메뉴 건너뛰기




Volumn 42, Issue 2, 2015, Pages 193-208

Genetics: Update on Prenatal Screening and Diagnosis

Author keywords

Amniocentesis; Chorionic villus sampling; Chromosomal; Fetal reduction; Genetic disorder; Mendelian; Multiple pregnancies; Pre implantation diagnosis

Indexed keywords

AMNIOCENTESIS; AMNION BAND SYNDROME; AMNIOTIC FLUID CELL; CELL FREE SYSTEM; CHORION VILLUS SAMPLING; CHROMOSOME DISORDER; CYTOGENETICS; DIAGNOSTIC ACCURACY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC DISORDER; GESTATIONAL AGE; HUMAN; MATERNAL BLOOD; MENDELIAN DISORDER; MICROARRAY ANALYSIS; MOSAICISM; NERVOUS SYSTEM INJURY; PATIENT SAFETY; PRENATAL DIAGNOSIS; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; RISK FACTOR; SEPSIS; SEQUENCE ANALYSIS; TREATMENT INDICATION; ADULT; CONGENITAL ABNORMALITIES; FEMALE; GENETIC DISEASES, INBORN; GENETIC MARKER; MATERNAL AGE; MULTIPLE PREGNANCY; NEWBORN; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY; PROCEDURES; PSYCHOLOGY; TRENDS;

EID: 84931425768     PISSN: 08898545     EISSN: 15580474     Source Type: Journal    
DOI: 10.1016/j.ogc.2015.01.011     Document Type: Review
Times cited : (23)

References (47)
  • 2
    • 84931366101 scopus 로고    scopus 로고
    • Ashkenazi Jewish carrier screening: integrated genetics. Available at:. Accessed February
    • Ashkenazi Jewish carrier screening: integrated genetics. Available at:. Accessed February, 2015. https://www.labcorp.com/wps/portal/!ut/p/c1/04_SB8K8xLLM9MSSzPy8xBz9CP0os3h_U2cv30B_IwN_f3MDA88APyM_byN_Q3cfA30_j_zcVP2CbEdFAPxk0ls!/dl2/d1/L0lDU0lKSWdrbUEhIS9JRFJBQUlpQ2dBek15cXchL1lCSkoxTkExTkk1MC01RncvN19PNUNKTVFPMjBPTzcwMElQTjJOSzJPMUdENS9JX19fXzE!/?WCM_PORTLET=PC_7_O5CJMQO20OO700IPN2NK2O1GD5_WCM%26WCM_GLOBAL_CONTEXT=/wps/wcm/connect/IntGeneticsLib/integratedgenetics/home/our+services/reproductive+testing/aj-carrier-test.
    • (2015)
  • 3
    • 79960555638 scopus 로고    scopus 로고
    • Performance adjusted risks (PAR): a method to improve the quality of algorithm performance while allowing all to play
    • Evans M.I., Cuckle H.S. Performance adjusted risks (PAR): a method to improve the quality of algorithm performance while allowing all to play. Prenat Diagn 2011, 31:797-801.
    • (2011) Prenat Diagn , vol.31 , pp. 797-801
    • Evans, M.I.1    Cuckle, H.S.2
  • 4
    • 78049300625 scopus 로고    scopus 로고
    • Auniversal carrier test for the long tail of Mendelian disease
    • Srinivasan B.S., Evans E.A., Flannick J., et al. Auniversal carrier test for the long tail of Mendelian disease. Reprod Biomed Online 2010, 4:537-551.
    • (2010) Reprod Biomed Online , vol.4 , pp. 537-551
    • Srinivasan, B.S.1    Evans, E.A.2    Flannick, J.3
  • 5
    • 84931419976 scopus 로고    scopus 로고
    • Regulation of genetic tests. Available at:. Accessed February, 2015.
