Yıl 1996,
Cilt: 1 Sayı: 1, 15 - 18, 30.11.1996
Semih Özderen
Aydın Çorakçı
İzzet Yücesoy
Meltem Özkan
Öz
Within
recent years prenatal diagnosis has become possible for increasing numbers of
diseases by means of incredible advance in labaratory techniques. For all
pregnancies it must be a standart practice to detemine whether the couple, or
anyone in their families, has a disorder that might prove heritable. In this
paper we shall review the basic principles of genetic counseling and common
screening tests that are used in prenatal diagnosis.
Kaynakça
- Reading JP, Huffman JL, Wu JC, et al. Nucleated erythrocytes in maternal blood: quantity and quality of fetal cells in enriched populations. MHR: Basic science of reproductive medicine. 1995;1(7);362-367. doi: 10.1093/molehrlı.7.362
- Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci USA. 1996:93(2):705-708. doi:10.1073/pnas.93.2.705
- Bahado-Singh RO, Kliman H, Feng TY, Hobbins J, Copel JA, Mahoney MJ. First-trimester endocervical irrigation: feasibility of obtaining trophoblast cells for prenatal diagnosis. Obstetrics & Gynecology. 1995;85(3):461-464. doi: 10.1016/0029-7844(94)00416-B
- Brock D, Sutcliffe RG. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. The Lancet. 1972;300(7770):197-199. doi:10.1016/S0140-6736(72)91634-0
- Macri JN, Kasturi RV, Krantz DA, Cook EJ, Sunderji SG, Larsen JW. Maternal serum Down syndrome screening: unconjugated estriol is not useful. American journal of obstetrics and gynecology. 1990;162(3);672-673. doi: 10.1016/0002-9378(90)90980-L
- Wald NJ, Cuckle H, Brock JH, Peto R, Polani PE, Woodford FP. Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of UK collaborative study on alpha-fetoprotein in relation to neural-tube defects. Lancet (London, England). 1977;1(8026):1323-1332.
- Milunsky A, Sapirstein VS. Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstetrics and gynecology. 1982;59(1):1-5.
- American College of Obstetricians and Gynecologists. Alpha-fetoprotein. Technical Bulletin. no.154, Int J Gynaecol Obstet. 1992;38(3):241-247.
- Richards DS, Seeds JW, Katz VL, Lingley LH, Albright SG, Cefalo RC. Elevated maternal serum alpha-fetoprotein with normal ultrasound: is amniocentesis always appropriate? A review of 26,069 screened patients. Obstetrics and gynecology. 1988;71(2):203-207.
- ıWatson WJ, Chescher NC, Katz VL, Seeds JW: The role of ultrasound in evalriation of patients with elevated matemal senim alpha-fetoprotein: A review. Obstetrics and gynecology.1991;78(1):123-128.
- Nadel AS, Green JK, Holmes LB, Frigoletto FD, Benacerraf BR. Absence of need for amniocentesis in patients with elevated levels of maternal serum alpha-fetoprotein and normal ultrasonographic examinations. New England Journal of Medicine. 1990;323(9):557-561. doi:10.1056/NEJM199008303230901
- Drugan A, Zador IE, Syner FN, Sokol RJ, Sacks AJ, Evans MI. A normal ultrasound does not obviate the need for amniocentesis in patients with elevated serum alpha-fetoprotein. Obstetrics and gynecology. 1988;72(4):627-630.
- Evans MI, Dvorin E, O’Brien JE, Moody JL, Drugan A. Alpha-fetoprotein and biochemical screening. In: Evans MI, ed. Reproductive risks and prenatal diagnosis. Appleton-Lange; 1992:223.
- Katz VL, Chescheir NC, Cefalo RC, Unexplained elevations of maternal serum alpha-fetoprotein. Obstetrical & gynecological survey. 1990;45(11):719-726.
