, Elias S. La détection des cellules foetales dans le sang maternal: vers un diagnostic prénatal non invasif [Detection of fetal cells in maternal blood: towards a noninvasive prenatal diagnosis]. Contracept Fertil Sex. 1995;23(7-8):445-450.
https://pubmed.ncbi.nlm.nih.gov/7550558/
. Tang Y, Tang Q, Luo H, Zhang X, Chen Q, Tang W, et al. Research progress in isolation and enrichment of fetal cells from maternal blood. J Chem. 2022;2022:1–8. Article ID 7131241.
https://www.hindawi.com/journals/jchem/2022/7131241/
. Sabbatinelli G, Fantasia D, Palka C, Morizio E, Alfonsi M, Calabrese G. Isolation and enrichment of circulating fetal cells for NIPD: an overview. Diagnostics (Basel). 2021;11(12):2239.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700692/
. Chen Y, Wu Z, Sutlive J, Wu K, Mao L, Nie J, et al. Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells. J Nanobiotechnol. 2022;20;546.
https://pubmed.ncbi.nlm.nih.gov/36585678/
. Singh R, Hatt L, Ravn K, Vogel I, Petersen OB, Uldbjerg N, et al. Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled. Biomark Med. 2017;11(9):705–710.
https://pubmed.ncbi.nlm.nih.gov/28617034/
. Ota M, Fukushima H, Kulski JK, Inoko H. Single nucleotide polymorphism detection by polymerase chain reaction-restriction fragment length polymorphism. Nat Protoc. 2007;2:2857-2864.
https://pubmed.ncbi.nlm.nih.gov/18007620/
. Wapner RJ. Invasive prenatal diagnostic techniques. Semin Perinatol. 2005;29(6):401-404.
https://pubmed.ncbi.nlm.nih.gov/16533654/
. Giovannopoulou E, Tsakiridis I, Mamopoulos A, Kalogiannidis I, Papoulidis I, Athanasiadis A, et al. Invasive prenatal diagnostic testing for aneuploidies in singleton pregnancies: a comparative review of major guidelines. Medicina (Kaunas). 2022;58(10):1472.
https://pubmed.ncbi.nlm.nih.gov/36295632/
. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459-1467.
https://pubmed.ncbi.nlm.nih.gov/18055749/
. Quinlan MP. Amniocentesis: indications and risks. Virtual Mentor. 2008;10(5):304-306.
https://journalofethics.ama-assn.org/article/amniocentesis-indications-and-risks/2008-05
. Jindal A, Sharma M, Karena ZV, Chaudhary C. Amniocentesis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; September 9, 2022.
https://www.ncbi.nlm.nih.gov/books/NBK559247/
. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27(1):1-7.
https://karger.com/fdt/article-pdf/27/1/1/2777519/000271995.pdf
. Younesi S, Taheri Amin MM, Hantoushzadeh S, Saadati P, Jamali S, Modarressi MH, et al. Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women. Sci Rep. 2021;11(1):19402.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484541/
. Stomornjak-Vukadin M, Kurtovic-Basic I, Mehinovic L, Konjhodzic R. Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities. Acta Inform Med. 2015;23(2):68-72.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429985/
. Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201-212.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856154/
. Cariati F, D’Argenio V, Tomaiuolo R. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age. J Lab Precis Med 2020;5:6.
https://jlpm.amegroups.org/article/view/5225/html
. Oliveira FR, Barros EG, Magalhães JA. Biochemical profile of amniotic fluid for the assessment of fetal and renal development. Braz J Med Biol Res. 2002;35(2):215-222.
https://pubmed.ncbi.nlm.nih.gov/11847525/
. Valente P, Sever JL. In utero diagnosis of congenital infections by direct fetal sampling. Isr J Med Sci. 1994;30(5-6):414-420.
https://pubmed.ncbi.nlm.nih.gov/8034496/
. Jones TM, Montero FJ. Chorionic Villus Sampling. In: StatPearls. Treasure Island (FL): StatPearls Publishing; December 11, 2022.