    • National Human Genome Research Institute. Regulation of genetic tests. Available at:. Accessed February, 2015. http://www.genome.gov/10002335.
  • 7
    • 33847344594 scopus 로고    scopus 로고
    • Meta-analysis of first trimester Down syndrome screening studies: free beta-human chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol
    • Evans M.I., Hallahan T.W., Krantz D., et al. Meta-analysis of first trimester Down syndrome screening studies: free beta-human chorionic gonadotropin significantly outperforms intact human chorionic gonadotropin in a multimarker protocol. Am J Obstet Gynecol 2007, 196:198-205.
    • (2007) Am J Obstet Gynecol , vol.196 , pp. 198-205
    • Evans, M.I.1    Hallahan, T.W.2    Krantz, D.3
  • 8
    • 79955959403 scopus 로고    scopus 로고
    • Vaginal progesterone reduces the rate of preterm birth in women with a sonographic short cervix: a multicenter, randomized, double-blind, placebo-controlled trial
    • Hassan S., Romero R., Vidyadhari D., et al. Vaginal progesterone reduces the rate of preterm birth in women with a sonographic short cervix: a multicenter, randomized, double-blind, placebo-controlled trial. Ultrasound Obstet Gynecol 2011, 38:18-31.
    • (2011) Ultrasound Obstet Gynecol , vol.38 , pp. 18-31
    • Hassan, S.1    Romero, R.2    Vidyadhari, D.3
  • 9
    • 0027934582 scopus 로고
    • Identification of second trimester fetuses with autosomal trisomy by use of a sonographic scoring index
    • Benacerraf B.R., Nadel A., Bromley B. Identification of second trimester fetuses with autosomal trisomy by use of a sonographic scoring index. Radiology 1994, 193:135-140.
    • (1994) Radiology , vol.193 , pp. 135-140
    • Benacerraf, B.R.1    Nadel, A.2    Bromley, B.3
  • 10
    • 51949084368 scopus 로고    scopus 로고
    • Second trimester sonographic soft markers: what can we learn from the experience of first trimester nuchal translucency screening?
    • Lau T.K., Evans M.I. Second trimester sonographic soft markers: what can we learn from the experience of first trimester nuchal translucency screening?. Ultrasound Obstet Gynecol 2008, 32:123-125.
    • (2008) Ultrasound Obstet Gynecol , vol.32 , pp. 123-125
    • Lau, T.K.1    Evans, M.I.2
  • 11
    • 84896113111 scopus 로고    scopus 로고
    • First trimester screening for Trisomies 21, 18, and13 by ultrasound and biochemical testing
    • Wright D., Syngelaki A., Bradbury D., et al. First trimester screening for Trisomies 21, 18, and13 by ultrasound and biochemical testing. Fetal Diagn Ther 2014, 35:118-126.
    • (2014) Fetal Diagn Ther , vol.35 , pp. 118-126
    • Wright, D.1    Syngelaki, A.2    Bradbury, D.3
  • 12
    • 0014207401 scopus 로고
    • Intrauterine diagnosis and management of genetic defects
    • Jacobson J.B., Barter R.H. Intrauterine diagnosis and management of genetic defects. Am J Obstet Gynecol 1967, 99:795-801.
    • (1967) Am J Obstet Gynecol , vol.99 , pp. 795-801
    • Jacobson, J.B.1    Barter, R.H.2
  • 13
  • 14
    • 84870549609 scopus 로고    scopus 로고
    • Chromosomal microarray versus karyotyping for prenatal diagnosis
    • Wapner R.J., Martin C.L., Levy B., et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. NEngl J Med 2012, 367:2175-2184.
    • (2012) NEngl J Med , vol.367 , pp. 2175-2184
    • Wapner, R.J.1    Martin, C.L.2    Levy, B.3
  • 15
    • 0036635237 scopus 로고    scopus 로고
    • Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
    • Bianchi D.W., Simpson J.L., Jackson L.G., et al. Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data. Prenat Diagn 2002, 22:609-615.
