메뉴 건너뛰기




Volumn 40, Issue 1, 2016, Pages 3-11

What is prenatal screening and why to do it?

Author keywords

Aneuploidy screening; Genetic screening; Prenatal screening

Indexed keywords

ANEUPLOIDY; CONGENITAL MALFORMATION; DOWN SYNDROME; FALSE POSITIVE RESULT; FETUS ECHOGRAPHY; GAUCHER DISEASE; GENETIC SCREENING; HUMAN; MASS SCREENING; MENINGOMYELOCELE; MONOSOMY X; NEURAL TUBE DEFECT; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; TAY SACHS DISEASE; TRISOMY 21; TURNER SYNDROME; AMNIOCENTESIS; BLOOD; CHORION VILLUS SAMPLING; CHROMOSOME DISORDERS; CONGENITAL ABNORMALITIES; FEMALE; FETUS; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES;

EID: 84959113973     PISSN: 01460005     EISSN: 1558075X     Source Type: Journal    
DOI: 10.1053/j.semperi.2015.11.002     Document Type: Review
Times cited : (12)

References (52)
  • 2
    • 0035251652 scopus 로고    scopus 로고
    • Screening for cancer: evaluating the evidence
    • Gates T.J. Screening for cancer: evaluating the evidence. Am Fam Physician 2001, 63(3):513-522.
    • (2001) Am Fam Physician , vol.63 , Issue.3 , pp. 513-522
    • Gates, T.J.1
  • 6
    • 84921265729 scopus 로고    scopus 로고
    • Racial/ethnic differences in the birth prevalence of congenital anomalies in the United States
    • Egbe A., Lee S., Ho D., Uppu S., Srivastava S. Racial/ethnic differences in the birth prevalence of congenital anomalies in the United States. J Perinat Med 2015, 43(1):111-117. 10.1515/jpm-2013-0344.
    • (2015) J Perinat Med , vol.43 , Issue.1 , pp. 111-117
    • Egbe, A.1    Lee, S.2    Ho, D.3    Uppu, S.4    Srivastava, S.5
  • 7
    • 84959177492 scopus 로고    scopus 로고
    • eds. SEER Cancer Statistics Review, 1975-2011, National Cancer Institute;Bethesda, MD, [based on November 2013 SEER data submission, posted to the SEER web site, April]
    • Howlader N, Noone AM, Krapcho M, et al., eds. SEER Cancer Statistics Review, 1975-2011, National Cancer Institute;Bethesda, MD, [based on November 2013 SEER data submission, posted to the SEER web site, April] 2014. http://seer.cancer.gov/csr/1975_2011/.
    • (2014)
    • Howlader, N.1    Noone, A.M.2    Krapcho, M.3
  • 8
    • 84903302055 scopus 로고    scopus 로고
    • In utero repair of spina bifida
    • [2014 May 12]
    • Moldenhauer J.S. In utero repair of spina bifida. Am J Perinatol 2014, 31(7):595-604. [2014 May 12]. 10.1055/s-0034-1372429.
    • (2014) Am J Perinatol , vol.31 , Issue.7 , pp. 595-604
    • Moldenhauer, J.S.1
  • 9
    • 34547608773 scopus 로고    scopus 로고
    • Myelomeningocele: a review of the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals
    • Shaer C.M., Chescheir N., Schulkin J. Myelomeningocele: a review of the epidemiology, genetics, risk factors for conception, prenatal diagnosis, and prognosis for affected individuals. Obstet Gynecol Surv 2007, 62(7):471-479.
    • (2007) Obstet Gynecol Surv , vol.62 , Issue.7 , pp. 471-479
    • Shaer, C.M.1    Chescheir, N.2    Schulkin, J.3
  • 10
    • 84872106848 scopus 로고    scopus 로고
    • Committee opinion no. 550: maternal-fetal surgery for myelomeningocele
    • American College of Obstetricians and Gynecologists ACOG Committee opinion no. 550: maternal-fetal surgery for myelomeningocele. Obstet Gynecol 2013, 121(1):218-219.
    • (2013) Obstet Gynecol , vol.121 , Issue.1 , pp. 218-219
  • 11
    • 79952810327 scopus 로고    scopus 로고
    • A randomized trial of prenatal versus postnatal repair of myelomeningocele
    • Adzick N.S., Thom E.A., Spong C.Y., et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med 2011, 364(11):993-1004.
