Güncel Prenatal Tarama Testi: Hücreden Serbest Fetal DNA Analizi
Yıl 2021,
Cilt: 7 Sayı: 1, 71 - 84, 31.03.2021
Elif Doğan
,
Hüsniye Dinç
Öz
Prenatal tarama testlerinin kullanımı 1970’li yıllarda maternal yaşın değerlendirilmesiyle başlamış; bu serüven maternal yaş, fetal ense kalınlığı ve maternal serum markerlarının kombinasyonlu kullanımıyla devam etmiştir. Aradan geçen 50 yılın ardından prenatal tarama testlerinin geldiği son nokta ise maternal kanda hücreden serbest DNA (cfDNA)’nın analizi olmuştur. Günümüzde hala geleneksel tarama testleri rutin olarak uygulanmasına rağmen cfDNA analizi özellikle yaygın anöploidilerin saptanmasında yüksek başarı göstermekte, hatta trizomi 21 için en güvenilir test olarak değerlendirilmektedir. Yine de bu başarısını genel popülasyonda ve tüm anomalilerin taranmasında koruyamaması cfDNA’yı rutin tarama olarak kullanım dışı bırakmaktadır. cfDNA sonucunu etkileyen faktörlerin varlığı ve düşük dahi olsa yalancı pozitiflik değerinin bulunması cfDNA’nın pozitif sonuç durumlarında invaziv testlerle onaylanmasını zorunlu kılmaktadır. Bu nedenle hala hangi popülasyonda uygulanabileceği tartışması güncelliğini korumaktadır. Bu derlemenin amacı; cfDNA ile ilgili güncel literatür bilgisini paylaşmaktır.
Kaynakça
- American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics (2012). Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics and Gynecology, 120(6), 1532–1534. https://doi.org/10.1097/01.AOG.0000423819.85283.f4
- American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics & Society for Maternal Fetal Medicine (SMFM). (2016). Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstetrics and gynecology, 127(5), e123–e137. https://doi.org/10.1097/AOG.0000000000001406
- Benn, P., Borrell, A., Chiu, R. W., Cuckle, H., Dugoff, L., Faas, B. … Yaron, Y. (2015). Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenatal Diagnosis, 35(8), 725–734. https://doi.org/10.1002/pd.4608
- Benn, P., Valenti, E., Shah, S., Martin, K., & Demko, Z. (2018). Factors Associated With Informative Redraw After an Initial No Result in Noninvasive Prenatal Testing. Obstetrics and Gynecology, 132(2), 428–435. https://doi.org/10.1097/AOG.0000000000002728
- Bianchi, D. W., Chudova, D., Sehnert, A. J., Bhatt, S., Murray, K., Prosen, T. L. … Halks-Miller, M. (2015). Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA, 314(2), 162–169. https://doi.org/10.1001/jama.2015.7120
- Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F. … CARE Study Group (2014). DNA sequencing versus standard prenatal aneuploidy screening. The New England Journal of Medicine, 370(9), 799–808. https://doi.org/10.1056/NEJMoa1311037
- Burns, W., Koelper, N., Barberio, A., Deagostino-Kelly, M., Mennuti, M., Sammel, M. D., & Dugoff, L. (2017). The association between anticoagulation therapy, maternal characteristics, and a failed cfDNA test due to a low fetal fraction. Prenatal Diagnosis, 37(11), 1125–1129. https://doi.org/10.1002/pd.5152
- Cheng, S. B., Davis, S., & Sharma, S. (2018). Maternal-fetal cross talk through cell-free fetal DNA, telomere shortening, microchimerism, and inflammation. American Journal of Reproductive Immunology (New York, N.Y. : 1989), 79(5), e12851. https://doi.org/10.1111/aji.12851
- Contro, E., Bernabini, D., & Farina, A. (2017). Cell-Free Fetal DNA for the Prediction of Pre-Eclampsia at the First and Second Trimesters: A Systematic Review and Meta-Analysis. Molecular Diagnosis & Therapy, 21(2), 125–135. https://doi.org/10.1007/s40291-016-0245-9