https://www.ncbi.nlm.nih.gov/books/NBK563301/
. Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N, Alfirevic Z,.et al. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48(2):256-268.
https://www.isuog.org/static/43a747a0-7550-4cbb-9209cfbf78480269/ISUOG-Practice-Guidelines-invasive-procedures-prenatal-diagnosis.pdf
. Wapner RJ. Chorionic villus sampling. Obstet Gynecol Clin North Am. 1997;24(1):83-110.
https://www.sciencedirect.com/science/article/abs/pii/S0889854505702916?via%3Dihub
. Bhatt RK. Chorionic Villus Sampling. J Fetal Med. 2017;4:79-84.
https://www.thieme-connect.com/products/ejournals/pdf/10.1007/s40556-017-0115-5.pdf
. Shahbazian N, Barati M, Arian P, Saadati N. Comparison of complications of chorionic villus sampling and amniocentesis. Int J Fertil Steril. 2012;5(4):241-244.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152188/
. Malvestiti F, Agrati C, Grimi B, Pompilii E, Izzi C, Martinoni L, et al. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenat Diagn. 2015;35(11):1117-1127.
https://pubmed.ncbi.nlm.nih.gov/26213308/
. Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20(4):571-581.
https://pubmed.ncbi.nlm.nih.gov/24667481/
. Hsu WW, Hsieh CJ, Lee CN, Chen CL, Lin MW, Kang J, et al. Complication rates after chorionic villus sampling and midtrimester amniocentesis: A 7-year national registry study. J Formos Med Assoc. 2019;118(7):1107-1113.
https://pubmed.ncbi.nlm.nih.gov/30928186/
. Peddi NC, Avanthika C, Vuppalapati S, Balasubramanian R, Kaur J, Datta NC. A review of cordocentesis: percutaneous umbilical cord blood sampling. Cureus. 2021;13(7):e16423.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369974/
. Boulot P, Lefort G, Bachelard B, Humeau C, Hedon B, Laffargue F, et al. Cordocentesis versus amniocentesis for rapid fetal karyotyping in cases of late referral of women. J Perinat Med. 1992;20(2):159-61.
https://pubmed.ncbi.nlm.nih.gov/1501060/
. Lu L, Lv B, Huang K, Xue Z, Zhu X, Fan G. Recent advances in preimplantation genetic diagnosis and screening. J Assist Reprod Genet. 2016;33(9):1129-34.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010808/
. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768-770.
https://pubmed.ncbi.nlm.nih.gov/2330030/
. Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn. 1998;18(13):1389-1401.
https://pubmed.ncbi.nlm.nih.gov/9949439/
. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn. 1998;18(13):1437-1449.
https://pubmed.ncbi.nlm.nih.gov/9949444/
. Leaver M, Wells D. Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics? Hum Reprod Update. 2020;26(1):16-42.
https://pubmed.ncbi.nlm.nih.gov/31774124/
. Coonen E, van Montfoort A, Carvalho F, Kokkali G, Moutou C, Rubio C, De Rycke M, Goossens V. ESHRE PGT Consortium data collection XVI-XVIII: cycles from 2013 to 2015. Hum Reprod Open. 2020 Oct 3;2020(4):hoaa043.
https://pubmed.ncbi.nlm.nih.gov/33033756/
. Melender HL, Lauri S. Fears associated with pregnancy and childbirth-experiences of women who have recently given birth. Midwifery. 1999;15(3):177-182. https://pubmed.ncbi.nlm.nih.gov/10776242/
. Centers for Disease Control and Prevention (CDC). Update on overall prevalence of major birth defects--Atlanta, Georgia, 1978-2005. MMWR Morb Mortal Wkly Rep. 2008;57(1):1-5.