    • (2011) N Engl J Med , vol.364 , Issue.11 , pp. 993-1004
    • Adzick, N.S.1    Thom, E.A.2    Spong, C.Y.3
  • 14
    • 84884670075 scopus 로고    scopus 로고
    • Current estimate of Down syndrome population prevalence in the United States
    • Presson A.P., Partyka G., Jensen K.M., et al. Current estimate of Down syndrome population prevalence in the United States. J Pediatr 2013, 163(4):1163-1168.
    • (2013) J Pediatr , vol.163 , Issue.4 , pp. 1163-1168
    • Presson, A.P.1    Partyka, G.2    Jensen, K.M.3
  • 15
    • 84880304596 scopus 로고    scopus 로고
    • Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population
    • Song K., Musci T.J., Caughey A.B. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med 2013, 26(12):1180-1185.
    • (2013) J Matern Fetal Neonatal Med , vol.26 , Issue.12 , pp. 1180-1185
    • Song, K.1    Musci, T.J.2    Caughey, A.B.3
  • 16
    • 23644460690 scopus 로고    scopus 로고
    • First trimester screening: economic implications
    • [Review]
    • Macones G.A., Odibo A. First trimester screening: economic implications. Semin Perinatol 2005, 29(4):263-266. [Review].
    • (2005) Semin Perinatol , vol.29 , Issue.4 , pp. 263-266
    • Macones, G.A.1    Odibo, A.2
  • 18
    • 84941918030 scopus 로고    scopus 로고
    • An overview on prenatal screening for chromosomal aberrations
    • Hixson L., Goel S., Schuber P., et al. An overview on prenatal screening for chromosomal aberrations. J Lab Autom 2015.
    • (2015) J Lab Autom
    • Hixson, L.1    Goel, S.2    Schuber, P.3
  • 19
    • 84923584486 scopus 로고    scopus 로고
    • Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the american college of medical genetics and genomics, american college of obstetricians and gynecologists, national society of genetic counselors, perinatal quality foundation, and society for maternal-fetal medicine
    • Edwards J.G., Feldman G., Goldberg J., et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the american college of medical genetics and genomics, american college of obstetricians and gynecologists, national society of genetic counselors, perinatal quality foundation, and society for maternal-fetal medicine. Obstet Gynecol 2015, 125(3):653-662.
    • (2015) Obstet Gynecol , vol.125 , Issue.3 , pp. 653-662
    • Edwards, J.G.1    Feldman, G.2    Goldberg, J.3
  • 20
    • 70349678533 scopus 로고    scopus 로고
    • ACOG Committee opinion no. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
    • ACOG committee on genetics ACOG Committee opinion no. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol 2009, 114(4):950-953.
    • (2009) Obstet Gynecol , vol.114 , Issue.4 , pp. 950-953
  • 21
    • 85027936614 scopus 로고    scopus 로고
    • Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals
    • ACMG work group on diagnostic confirmation of lysosomal storage diseases
    • Wang R.Y., Bodamer O.A., Watson M.S., Wilcox W.R., ACMG work group on diagnostic confirmation of lysosomal storage diseases Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med 2011, 13(5):457-484.
    • (2011) Genet Med , vol.13 , Issue.5 , pp. 457-484
    • Wang, R.Y.1    Bodamer, O.A.2    Watson, M.S.3    Wilcox, W.R.4
  • 22
    • 84899980459 scopus 로고    scopus 로고
    • Fetal imaging: executive summary of a joint eunice kennedy shriver national institute of child health and human development, society for maternal-fetal medicine, american institute of ultrasound in medicine, american college of obstetricians and gynecologists, american college of radiology, society for pediatric radiology, and society of radiologists in ultrasound fetal imaging workshop
    • Fetal imaging workshop invited participants
    • Reddy U.M., Abuhamad A.Z., Levine D., Saade G.R., Fetal imaging workshop invited participants Fetal imaging: executive summary of a joint eunice kennedy shriver national institute of child health and human development, society for maternal-fetal medicine, american institute of ultrasound in medicine, american college of obstetricians and gynecologists, american college of radiology, society for pediatric radiology, and society of radiologists in ultrasound fetal imaging workshop. Am J Obstet Gynecol 2014, 210(5):387-397.