- Waller DK, Lustig LS, Cunningham GC, Golbus MS, Hook EB. Second-trimestr maternal serum alplw-fetoprolein levels and the risk of subsequent fetal death. N Engl J Med 1991;325:6-10. doi:10.1056/NEJM199107043250102
- Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities. American journal of obstetrics and gynecology. 1984;148(7);886-894. doi: 10.1016/0002-9378(84)90530-1
- Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA. Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. New England Journal of Medicine. 1994;330(16):1114-1118. doi: 10.1056/NEJM199404213301603
- Simpson JL, Baum LD, Marder R, Elias S, Ober C, Martin AO. Maternal serum α-fetoprotein screening: low and high values for detection of genetic abnormalities. American journal of obstetrics and gynecology. 1986;155(3):593-597. doi: 10.1016/0002-9378(86)90285-1
- Palomaki GE, Williams J, Haddow JE. New England regional genetics group prenatal collaborative study of Down syndrome screening: Combining maternal serum alpha-fetoprotein measurements and age to screen for Down syndrome in pregnant women under age 35. American Journal of Obstetrics and Gynecology. 1989;160:578-581.
- Wald NJ, Cuckle HS, Densem JM, et al. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. BJOG: An International Journal of Obstetrics & Gynaecology. 1988;95(4):334-341.
- 2MacDONALD ML, Wagner RM, Slotnick RN. Sensitivity and specificity of screening for Down syndrome with alpha-fetoprotein, hCG, unconjugated estriol, and maternal age. Obstetrics and gynecology.1991;77(1):63-68.
- Barkai G, Chaki R, Sochat M, Goldman B. Human chorionic gonadotrophin and trisomy ı8. American Journal of Medical Genetics. 1991;41(1):52-53.
- Watson WJ, Miller RC, Menard MK, et al. Ultrasonographic measurement of fetal nuchal skin to screen for chromosomal abnormalities. American Journal of Obstetrics and Gynecology. 1994;170(2):583-586. doi: 10.1016/S0002-9378(94)70232-2
- Bowman JE. Prenatal screening for hemoglobinopathies. American Journal of Human Genetics. 1991;48(3):433.
- Rowley PT, Loader S, Sutera CJ, Walden M, Kozyra A. Prenatal screening for hemoglobinopathies. I. A prospective regional trial. American journal of human genetics. 1991;48(3):439.
Yıl 1996,
Cilt: 1 Sayı: 1, 15 - 18, 30.11.1996
Semih Özderen
Aydın Çorakçı
İzzet Yücesoy
Meltem Özkan
Öz
Laboratuvar
tekniklerindeki inanılmaz gelişme sayesinde, son yıllarda birçok hastalığın
prenatal tanısı mümkün olmuştur. Tüm gebeliklerde çiftin veya ailelerinden
herhangi bir bireyin kalıtsal bir hastalığa sahip olup olmadığını rutin olarak
belirlenmelidir. Bir yazıda genetik danışmanın temel prensipleri ve prenatal
tanıda sık kullanılan tarama testleri gözden geçirilecektir.
Kaynakça
- Reading JP, Huffman JL, Wu JC, et al. Nucleated erythrocytes in maternal blood: quantity and quality of fetal cells in enriched populations. MHR: Basic science of reproductive medicine. 1995;1(7);362-367. doi: 10.1093/molehrlı.7.362
- Bianchi DW, Zickwolf GK, Weil GJ, Sylvester S, DeMaria MA. Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum. Proc Natl Acad Sci USA. 1996:93(2):705-708. doi:10.1073/pnas.93.2.705
- Bahado-Singh RO, Kliman H, Feng TY, Hobbins J, Copel JA, Mahoney MJ. First-trimester endocervical irrigation: feasibility of obtaining trophoblast cells for prenatal diagnosis. Obstetrics & Gynecology. 1995;85(3):461-464. doi: 10.1016/0029-7844(94)00416-B
- Brock D, Sutcliffe RG. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. The Lancet. 1972;300(7770):197-199. doi:10.1016/S0140-6736(72)91634-0
- Macri JN, Kasturi RV, Krantz DA, Cook EJ, Sunderji SG, Larsen JW. Maternal serum Down syndrome screening: unconjugated estriol is not useful. American journal of obstetrics and gynecology. 1990;162(3);672-673. doi: 10.1016/0002-9378(90)90980-L
- Wald NJ, Cuckle H, Brock JH, Peto R, Polani PE, Woodford FP. Maternal serum-alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. Report of UK collaborative study on alpha-fetoprotein in relation to neural-tube defects. Lancet (London, England). 1977;1(8026):1323-1332.
- Milunsky A, Sapirstein VS. Prenatal diagnosis of open neural tube defects using the amniotic fluid acetylcholinesterase assay. Obstetrics and gynecology. 1982;59(1):1-5.