    • (2002) Prenat Diagn , vol.22 , pp. 609-615
    • Bianchi, D.W.1    Simpson, J.L.2    Jackson, L.G.3
  • 16
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo Y.M., Corbetta N., Chamberlain P.F., et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350:485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 17
    • 57449085114 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art
    • Lo Y.M. Noninvasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 2009, 116:152-157.
    • (2009) BJOG , vol.116 , pp. 152-157
    • Lo, Y.M.1
  • 18
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
    • Ehrich M., Deciu C., Zwiefelhofer T., et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011, 204:205.e1-205.e11.
    • (2011) Am J Obstet Gynecol , vol.204 , pp. 205.e1-205.e11
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 19
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell free DNA in maternal blood for evaluation of fetal trisomy
    • Sparks A.B., Wang E.T., Struble C.A., et al. Selective analysis of cell free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012, 32:3-9.
    • (2012) Prenat Diagn , vol.32 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3
  • 20
    • 84891814405 scopus 로고    scopus 로고
    • Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?
    • Bianchi D.W., Wilkins-Haug L. Integration of noninvasive DNA testing for aneuploidy into prenatal care: what has happened since the rubber met the road?. Clin Chem 2014, 60:78-87.
    • (2014) Clin Chem , vol.60 , pp. 78-87
    • Bianchi, D.W.1    Wilkins-Haug, L.2
  • 21
    • 84878144362 scopus 로고    scopus 로고
    • Noninvasive prenatal testing: the paradigm is shifting rapidly
    • Chitty L.S., Bianchi D.W. Noninvasive prenatal testing: the paradigm is shifting rapidly. Prenat Diagn 2013, 33:511-513.
    • (2013) Prenat Diagn , vol.33 , pp. 511-513
    • Chitty, L.S.1    Bianchi, D.W.2
  • 23
    • 84931324474 scopus 로고    scopus 로고
    • Utilization of a 1/1000 cutoff in combined screening for Down Syndrome in younger women AMA patients provides cost advantages compared with NIPS
    • Krantz D.A., Hallahan T.W., Carmichael J.B., et al. Utilization of a 1/1000 cutoff in combined screening for Down Syndrome in younger women AMA patients provides cost advantages compared with NIPS. Am J Obstet Gynecol 2014, 210:S111.
    • (2014) Am J Obstet Gynecol , vol.210 , pp. S111
    • Krantz, D.A.1    Hallahan, T.W.2    Carmichael, J.B.3
  • 24
    • 84880042743 scopus 로고    scopus 로고
    • Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis
    • Cuckle H.S., Benn P., Pergament E. Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis. Prenat Diagn 2013, 33:636-642.
    • (2013) Prenat Diagn , vol.33 , pp. 636-642
    • Cuckle, H.S.1    Benn, P.2    Pergament, E.3
  • 25
    • 84920868260 scopus 로고    scopus 로고
    • Cell-free fetal DNA screening in the USAnited States: a cost analysis of screening strategies
    • Evans M.I., Sonek J., Hallahan T., et al. Cell-free fetal DNA screening in the USAnited States: a cost analysis of screening strategies. Ultrasound Obstet Gynecol 2015, 45:74-83.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 74-83
    • Evans, M.I.1    Sonek, J.2    Hallahan, T.3
  • 26
    • 0020670473 scopus 로고
    • Maternal bonding in early fetal ultrasound examinations
    • Fletcher J.C., Evans M.I. Maternal bonding in early fetal ultrasound examinations. NEngl J Med 1983, 308:392-393.
    • (1983) NEngl J Med , vol.308 , pp. 392-393
    • Fletcher, J.C.1    Evans, M.I.2
  • 27
    • 0025335876 scopus 로고
    • Ultrasonography-guided early amniocentesis in singleton pregnancies
    • Hanson F.W., Happ R.L., Tennant F.R., et al. Ultrasonography-guided early amniocentesis in singleton pregnancies. Am J Obstet Gynecol 1990, 162:1376-1381.