    • (2014) Am J Obstet Gynecol , vol.210 , Issue.5 , pp. 387-397
    • Reddy, U.M.1    Abuhamad, A.Z.2    Levine, D.3    Saade, G.R.4
  • 23
    • 84920411644 scopus 로고    scopus 로고
    • Detailed transabdominal fetal anatomic scanning in the late first trimester versus the early second trimester of pregnancy
    • Yagel S., Cohen S.M., Porat S., et al. Detailed transabdominal fetal anatomic scanning in the late first trimester versus the early second trimester of pregnancy. J Ultrasound Med 2015, 34(1):143-149.
    • (2015) J Ultrasound Med , vol.34 , Issue.1 , pp. 143-149
    • Yagel, S.1    Cohen, S.M.2    Porat, S.3
  • 24
    • 0033652915 scopus 로고    scopus 로고
    • Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group
    • Clementi M., Tenconi R., Bianchi F., Stoll C. Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group. Prenat Diagn 2000, 20(11):870-875.
    • (2000) Prenat Diagn , vol.20 , Issue.11 , pp. 870-875
    • Clementi, M.1    Tenconi, R.2    Bianchi, F.3    Stoll, C.4
  • 25
    • 0033744873 scopus 로고    scopus 로고
    • Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group
    • Stoll C., Wiesel A., Queisser-Luft A., Froster U., Bianca S., Clementi M. Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group. Prenat Diagn 2000, 20(10):811-818.
    • (2000) Prenat Diagn , vol.20 , Issue.10 , pp. 811-818
    • Stoll, C.1    Wiesel, A.2    Queisser-Luft, A.3    Froster, U.4    Bianca, S.5    Clementi, M.6
  • 26
    • 84959108649 scopus 로고    scopus 로고
    • The utility of ultrasound for the detection of fetal limb abnormalities-a 20-year single-center experience
    • Dicke J.M., Piper S.L., Goldfarb C.A. The utility of ultrasound for the detection of fetal limb abnormalities-a 20-year single-center experience. Prenat Diagn 2014.
    • (2014) Prenat Diagn
    • Dicke, J.M.1    Piper, S.L.2    Goldfarb, C.A.3
  • 27
    • 84863717970 scopus 로고    scopus 로고
    • The evolution of prenatal screening and diagnosis and its impact on an unselected population over an 18-year period
    • Boyd P.A., Rounding C., Chamberlain P., Wellesley D., Kurinczuk J.J. The evolution of prenatal screening and diagnosis and its impact on an unselected population over an 18-year period. Br J Obstet Gynecol 2012, 119(9):1131-1140.
    • (2012) Br J Obstet Gynecol , vol.119 , Issue.9 , pp. 1131-1140
    • Boyd, P.A.1    Rounding, C.2    Chamberlain, P.3    Wellesley, D.4    Kurinczuk, J.J.5
  • 28
    • 0027453983 scopus 로고
    • A randomized trial of prenatal ultrasonographic screening: impact on maternal management and outcome. RADIUS (Routine Antenatal Diagnostic Imaging with Ultrasound) Study Group
    • LeFevre M.L., Bain R.P., Ewigman B.G., Frigoletto F.D., Crane J.P., McNellis D. A randomized trial of prenatal ultrasonographic screening: impact on maternal management and outcome. RADIUS (Routine Antenatal Diagnostic Imaging with Ultrasound) Study Group. Am J Obstet Gynecol 1993, 169(3):483-489.
    • (1993) Am J Obstet Gynecol , vol.169 , Issue.3 , pp. 483-489
    • LeFevre, M.L.1    Bain, R.P.2    Ewigman, B.G.3    Frigoletto, F.D.4    Crane, J.P.5    McNellis, D.6
  • 32
    • 84870156368 scopus 로고    scopus 로고
    • Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy
    • American College of Obstetricians and Gynecologists Committee on Genetics Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012, 120(6):1532-1534.
    • (2012) Obstet Gynecol , vol.120 , Issue.6 , pp. 1532-1534
  • 33
    • 84876270082 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint
    • Norton M.E., Rose N.C., Benn P. Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint. Obstet Gynecol 2013, 121(4):847-850.