- American College of Obstetricians and Gynecologists. Alpha-fetoprotein. Technical Bulletin. no.154, Int J Gynaecol Obstet. 1992;38(3):241-247.
- Richards DS, Seeds JW, Katz VL, Lingley LH, Albright SG, Cefalo RC. Elevated maternal serum alpha-fetoprotein with normal ultrasound: is amniocentesis always appropriate? A review of 26,069 screened patients. Obstetrics and gynecology. 1988;71(2):203-207.
- ıWatson WJ, Chescher NC, Katz VL, Seeds JW: The role of ultrasound in evalriation of patients with elevated matemal senim alpha-fetoprotein: A review. Obstetrics and gynecology.1991;78(1):123-128.
- Nadel AS, Green JK, Holmes LB, Frigoletto FD, Benacerraf BR. Absence of need for amniocentesis in patients with elevated levels of maternal serum alpha-fetoprotein and normal ultrasonographic examinations. New England Journal of Medicine. 1990;323(9):557-561. doi:10.1056/NEJM199008303230901
- Drugan A, Zador IE, Syner FN, Sokol RJ, Sacks AJ, Evans MI. A normal ultrasound does not obviate the need for amniocentesis in patients with elevated serum alpha-fetoprotein. Obstetrics and gynecology. 1988;72(4):627-630.
- Evans MI, Dvorin E, O’Brien JE, Moody JL, Drugan A. Alpha-fetoprotein and biochemical screening. In: Evans MI, ed. Reproductive risks and prenatal diagnosis. Appleton-Lange; 1992:223.
- Katz VL, Chescheir NC, Cefalo RC, Unexplained elevations of maternal serum alpha-fetoprotein. Obstetrical & gynecological survey. 1990;45(11):719-726.
- Waller DK, Lustig LS, Cunningham GC, Golbus MS, Hook EB. Second-trimestr maternal serum alplw-fetoprolein levels and the risk of subsequent fetal death. N Engl J Med 1991;325:6-10. doi:10.1056/NEJM199107043250102
- Merkatz IR, Nitowsky HM, Macri JN, Johnson WE. An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities. American journal of obstetrics and gynecology. 1984;148(7);886-894. doi: 10.1016/0002-9378(84)90530-1
- Haddow JE, Palomaki GE, Knight GJ, Cunningham GC, Lustig LS, Boyd PA. Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening. New England Journal of Medicine. 1994;330(16):1114-1118. doi: 10.1056/NEJM199404213301603
- Simpson JL, Baum LD, Marder R, Elias S, Ober C, Martin AO. Maternal serum α-fetoprotein screening: low and high values for detection of genetic abnormalities. American journal of obstetrics and gynecology. 1986;155(3):593-597. doi: 10.1016/0002-9378(86)90285-1
- Palomaki GE, Williams J, Haddow JE. New England regional genetics group prenatal collaborative study of Down syndrome screening: Combining maternal serum alpha-fetoprotein measurements and age to screen for Down syndrome in pregnant women under age 35. American Journal of Obstetrics and Gynecology. 1989;160:578-581.
- Wald NJ, Cuckle HS, Densem JM, et al. Maternal serum unconjugated oestriol as an antenatal screening test for Down's syndrome. BJOG: An International Journal of Obstetrics & Gynaecology. 1988;95(4):334-341.
- 2MacDONALD ML, Wagner RM, Slotnick RN. Sensitivity and specificity of screening for Down syndrome with alpha-fetoprotein, hCG, unconjugated estriol, and maternal age. Obstetrics and gynecology.1991;77(1):63-68.
- Barkai G, Chaki R, Sochat M, Goldman B. Human chorionic gonadotrophin and trisomy ı8. American Journal of Medical Genetics. 1991;41(1):52-53.
- Watson WJ, Miller RC, Menard MK, et al. Ultrasonographic measurement of fetal nuchal skin to screen for chromosomal abnormalities. American Journal of Obstetrics and Gynecology. 1994;170(2):583-586. doi: 10.1016/S0002-9378(94)70232-2
- Bowman JE. Prenatal screening for hemoglobinopathies. American Journal of Human Genetics. 1991;48(3):433.
- Rowley PT, Loader S, Sutera CJ, Walden M, Kozyra A. Prenatal screening for hemoglobinopathies. I. A prospective regional trial. American journal of human genetics. 1991;48(3):439.