    • (1990) Am J Obstet Gynecol , vol.162 , pp. 1376-1381
    • Hanson, F.W.1    Happ, R.L.2    Tennant, F.R.3
  • 28
    • 0029562541 scopus 로고
    • Early amniocentesis: a clinical review
    • Wilson R.D. Early amniocentesis: a clinical review. Prenat Diagn 1995, 15:1259-1273.
    • (1995) Prenat Diagn , vol.15 , pp. 1259-1273
    • Wilson, R.D.1
  • 29
    • 0026582269 scopus 로고
    • Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins
    • Van der Pol J.S., Wolf H., Boer K., et al. Jejunal atresia related to the use of methylene blue in genetic amniocentesis in twins. Br J Obstet Gynaecol 1992, 99:141-143.
    • (1992) Br J Obstet Gynaecol , vol.99 , pp. 141-143
    • Van der Pol, J.S.1    Wolf, H.2    Boer, K.3
  • 30
    • 0024787082 scopus 로고
    • Clinical implications of amniotic fluid AFP in twin pregnancies
    • Drugan A., Sokol R.J., Syner F.N., et al. Clinical implications of amniotic fluid AFP in twin pregnancies. JReprod Med 1989, 34:977-981.
    • (1989) JReprod Med , vol.34 , pp. 977-981
    • Drugan, A.1    Sokol, R.J.2    Syner, F.N.3
  • 31
    • 34548405957 scopus 로고    scopus 로고
    • Procedure-related complications of amniocentesis and chorionic villus sampling: a systematic review
    • Mujezinovic F., Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villus sampling: a systematic review. Obstet Gynecol 2007, 110:687-694.
    • (2007) Obstet Gynecol , vol.110 , pp. 687-694
    • Mujezinovic, F.1    Alfirevic, Z.2
  • 32
    • 0022650629 scopus 로고
    • Randomized controlled trial of genetic amniocentesis in 4606 low-risk women
    • Tabor A., Phillip J., Masden M., et al. Randomized controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986, 1:1287-1293.
    • (1986) Lancet , vol.1 , pp. 1287-1293
    • Tabor, A.1    Phillip, J.2    Masden, M.3
  • 33
    • 33750498071 scopus 로고    scopus 로고
    • Pregnancy loss rates after midtrimester amniocentesis
    • Eddleman K.A., Malone F.D., Sullivan L., et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 2006, 108:1067-1072.
    • (2006) Obstet Gynecol , vol.108 , pp. 1067-1072
    • Eddleman, K.A.1    Malone, F.D.2    Sullivan, L.3
  • 34
    • 0033868280 scopus 로고    scopus 로고
    • Five cases of brain injury following amniocentesis in mid-term pregnancy
    • Squier M., Chamberlain P., Zaiwalla Z., et al. Five cases of brain injury following amniocentesis in mid-term pregnancy. Dev Med Child Neurol 2000, 42(8):554-560.
    • (2000) Dev Med Child Neurol , vol.42 , Issue.8 , pp. 554-560
    • Squier, M.1    Chamberlain, P.2    Zaiwalla, Z.3
  • 35
    • 84884980160 scopus 로고    scopus 로고
    • Detection of genetic abnormalities using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses
    • Rosner M., Pergament E., Andriole S., et al. Detection of genetic abnormalities using CVS and FISH prior to fetal reduction in sonographically normal appearing fetuses. Prenat Diagn 2013, 33:940-944.
    • (2013) Prenat Diagn , vol.33 , pp. 940-944
    • Rosner, M.1    Pergament, E.2    Andriole, S.3
  • 37
    • 0028035205 scopus 로고
    • Incidence of bacteremia associated with chorionic villus sampling
    • Silverman N.S., Sullivan M.W., Jungkind D.L., et al. Incidence of bacteremia associated with chorionic villus sampling. Obstet Gynecol 1994, 84(6):1021-1024.