    • (2013) Obstet Gynecol , vol.121 , Issue.4 , pp. 847-850
    • Norton, M.E.1    Rose, N.C.2    Benn, P.3
  • 34
    • 84880045096 scopus 로고    scopus 로고
    • Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for prenatal diagnosis
    • Benn P., Borell A., Chiu R., et al. Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for prenatal diagnosis. Prenat Diagn 2013, 33(7):622-629.
    • (2013) Prenat Diagn , vol.33 , Issue.7 , pp. 622-629
    • Benn, P.1    Borell, A.2    Chiu, R.3
  • 35
    • 84926492837 scopus 로고    scopus 로고
    • Cell-free DNA analysis for noninvasive examination of trisomy
    • Norton M.E., Jacobsson B., Swamy G.K., et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015, 372(17):1589-1597.
    • (2015) N Engl J Med , vol.372 , Issue.17 , pp. 1589-1597
    • Norton, M.E.1    Jacobsson, B.2    Swamy, G.K.3
  • 36
    • 84880042743 scopus 로고    scopus 로고
    • Maternal cfDNA screening for Down syndrome-a cost sensitivity analysis
    • Cuckle H., Benn P., Pergament E. Maternal cfDNA screening for Down syndrome-a cost sensitivity analysis. Prenat Diagn 2013, 33(7):636-642.
    • (2013) Prenat Diagn , vol.33 , Issue.7 , pp. 636-642
    • Cuckle, H.1    Benn, P.2    Pergament, E.3
  • 37
    • 84880304596 scopus 로고    scopus 로고
    • Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population
    • Song K., Musci T.J., Caughey A.B. Clinical utility and cost of non-invasive prenatal testing with cfDNA analysis in high-risk women based on a US population. J Matern Fetal Neonatal Med 2013, 26(12):1180-1185.
    • (2013) J Matern Fetal Neonatal Med , vol.26 , Issue.12 , pp. 1180-1185
    • Song, K.1    Musci, T.J.2    Caughey, A.B.3
  • 38
    • 0141640932 scopus 로고    scopus 로고
    • AIUM Practice guideline for the performance of an antepartum obstetric ultrasound examination
    • American Institute of Ultrasound in Medicine AIUM Practice guideline for the performance of an antepartum obstetric ultrasound examination. J Ultrasound Med 2003, 22(10):1116-1125.
    • (2003) J Ultrasound Med , vol.22 , Issue.10 , pp. 1116-1125
  • 39
    • 33845942655 scopus 로고    scopus 로고
    • ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities
    • ACOG Committee on Practice Bulletins ACOG practice bulletin no. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007, 109(1):217-227.
    • (2007) Obstet Gynecol , vol.109 , Issue.1 , pp. 217-227
  • 40
    • 19944432946 scopus 로고    scopus 로고
    • Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies
    • Tang H., Quertermous T., Rodriguez B., et al. Genetic structure, self-identified race/ethnicity, and confounding in case-control association studies. Am J Hum Genet 2005, 76(2):268-275.
    • (2005) Am J Hum Genet , vol.76 , Issue.2 , pp. 268-275
    • Tang, H.1    Quertermous, T.2    Rodriguez, B.3
  • 41
    • 77958553386 scopus 로고    scopus 로고
    • Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records
    • Dumitrescu L., Ritchie M.D., Brown-Gentry K., et al. Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records. Genet Med 2010, 12(10):648-650.
    • (2010) Genet Med , vol.12 , Issue.10 , pp. 648-650
    • Dumitrescu, L.1    Ritchie, M.D.2    Brown-Gentry, K.3
  • 42
    • 0037985013 scopus 로고    scopus 로고
    • Racial and ethnic disparities in birth outcomes: a life-course perspective
    • [Review. PubMed PMID: 12710797]
    • Lu M.C., Halfon N. Racial and ethnic disparities in birth outcomes: a life-course perspective. Matern Child Health J 2003, 7(1):13-30. [Review. PubMed PMID: 12710797].
    • (2003) Matern Child Health J , vol.7 , Issue.1 , pp. 13-30
    • Lu, M.C.1    Halfon, N.2
  • 43
    • 84977846260 scopus 로고    scopus 로고
    • State Medicaid Coverage of Perinatal Services: A Summary of Findings. https://kaiserfamilyfoundation.files.wordpress.com/2013/01/8014.pdf.