- Cotarelo-Pérez, C., Oancea-Ionescu, R., Asenjo-de-la-Fuente, E., Ortega-de-Heredia, D., Soler-Ruiz, P., Coronado-Martín, P., & Fenollar-Cortés, M. (2019). A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 1, 100002. https://doi.org/10.1016/j.eurox.2019.100002
- Curnow, K. J., Wilkins-Haug, L., Ryan, A., Kırkızlar, E., Stosic, M., Hall, M. P. … Gross, S. J. (2015). Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. American Journal of Obstetrics and Gynecology, 212(1), 79.e1–79.e799. https://doi.org/10.1016/j.ajog.2014.10.012
- Gerson, K. D., Truong, S., Haviland, M. J., O'Brien, B. M., Hacker, M. R., & Spiel, M. H. (2019). Low fetal fraction of cell-free DNA predicts placental dysfunction and hypertensive disease in pregnancy. Pregnancy Hypertension, 16, 148–153. https://doi.org/10.1016/j.preghy.2019.04.002
- Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017). Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology: The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 50(3), 302–314. https://doi.org/10.1002/uog.17484
- Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology : The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 45(3), 249–266. https://doi.org/10.1002/uog.14791
- Goldwaser, T., & Klugman, S. (2018). Cell-free DNA for the detection of fetal aneuploidy. Fertility and Sterility, 109(2), 195–200. https://doi.org/10.1016/j.fertnstert.2017.12.019
- Gregg, A. R., Skotko, B. G., Benkendorf, J. L., Monaghan, K. G., Bajaj, K., Best, R. G. … Watson, M. S. (2016). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genetics in Medicine : Official Journal of The American College of Medical Genetics, 18(10), 1056–1065. https://doi.org/10.1038/gim.2016.97
- Hartwig, T. S., Ambye, L., Werge, L., Weiergang, M. K., Nørgaard, P., Sørensen, S., & Jørgensen, F. S. (2018). Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. European Journal of Obstetrics, Gynecology, and Reproductive Biology, 226, 35–39. https://doi.org/10.1016/j.ejogrb.2018.04.042
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CURRENT PRENATAL SCREENING TEST: Cell Free Fetal DNA Analysis
Yıl 2021,
Cilt: 7 Sayı: 1, 71 - 84, 31.03.2021
Elif Doğan
,
Hüsniye Dinç
Öz
Prenatal tarama testlerinin kullanımı 1970’li yıllarda maternal yaşın değerlendirilmesiyle başlamış; bu serüven maternal yaş, fetal ense kalınlığı ve maternal serum markerlarının kombinasyonlu kullanımıyla devam etmiştir. Aradan geçen 50 yılın ardından prenatal tarama testlerinin geldiği son nokta ise maternal kanda hücreden serbest DNA (cfDNA)’nın analizi olmuştur. Günümüzde hala geleneksel tarama testleri rutin olarak uygulanmasına rağmen cfDNA analizi özellikle yaygın anöploidilerin saptanmasında yüksek başarı göstermekte, hatta trizomi 21 için en güvenilir test olarak değerlendirilmektedir. Yine de bu başarısını genel popülasyonda ve tüm anomalilerin taranmasında koruyamaması cfDNA’yı rutin tarama olarak kullanım dışı bırakmaktadır. cfDNA sonucunu etkileyen faktörlerin varlığı ve düşük dahi olsa yalancı pozitiflik değerinin bulunması cfDNA’nın pozitif sonuç durumlarında invaziv testlerle onaylanmasını zorunlu kılmaktadır. Bu nedenle hala hangi popülasyonda uygulanabileceği tartışması güncelliğini korumaktadır. Bu derlemenin amacı; cfDNA ile ilgili güncel literatür bilgisini paylaşmaktır.