    • (1994) Obstet Gynecol , vol.84 , Issue.6 , pp. 1021-1024
    • Silverman, N.S.1    Sullivan, M.W.2    Jungkind, D.L.3
  • 38
    • 84920848763 scopus 로고    scopus 로고
    • Procedure related risk of misscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis
    • Akolekar R., Beta J., Picciarelli G., et al. Procedure related risk of misscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015, 45:16-26.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 16-26
    • Akolekar, R.1    Beta, J.2    Picciarelli, G.3
  • 39
    • 84931477779 scopus 로고    scopus 로고
    • Risk of fetal loss from invasive testing. Presented at the meeting of Fetal Medicine Foundation.
    • Wulff R, Tabor A. Risk of fetal loss from invasive testing. Presented at the meeting of Fetal Medicine Foundation. 2013.
    • (2013)
    • Wulff, R.1    Tabor, A.2
  • 40
    • 0024522992 scopus 로고
    • The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities
    • Rhoads G.G., Jackson L.G., Schlesselman S.E., et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. NEngl J Med 1989, 320:609.
    • (1989) NEngl J Med , vol.320 , pp. 609
    • Rhoads, G.G.1    Jackson, L.G.2    Schlesselman, S.E.3
  • 41
    • 0026682553 scopus 로고
    • Cytogenetic results from the US collaborative study on CVS
    • Ledbetter D.H., Zachary J.L., Simpson M.S., et al. Cytogenetic results from the US collaborative study on CVS. Prenat Diagn 1992, 12(5):317.
    • (1992) Prenat Diagn , vol.12 , Issue.5 , pp. 317
    • Ledbetter, D.H.1    Zachary, J.L.2    Simpson, M.S.3
  • 43
    • 0026621269 scopus 로고
    • Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi: an adjunct to long-term culture and karyotype
    • Evans M.I., Klinger K.W., Isada N.B., et al. Rapid prenatal diagnosis by fluorescent in situ hybridization of chorionic villi: an adjunct to long-term culture and karyotype. Am J Obstet Gynecol 1992, 167:1522.
    • (1992) Am J Obstet Gynecol , vol.167 , pp. 1522
    • Evans, M.I.1    Klinger, K.W.2    Isada, N.B.3
  • 44
    • 0030022057 scopus 로고    scopus 로고
    • Polar body diagnosis of common aneuploidies by FISH
    • 100
    • Verlinsky Y., Cieslak J., Freidine M., et al. Polar body diagnosis of common aneuploidies by FISH. JAssist Reprod Genet 1996, 13:157-162. 100.
    • (1996) JAssist Reprod Genet , vol.13 , pp. 157-162
    • Verlinsky, Y.1    Cieslak, J.2    Freidine, M.3
  • 45
    • 78649635514 scopus 로고    scopus 로고
    • Hudgins L Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    • Manning M. Hudgins L Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010, 12(11):742-745.
    • (2010) Genet Med , vol.12 , Issue.11 , pp. 742-745
    • Manning, M.1
  • 46
    • 84866999347 scopus 로고    scopus 로고
    • Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies
    • Shaffer L.G., Dabell M.P., Fisher A.J., et al. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn 2012, 32(10):976-985.
    • (2012) Prenat Diagn , vol.32 , Issue.10 , pp. 976-985
    • Shaffer, L.G.1    Dabell, M.P.2    Fisher, A.J.3
  • 47
    • 5044247324 scopus 로고    scopus 로고
    • Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease
    • Handyside A.H., Robinson M.D., Simpson R.J., et al. Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod 2004, 10(10):767-772.
    • (2004) Mol Hum Reprod , vol.10 , Issue.10 , pp. 767-772
    • Handyside, A.H.1    Robinson, M.D.2    Simpson, R.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.