https://pubmed.ncbi.nlm.nih.gov/18185492/
4. Kochanek KD, Kirmeyer SE, Martin JA, Strobino DM, Guyer B. Annual summary of vital statistics: 2009. Pediatrics. 2012;129(2):338-348.
https://pubmed.ncbi.nlm.nih.gov/22291121/
5. Levy B, Stosic M. Traditional Prenatal Diagnosis: Past to Present. Methods Mol Biol. 2019;1885:3-22.
https://pubmed.ncbi.nlm.nih.gov/30506187/
. Salehi A, Ahmad-Shirvani M, Mousavinasab N, Aarabi M, Shahhosseini Z. Health‑care providers’ knowledge about prenatal screening: A study in the north of Iran. Nurs Midwifery Stud. 2019;8:112-7.
https://journals.lww.com/nams/fulltext/2019/08020/health_care_providers__knowledge_about_prenatal.9.aspx
. Bello O, Halifa I, Obajim G. Knowledge and attitude of healthcare providers towards prenatal screening and diagnosis in a lower-middle income country. TNHJ. 2022; 22(3):244-249.
https://www.tnhjph.com/index.php/tnhj/article/view/582
8. Blakeley C, Smith DM, Johnstone ED, Wittkowski A. Parental decision-making following a prenatal diagnosis that is lethal, life-limiting, or has long term implications for the future child and family: a meta-synthesis of qualitative literature. BMC Med Ethics. 2019;20(1):56.
https://bmcmedethics.biomedcentral.com/articles/10.1186/s12910-019-0393-7
. Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. APPENDIX H, PRENATAL SCREENING AND TESTING. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK115544/
. Dukhovny S, Norton ME. What are the goals of prenatal genetic testing? Semin Perinatol. 2018;42(5):270-274.
https://pubmed.ncbi.nlm.nih.gov/30195989/
. Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. CHAPTER 5, GENETIC COUNSELING. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK115552/
. Lemacks J, Fowles K, Mateus A, Thomas K. Insights from parents about caring for a child with birth defects. Int J Environ Res Public Health. 2013;10(8):3465-3482.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774449/
. Liehr T, Lauten A, Schneider U, Schleussner E, Weise A. Noninvasive Prenatal Testing - When Is It Advantageous to Apply. Biomed Hub. 2017;2(1):1-11.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6945944/
. Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L. Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected]. Eur J Hum Genet. 2014;22(5):580-586. Erratum in: Eur J Hum Genet. 2014;22(5):714.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992567/
. Collins SL, Impey L. Prenatal diagnosis: types and techniques. Early Hum Dev. 2012; 88(1):3–8.
https://www.sciencedirect.com/science/article/abs/pii/S0378378211003495?via%3Dihub
. Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-122.
https://journals.lww.com/greenjournal/abstract/2016/05000/practice_bulletin_no__162__prenatal_diagnostic.40.aspx
. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):e123-137.
https://journals.lww.com/greenjournal/Citation/2016/05000/Practice_Bulletin_No__163___Screening_for_Fetal.41.aspx
. Wapner RJ, Jenkins TM, Khalek N. Prenatal diagnosis of congenital disorders. In: Creasy KR., Resnik R. Maternal-Fetal Medicine -Saunders, Philadelphia, Pennsylvania 235-281, 2004.
https://blog.utp.edu.co/doctorgaviria/files/2015/11/Creasy-and-Resnik-Book.pdf
. Murugan VA, Murphy BO, Dupuis C, Goldstein A, Kim YH. Role of ultrasound in the evaluation of first-trimester pregnancies in the acute setting. Ultrasonography 2020;39(2):178-189.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065984/
. Whitworth M, Bricker L, Neilson JP, Dowswell T. Ultrasound for fetal assessment in early pregnancy. Cochrane Database Syst Rev. 2010;(4):CD007058.
https://pubmed.ncbi.nlm.nih.gov/20393955/
. Leung KY, Poon CF, Teotico AR, Hata T, Won HS, Chen M, et al. Ultrasound Committee, Asia and Oceania Federation of Obstetrics & Gynaecology. Recommendations on routine mid-trimester anomaly scan. J Obstet Gynaecol Res. 2015;41(5):653-661.
