Genetic Disorders in the Fetus from Diagnosis to Treatment

Authors

1 Department of Research and Technology, Zabol University of Medical Sciences, Zabol, Iran

2 Preventative Gynecology Research Center, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Abstract

Background: Today there are many diseases that genetics contributes to these, including diabetes, hypertension, cancer, heart disease, various types of cancers and even mental illness, and by the advancement of medical knowledge The number of genetic diseases is increasing now. most people think about genetic diseases as inherited diseases, which are mostly caused by gene mutations and other genetically inherited factors. Most of the genetic disorders currently do not have 100% treatment, and the only way is to preventing the prevalence of them before marriage.
 
Methods: Eligible articles were identified by search of databases including NCBI, PubMed, ISI Web of Knowledge and Google scholar up to July 2017.
 
Results: In the field of prevention of disability and genetic disorders, many members who are at risk of genetic disease should have genetic counseling to get useful information about it. Without genetic counseling, genetic testing is meaningless, as people do not go to the laboratory without a doctor's visit; Genetic counselors won’t be able to stop people from getting married, but they provide solutions to prevent them from possible disorders.
 
Conclusions: This study provides information on genetic diseases and prevents them in newborns and suggests new solutions for the treatment of these diseases.

Keywords


1. Bennett RL. Genetic disorders and the fetus: diagnosis, prevention and treatment. Am J Hum Genet 2005; 77(5): 896-7.
2. Erbe RW. Principles of medical genetics. Am J Hum Genet 1991; 49(5): 1129-30.
3. Davies SC. European register of patients with sickle cell disease treated with hydroxyurea is being set up. BMJ 1998; 317: 541.
4. Aliyu Z, Tumblin AR, Kato GJ. Current therapy of sickle cell disease. Haematologica 2006; 91(1): 7-10.
5. Wise CA, Gao X, Shoemaker S, Gordon D, Herring JA. Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood. Curr Genomics 2008; 9(1): 51-9.
6. Conti SL, Eisenberg ML. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer. Asian J Androl 2016; 18(3): 420-4.
7. Middleton A, Hall G, Patch C. Genetic counselors and Genomic Counseling in the United Kingdom. Mol Genet Genomic Med. 2015; 3(2): 79-83.
8. Otten E, Birnie E, Ranchor AV, Langen IMV. Online genetic counseling from the providers' perspective: counselors' evaluations and a time and cost analysis. Eur J Hum Genet. 2016; 24(9): 1255-61.
9. Wieacker P, Steinhard J. The prenatal diagnosis of genetic diseases. Dtsch Arztebl Int. 2010; 107(48): 857-62.
10. Chen C. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review. TJOG 2012; 51(1): 12-7.
11. Coco R. Reprogenetics: Preimplantational genetics diagnosis. Genet Mol Biol 2014; 37(1): 271-84.
12. Bánhidy F, Lowry RB, Czeizel3 AE. Risk and benefit of drug use during pregnancy. Int J Med Sci 2005; 2(3): 100-6.
13. Ropers HH. Single gene disorders come into focus - again. Dialogues Clin Neurosci 2010; 12(1): 95-102.
14. Solomon BD, Jack B, Feero WG. The clinical content of preconception care: genetics and genomics. Am J Obstet Gynecol. 2008; 199(6): 340-4.
15. Peake R, Lillicrap DP, Boulyjenkov V, Briet E, Chan V, Ginter EK, et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull W Health Org. 1993; 71(3-4): 429-58.
16. Theisen A, Shaffer LG. Disorders caused by chromosome abnormalities. Appl Clin Genet. 2010; 3: 159-74.
17. Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. Down syndrome: an insight of the disease. J Biomed Sci. 2015; 22(1): 41.
18. Ciarleglio LJ, Bennett RL, Williamson J, Mandell JB, Marks5 JH. Genetic counseling throughout the life cycle. J Clin Invest 2003; 112(9): 1280-6.
19. Pitt JJ. Newborn screening. Clin Biochem Rev 2010; 31(2): 57-68.
20. Mei L, Song P, Xu L. Newborn screening and related policy against Phenylketonuria in China. Intractable Rare Dis Res 2013; 2(3): 72-6.
21. Green NS, Dolan SM, Murray TH. Newborn Screening: Complexities in Universal Genetic Testing. Am J Public Health. 2006; 96(11): 1955-9.
22. Shulman LP, Elias S. Amniocentesis and chorionic villus sampling. West J Med 1993; 159(3): 260-8.
23. Tait S, Tassinari R, Maranghi F, Mantovani A. Toxicogenomic analysis of placenta samples from mice exposed to different doses of BPA 2015; 4: 109-11.
24. McPherson E. Genetic Diagnosis and Testing in Clinical Practice. Clin Med Res 2006; 4(2): 123-9.
25. Gosden C, Buckton K, Fotheringham Z, Brock DJ. Prenatal fetal karyotyping and maternal serum alpha-fetoprotein screening. Br Med J (Clin Res Ed) 1981; 282(6260): 255-8.
26. Cooper AR, Jungheim ES. Preimplantation Genetic Testing: Indications and Controversies. Clin Lab Med 2010; 30(3): 519-31.
27. Menezo YJ, Frydman R, Frydman N. Preimplantation Genetic Diagnosis (PGD) in France. J Assist Reprod Genet 2004; 21(1): 7-9.
28. Akhondi MM. IVF Technology. Avicenna J Med Biotechnol 2015; 7(2): 49.
29. Moayeri M, Saeidi H, Modarresi MH, Hashemi M. The effect of preimplantation genetic screening on implantation rate in women over 35 years of age. Cell J 2016; 18(1): 13-20.
30. Coskun S, Qubbaj W. Preimplantation genetic diagnosis and selection. J Reprod Stem Cell Biotechnol 2010; 1(1): 120-40.
31. Schinzel A. Chromosome abnormalities and genetic counseling. Am J Hum Genet. 1997; 60(6): 1567-8.
32. Łaczmańska I, Stembalska A. Non-invasivefetal trisomy (NIFTY) test in prenatal diagnosis. Ginekol Pol. 2014; 85(4): 300-3.
33. Norwitz ER, Phaneuf LE, Levy C, Levy B. Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol. 2013; 6(2): 48-62.
34. Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, et al. Non-invasive prenatal testing: a review of international implementation and challenges. Int J Womens Health 2015; 7: 113-26.
35. Burke W, Tarini B, Press NA, Evans JP. Genetic screening. Epidemiol Rev 2011; 33(1): 148-64.
36. Johnston J, Farrell R, Parens E. Supporting Women’s Autonomy in Prenatal Testing. N Engl J Med 2017; 377(6): 505-7.
37. William DA. Curing Genetic Disease with Gene Therapy. Trans Am Clin Climatol Assoc 2014; 125: 122-9.
38. Keeler A, ElMallah M, Flotte T. Gene therapy 2017: progress and future directions. Clin Transl Sci 2017; 10(4): 242-8.
39. Biehl JK, Russell B. Introduction to Stem Cell Therapy. J Cardiovasc Nurs. 2009; 24(2): 98–105.
40. Thome J, Hässler F, Zachariou V. Gene therapy for psychiatric disorders. World J Biol Psychiatry 2011; 12: 16-8.
41. Paulson JD, Borremeo R, Speck G. The success of laser laparoscopy in the treatment of endometriosis: a two-step analysis. JSLS 2001; 5(1): 21-7.
Volume 1, Issue 1
July 2018
Pages 36-47
  • Receive Date: 24 December 2016
  • Revise Date: 23 May 2017
  • Accept Date: 26 July 2017
  • First Publish Date: 01 July 2018