  • 44
    • 84857682139 scopus 로고    scopus 로고
    • National trends in health insurance coverage of pregnant and reproductive-age women, 2000 to 2009
    • Kozhimannil K.B., Abraham J.M., Virnig B.A. National trends in health insurance coverage of pregnant and reproductive-age women, 2000 to 2009. Womens Health Issues 2012, 22(2):e135-e141.
    • (2012) Womens Health Issues , vol.22 , Issue.2 , pp. e135-e141
    • Kozhimannil, K.B.1    Abraham, J.M.2    Virnig, B.A.3
  • 45
    • 84925581149 scopus 로고    scopus 로고
    • Genetic screening and testing in an episode-based payment model: preserving patient autonomy
    • Sutherland S., Farrell R.M., Lockwood C. Genetic screening and testing in an episode-based payment model: preserving patient autonomy. Obstet Gynecol 2014, 124(5):987-991.
    • (2014) Obstet Gynecol , vol.124 , Issue.5 , pp. 987-991
    • Sutherland, S.1    Farrell, R.M.2    Lockwood, C.3
  • 47
    • 84906792092 scopus 로고    scopus 로고
    • The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine
    • Friel L.A., Czerwinski J.L., Singletary C.N. The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. Am J Perinatol 2014, 31(9):759-764. 10.1055/s-0033-1359717.
    • (2014) Am J Perinatol , vol.31 , Issue.9 , pp. 759-764
    • Friel, L.A.1    Czerwinski, J.L.2    Singletary, C.N.3
  • 48
    • 84889255618 scopus 로고    scopus 로고
    • Accuracy of ultrasonography at 11-14 weeks of gestation for detection of fetal structural anomalies: a systematic review
    • Rossi A.C., Prefumo F. Accuracy of ultrasonography at 11-14 weeks of gestation for detection of fetal structural anomalies: a systematic review. Obstet Gynecol 2013, 122(6):1160-1167.
    • (2013) Obstet Gynecol , vol.122 , Issue.6 , pp. 1160-1167
    • Rossi, A.C.1    Prefumo, F.2
  • 49
    • 84875442812 scopus 로고    scopus 로고
    • Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay
    • Spaggiari E., Ruas M., Dreux S., et al. Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay. Am J Obstet Gynecol 2013, 208(4):303.e1-303.e7.
    • (2013) Am J Obstet Gynecol , vol.208 , Issue.4 , pp. 3031-3037
    • Spaggiari, E.1    Ruas, M.2    Dreux, S.3
  • 50
    • 84903770080 scopus 로고    scopus 로고
    • Cost-effectiveness of prenatal screening strategies for congenital heart disease
    • Pinto N.M., Nelson R., Puchalski M., Metz T.D., Smith K.J. Cost-effectiveness of prenatal screening strategies for congenital heart disease. Ultrasound Obstet Gynecol 2014, 44(1):50-57.
    • (2014) Ultrasound Obstet Gynecol , vol.44 , Issue.1 , pp. 50-57
    • Pinto, N.M.1    Nelson, R.2    Puchalski, M.3    Metz, T.D.4    Smith, K.J.5
  • 51
    • 84959169194 scopus 로고    scopus 로고
    • Food and nutrition service national school lunch, special milk, and school breakfast programs, national average payments/maximum reimbursement rates
    • [No. 139. Wednesday, July 20]
    • Department of Agriculture Food and nutrition service national school lunch, special milk, and school breakfast programs, national average payments/maximum reimbursement rates. Federal Register 2011, 76. [No. 139. Wednesday, July 20].
    • (2011) Federal Register , vol.76
  • 52
    • 84894025754 scopus 로고    scopus 로고
    • Ethical dimensions of first-trimester fetal aneuploidy screening
    • Chervenak F.A., McCullough L.B. Ethical dimensions of first-trimester fetal aneuploidy screening. Clin Obstet Gynecol 2014, 57(1):226-231.
    • (2014) Clin Obstet Gynecol , vol.57 , Issue.1 , pp. 226-231
    • Chervenak, F.A.1    McCullough, L.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.