https://pubmed.ncbi.nlm.nih.gov/25891534/
. Getz L, Kirkengen AL. Ultrasound screening in pregnancy: advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas. Soc Sci Med. 2003;56(10):2045-2057.
https://www.sciencedirect.com/science/article/abs/pii/S0277953602002009
. Lee WA, Nelson G, Grogan SP. Sonography 1st trimester assessment, protocols, and interpretation. [Updated 2022 Aug 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK573070
. Salomon LJ, Alfirevic Z, Bilardo CM, Chalouhi GE, Ghi T, Kagan KO, et al. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol. 2013;41(1):102-113.
https://pubmed.ncbi.nlm.nih.gov/23280739/
. Driscoll DA, Gross SJ; Professional Practice and Guidelines Committee. First trimester diagnosis and screening for fetal aneuploidy. Genet Med. 2008;10(1):73-75.
https://pubmed.ncbi.nlm.nih.gov/18197059/
. Schiøtt KM, Christiansen M, Petersen OB, Sørensen TL, Uldbjerg N. The "Consecutive Combined Test"--using double test from week 8 + 0 and nuchal translucency scan, for first trimester screening for Down syndrome. Prenat Diagn. 2006;26(12):1105-1109.
https://pubmed.ncbi.nlm.nih.gov/17042034/
. Driscoll DA; Professional Practice and Guidelines Committee. Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy. Genet Med. 2004;6(6):540-541.
https://www.nature.com/articles/gim200477
. Graves JC, Miller KE, Sellers AD. Maternal serum triple analyte screening in pregnancy. Am Fam Physician. 2002;65(5):915-920.
https://pubmed.ncbi.nlm.nih.gov/11898965/
. Boonpiam R, Wanapirak C, Sirichotiyakul S, Sekararithi R, Traisrisilp K, Tongsong T. Quad test for fetal aneuploidy screening as a predictor of small-for-gestational age fetuses: a population-based study. BMC Pregnancy Childbirth. 2020;20(1):621.
https://bmcpregnancychildbirth.biomedcentral.com/articles/10.1186/s12884-020-03298-9
. Álvarez-Nava F, Soto M, Padrón T, Morales A, Villalobos D, Rojas de Atencio A, et al. Maternal serum screening: clinical importance of false-positive rate. Invest Clín [online]. 2003;44(3):195-207.
https://pubmed.ncbi.nlm.nih.gov/14552058/
. Rafi I, Chitty L. Cell-free fetal DNA and non-invasive prenatal diagnosis. Br J Gen Pract. 2009;59(562):e146-148.
https://pubmed.ncbi.nlm.nih.gov/19401007/
. Lo YMD. Discovery of cell-free fetal DNA in maternal blood and development of noninvasive prenatal testing: 2022 Lasker-DeBakey Clinical Medical Research Award. JAMA. 2022;328(13):1293-1294.
https://pubmed.ncbi.nlm.nih.gov/36170057/
. Swanson A, Sehnert AJ, Bhatt S. Non-invasive prenatal testing: technologies, clinical assays and implementation strategies for women's healthcare practitioners. Curr Genet Med Rep. 2013;1(2):113-121.
https://pubmed.ncbi.nlm.nih.gov/23687624/
. Shaw, J, Scotchman E, Chandler N, Chitty LS. PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. Reproduction 2020;160(5):A1-A11.
https://pubmed.ncbi.nlm.nih.gov/32130205/
. Okmen F, Ekici H, Hortu I, Imamoglu M, Arican D, Akın H, et al. Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience. J Assist Reprod Genet. 2020;37(8):2019-2024.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7467995/
. Simpson JL, Lewis DE, Bischoff F, Elias S. La détection des cellules foetales dans le sang maternal: vers un diagnostic prénatal non invasif [Detection of fetal cells in maternal blood: towards a noninvasive prenatal diagnosis]. Contracept Fertil Sex. 1995;23(7-8):445-450.