Kaynakça
- American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics (2012). Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstetrics and Gynecology, 120(6), 1532–1534. https://doi.org/10.1097/01.AOG.0000423819.85283.f4
- American College of Obstetricians and Gynecologists (ACOG) Committee on Genetics & Society for Maternal Fetal Medicine (SMFM). (2016). Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstetrics and gynecology, 127(5), e123–e137. https://doi.org/10.1097/AOG.0000000000001406
- Benn, P., Borrell, A., Chiu, R. W., Cuckle, H., Dugoff, L., Faas, B. … Yaron, Y. (2015). Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenatal Diagnosis, 35(8), 725–734. https://doi.org/10.1002/pd.4608
- Benn, P., Valenti, E., Shah, S., Martin, K., & Demko, Z. (2018). Factors Associated With Informative Redraw After an Initial No Result in Noninvasive Prenatal Testing. Obstetrics and Gynecology, 132(2), 428–435. https://doi.org/10.1097/AOG.0000000000002728
- Bianchi, D. W., Chudova, D., Sehnert, A. J., Bhatt, S., Murray, K., Prosen, T. L. … Halks-Miller, M. (2015). Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies. JAMA, 314(2), 162–169. https://doi.org/10.1001/jama.2015.7120
- Bianchi, D. W., Parker, R. L., Wentworth, J., Madankumar, R., Saffer, C., Das, A. F. … CARE Study Group (2014). DNA sequencing versus standard prenatal aneuploidy screening. The New England Journal of Medicine, 370(9), 799–808. https://doi.org/10.1056/NEJMoa1311037
- Burns, W., Koelper, N., Barberio, A., Deagostino-Kelly, M., Mennuti, M., Sammel, M. D., & Dugoff, L. (2017). The association between anticoagulation therapy, maternal characteristics, and a failed cfDNA test due to a low fetal fraction. Prenatal Diagnosis, 37(11), 1125–1129. https://doi.org/10.1002/pd.5152
- Cheng, S. B., Davis, S., & Sharma, S. (2018). Maternal-fetal cross talk through cell-free fetal DNA, telomere shortening, microchimerism, and inflammation. American Journal of Reproductive Immunology (New York, N.Y. : 1989), 79(5), e12851. https://doi.org/10.1111/aji.12851
- Contro, E., Bernabini, D., & Farina, A. (2017). Cell-Free Fetal DNA for the Prediction of Pre-Eclampsia at the First and Second Trimesters: A Systematic Review and Meta-Analysis. Molecular Diagnosis & Therapy, 21(2), 125–135. https://doi.org/10.1007/s40291-016-0245-9
- Cotarelo-Pérez, C., Oancea-Ionescu, R., Asenjo-de-la-Fuente, E., Ortega-de-Heredia, D., Soler-Ruiz, P., Coronado-Martín, P., & Fenollar-Cortés, M. (2019). A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening. European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 1, 100002. https://doi.org/10.1016/j.eurox.2019.100002
- Curnow, K. J., Wilkins-Haug, L., Ryan, A., Kırkızlar, E., Stosic, M., Hall, M. P. … Gross, S. J. (2015). Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. American Journal of Obstetrics and Gynecology, 212(1), 79.e1–79.e799. https://doi.org/10.1016/j.ajog.2014.10.012
- Gerson, K. D., Truong, S., Haviland, M. J., O'Brien, B. M., Hacker, M. R., & Spiel, M. H. (2019). Low fetal fraction of cell-free DNA predicts placental dysfunction and hypertensive disease in pregnancy. Pregnancy Hypertension, 16, 148–153. https://doi.org/10.1016/j.preghy.2019.04.002
- Gil, M. M., Accurti, V., Santacruz, B., Plana, M. N., & Nicolaides, K. H. (2017). Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology: The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 50(3), 302–314. https://doi.org/10.1002/uog.17484
- Gil, M. M., Quezada, M. S., Revello, R., Akolekar, R., & Nicolaides, K. H. (2015). Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound in Obstetrics & Gynecology : The Official Journal of The International Society of Ultrasound in Obstetrics and Gynecology, 45(3), 249–266. https://doi.org/10.1002/uog.14791
- Goldwaser, T., & Klugman, S. (2018). Cell-free DNA for the detection of fetal aneuploidy. Fertility and Sterility, 109(2), 195–200. https://doi.org/10.1016/j.fertnstert.2017.12.019
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