Twin Pregnancy discordordant for Downs syndrome: Case Report
Keywords:
Twin Pregnancy, Nuchal Translucency, Robertsonian Translocation, Down Syndrome, Fetal Reduction
Abstract
The work presented is a clinical and genetical trial of a couple with a reproductive failure and a family history of chro-mosomal abnormalities. The most reliable and accurate methods used for antenatal diagnosis of Down syndrome fetuses are highlighted.
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References
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6. Cicero S, Bindra R, Rembouskos G, Spencer K and Nicolaides KH. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn. 2003 Apr;23(4):306-10.
7. Nicolaides KH. Nuchal translucency and other first-trimester sono- graphic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004 Jul;191(1):45-67. [PubMed]
8. Nicolaides KH, Azar G, Byrne D, Mansur C and Marks K. Fetal nuchal translucency: ultrasound screening for chro-mosomal defects in first tri- mester of pregnancy. BMJ. 1992 Apr 4;304(6831):867-9. [PubMed]
9. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O.. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005 Mar;25(3):221-6.
10. Malone FD, Ball RH, Nyberg DA, Comstock CH, Saade G, Berkowitz RL, Dugoff L, Craigo SD, Carr SR, Wolfe HM et al. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol. 2004 Dec;104(6):1222-8. [PubMed]
11. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005 Nov 10;353(19):2001-11. [PubMed]
12. Palomaki GE, Kloza EM, Haddow JE, Williams J and Knight GJ. Patient and health professional acceptance of inte-grated serum screening for Down syndrome. Semin Perinatol. 2005 Aug;29(4):247-51. [PubMed]
13. Jamar M, et al. A low rate of trisomy 21 in twin-pregnancies: a cytogenetics retrospective study of 278 cases. Genet Couns. 2003;14(4):395-400. [PubMed]
14. Simpson JL. Choosing the best prenatal screening protocol. N Engl J Med. 2005 Nov 10;353(19):2068-70. [PubMed]
15. Aït Yahya-Graison E, Aubert J, Dauphinot L et al. Classification of human chromosome 21 gene-expression variations in Down syndrome: impacton disease phenotypes. Am J Hum Genet. 2007 Sep;81(3):475-91. Epub 2007 Jul 19. [PubMed]
16. Hassold T., Abruzzo M., Adkins K., Griffin D., Merrill M., Millie E., Saker D., Shen J., Zaragoza M. Human aneup-loidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996;28(3):167-75. [PubMed]
17. E. Therman, B. Susman and C. Denniston. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet. 1989 Jan;53(Pt 1):49-65.
18. Antonarakis SE, Lewis JG, Adelsberger PA, Petersen MB, Schinzel AA, Binkert F, Schmid W, et al. Parental origin of the extra chromosome in trisomy 21 as indicatedby analysis of DNA polymorphisms. N Engl J Med. 1991 Mar 28;324(13):872-6. [PubMed]
19. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000; 34:297–329.
2. MatiasA,et al .Down syndrome screening in multiple pregnancies. Obstet Gynecol Clin North Am. 2005;32(1):81-96. [PubMed]
3. Cuckle H. Down's syndrome screening in twins.J Med Screen. 1998;5(1):3-4. [PubMed]
4. Palomaki GE, Kloza EM, Haddow JE, Williams J and Knight GJ. Patient and health professional acceptance of inte-grated serum screening for Down syndrome. Semin Perinatol. 2005 Aug;29(4):247-51. [PubMed]
5. Albu D., Albu C., Severin E., Purcarea R. Twin pregnancy with discordancy for Down syndrome, a case report. Euro-pean Journal of Human Genetics, Nature Publishing Group. 2005;173.
6. Cicero S, Bindra R, Rembouskos G, Spencer K and Nicolaides KH. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn. 2003 Apr;23(4):306-10.
7. Nicolaides KH. Nuchal translucency and other first-trimester sono- graphic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004 Jul;191(1):45-67. [PubMed]
8. Nicolaides KH, Azar G, Byrne D, Mansur C and Marks K. Fetal nuchal translucency: ultrasound screening for chro-mosomal defects in first tri- mester of pregnancy. BMJ. 1992 Apr 4;304(6831):867-9. [PubMed]
9. Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O.. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol. 2005 Mar;25(3):221-6.
10. Malone FD, Ball RH, Nyberg DA, Comstock CH, Saade G, Berkowitz RL, Dugoff L, Craigo SD, Carr SR, Wolfe HM et al. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet Gynecol. 2004 Dec;104(6):1222-8. [PubMed]
11. Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, Gross SJ, Dugoff L, Craigo SD et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005 Nov 10;353(19):2001-11. [PubMed]
12. Palomaki GE, Kloza EM, Haddow JE, Williams J and Knight GJ. Patient and health professional acceptance of inte-grated serum screening for Down syndrome. Semin Perinatol. 2005 Aug;29(4):247-51. [PubMed]
13. Jamar M, et al. A low rate of trisomy 21 in twin-pregnancies: a cytogenetics retrospective study of 278 cases. Genet Couns. 2003;14(4):395-400. [PubMed]
14. Simpson JL. Choosing the best prenatal screening protocol. N Engl J Med. 2005 Nov 10;353(19):2068-70. [PubMed]
15. Aït Yahya-Graison E, Aubert J, Dauphinot L et al. Classification of human chromosome 21 gene-expression variations in Down syndrome: impacton disease phenotypes. Am J Hum Genet. 2007 Sep;81(3):475-91. Epub 2007 Jul 19. [PubMed]
16. Hassold T., Abruzzo M., Adkins K., Griffin D., Merrill M., Millie E., Saker D., Shen J., Zaragoza M. Human aneup-loidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996;28(3):167-75. [PubMed]
17. E. Therman, B. Susman and C. Denniston. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet. 1989 Jan;53(Pt 1):49-65.
18. Antonarakis SE, Lewis JG, Adelsberger PA, Petersen MB, Schinzel AA, Binkert F, Schmid W, et al. Parental origin of the extra chromosome in trisomy 21 as indicatedby analysis of DNA polymorphisms. N Engl J Med. 1991 Mar 28;324(13):872-6. [PubMed]
19. Shaffer LG, Lupski JR. Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet. 2000; 34:297–329.
CITATION
DOI: 10.17511/ijmrr.2015.i6.114
Published: 2015-07-31
How to Cite
1.
Albu D-F, Albu C-C, Albu S-D. Twin Pregnancy discordordant for Downs syndrome: Case Report. Int J Med Res Rev [Internet]. 2015Jul.31 [cited 2024Apr.29];3(6):660-4. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/298
Issue
Section
Case Report
OAI - Open Archives Initiative