https://pubmed.ncbi.nlm.nih.gov/7550558/
. Tang Y, Tang Q, Luo H, Zhang X, Chen Q, Tang W, et al. Research progress in isolation and enrichment of fetal cells from maternal blood. J Chem. 2022;2022:1–8. Article ID 7131241.
https://www.hindawi.com/journals/jchem/2022/7131241/
. Sabbatinelli G, Fantasia D, Palka C, Morizio E, Alfonsi M, Calabrese G. Isolation and enrichment of circulating fetal cells for NIPD: an overview. Diagnostics (Basel). 2021;11(12):2239.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8700692/
. Chen Y, Wu Z, Sutlive J, Wu K, Mao L, Nie J, et al. Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells. J Nanobiotechnol. 2022;20;546.
https://pubmed.ncbi.nlm.nih.gov/36585678/
. Singh R, Hatt L, Ravn K, Vogel I, Petersen OB, Uldbjerg N, et al. Fetal cells in maternal blood for prenatal diagnosis: a love story rekindled. Biomark Med. 2017;11(9):705–710.
https://pubmed.ncbi.nlm.nih.gov/28617034/
. Ota M, Fukushima H, Kulski JK, Inoko H. Single nucleotide polymorphism detection by polymerase chain reaction-restriction fragment length polymorphism. Nat Protoc. 2007;2:2857-2864.
https://pubmed.ncbi.nlm.nih.gov/18007620/
. Wapner RJ. Invasive prenatal diagnostic techniques. Semin Perinatol. 2005;29(6):401-404.
https://pubmed.ncbi.nlm.nih.gov/16533654/
. Giovannopoulou E, Tsakiridis I, Mamopoulos A, Kalogiannidis I, Papoulidis I, Athanasiadis A, et al. Invasive prenatal diagnostic testing for aneuploidies in singleton pregnancies: a comparative review of major guidelines. Medicina (Kaunas). 2022;58(10):1472.
https://pubmed.ncbi.nlm.nih.gov/36295632/
. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110(6):1459-1467.
https://pubmed.ncbi.nlm.nih.gov/18055749/
. Quinlan MP. Amniocentesis: indications and risks. Virtual Mentor. 2008;10(5):304-306.
https://journalofethics.ama-assn.org/article/amniocentesis-indications-and-risks/2008-05
. Jindal A, Sharma M, Karena ZV, Chaudhary C. Amniocentesis. In: StatPearls. Treasure Island (FL): StatPearls Publishing; September 9, 2022.
https://www.ncbi.nlm.nih.gov/books/NBK559247/
. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther. 2010;27(1):1-7.
https://karger.com/fdt/article-pdf/27/1/1/2777519/000271995.pdf
. Younesi S, Taheri Amin MM, Hantoushzadeh S, Saadati P, Jamali S, Modarressi MH, et al. Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women. Sci Rep. 2021;11(1):19402.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8484541/
. Stomornjak-Vukadin M, Kurtovic-Basic I, Mehinovic L, Konjhodzic R. Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities. Acta Inform Med. 2015;23(2):68-72.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429985/
. Levy B, Wapner R. Prenatal diagnosis by chromosomal microarray analysis. Fertil Steril. 2018;109(2):201-212.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856154/
. Cariati F, D’Argenio V, Tomaiuolo R. Innovative technologies for diagnosis and screening of genetic diseases in antenatal age. J Lab Precis Med 2020;5:6.
https://jlpm.amegroups.org/article/view/5225/html
. Oliveira FR, Barros EG, Magalhães JA. Biochemical profile of amniotic fluid for the assessment of fetal and renal development. Braz J Med Biol Res. 2002;35(2):215-222.
https://pubmed.ncbi.nlm.nih.gov/11847525/
. Valente P, Sever JL. In utero diagnosis of congenital infections by direct fetal sampling. Isr J Med Sci. 1994;30(5-6):414-420.
https://pubmed.ncbi.nlm.nih.gov/8034496/
. Jones TM, Montero FJ. Chorionic Villus Sampling. In: StatPearls. Treasure Island (FL): StatPearls Publishing; December 11, 2022.
https://www.ncbi.nlm.nih.gov/books/NBK563301/
. Ghi T, Sotiriadis A, Calda P, Da Silva Costa F, Raine-Fenning N, Alfirevic Z,.et al. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology. ISUOG Practice Guidelines: invasive procedures for prenatal diagnosis. Ultrasound Obstet Gynecol. 2016;48(2):256-268.
https://www.isuog.org/static/43a747a0-7550-4cbb-9209cfbf78480269/ISUOG-Practice-Guidelines-invasive-procedures-prenatal-diagnosis.pdf
. Wapner RJ. Chorionic villus sampling. Obstet Gynecol Clin North Am. 1997;24(1):83-110.
https://www.sciencedirect.com/science/article/abs/pii/S0889854505702916?via%3Dihub
. Bhatt RK. Chorionic Villus Sampling. J Fetal Med. 2017;4:79-84.
https://www.thieme-connect.com/products/ejournals/pdf/10.1007/s40556-017-0115-5.pdf
. Shahbazian N, Barati M, Arian P, Saadati N. Comparison of complications of chorionic villus sampling and amniocentesis. Int J Fertil Steril. 2012;5(4):241-244.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152188/
. Malvestiti F, Agrati C, Grimi B, Pompilii E, Izzi C, Martinoni L, et al. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenat Diagn. 2015;35(11):1117-1127.
https://pubmed.ncbi.nlm.nih.gov/26213308/
. Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20(4):571-581.
https://pubmed.ncbi.nlm.nih.gov/24667481/
. Hsu WW, Hsieh CJ, Lee CN, Chen CL, Lin MW, Kang J, et al. Complication rates after chorionic villus sampling and midtrimester amniocentesis: A 7-year national registry study. J Formos Med Assoc. 2019;118(7):1107-1113.
https://pubmed.ncbi.nlm.nih.gov/30928186/
. Peddi NC, Avanthika C, Vuppalapati S, Balasubramanian R, Kaur J, Datta NC. A review of cordocentesis: percutaneous umbilical cord blood sampling. Cureus. 2021;13(7):e16423.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369974/
. Boulot P, Lefort G, Bachelard B, Humeau C, Hedon B, Laffargue F, et al. Cordocentesis versus amniocentesis for rapid fetal karyotyping in cases of late referral of women. J Perinat Med. 1992;20(2):159-61.
https://pubmed.ncbi.nlm.nih.gov/1501060/
. Lu L, Lv B, Huang K, Xue Z, Zhu X, Fan G. Recent advances in preimplantation genetic diagnosis and screening. J Assist Reprod Genet. 2016;33(9):1129-34.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010808/
. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768-770.
https://pubmed.ncbi.nlm.nih.gov/2330030/
. Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn. 1998;18(13):1389-1401.
https://pubmed.ncbi.nlm.nih.gov/9949439/
. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn. 1998;18(13):1437-1449.
https://pubmed.ncbi.nlm.nih.gov/9949444/
. Leaver M, Wells D. Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics? Hum Reprod Update. 2020;26(1):16-42.
https://pubmed.ncbi.nlm.nih.gov/31774124/
. Coonen E, van Montfoort A, Carvalho F, Kokkali G, Moutou C, Rubio C, De Rycke M, Goossens V. ESHRE PGT Consortium data collection XVI-XVIII: cycles from 2013 to 2015. Hum Reprod Open. 2020 Oct 3;2020(4):hoaa043.
https://pubmed.ncbi.nlm.nih.gov/33033756/
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2025/11/20
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Pregledni rad / Review article