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1
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0032146382
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UK multicenter project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10-14 weeks of gestation
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Snijders, R.J.M.1
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First trimester screening for trisomy 21 and 18
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NICHD BUN Study Group
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Wapner R, Thom E, Simpson JL. NICHD BUN Study Group. First trimester screening for trisomy 21 and 18. N Engl J Med 2003; 349:1405-1413. This was the first USA multicenter trial evaluating the sensitivity of first trimester screening for Down syndrome.
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Wapner, R.1
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German speaking Down syndrome screening group. Screening for trisomy 21 by maternal age, fetal nuchal translucency and maternal serum biochemistry 11-14 weeks. A German multicenter study
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VonKaisenberg CS, Gasionek-Wiens A, Brelicki M, et al. German speaking Down syndrome screening group. Screening for trisomy 21 by maternal age, fetal nuchal translucency and maternal serum biochemistry 11-14 weeks. A German multicenter study. J Matern Fetal Neonatal Med 2002; 12:89-94.
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J Matern Fetal Neonatal Med
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VonKaisenberg, C.S.1
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First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers
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Mueller F, Benattar C, Audibert F, et al. First-trimester screening for Down syndrome in France combining fetal nuchal translucency measurement and biochemical markers. Prenat Diagn 2003; 23:833-836.
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Mueller, F.1
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Audibert, F.3
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5
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0035682351
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First-trimester screening for chromosal abnormalities by fetal nuchal translucency in a Brazilian population
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Brizol ML, Carvalho MH, Liao AW, et al. First-trimester screening for chromosal abnormalities by fetal nuchal translucency in a Brazilian population. Ultrasound Obstet Gynecol 2001; 18:652-655.
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Brizol, M.L.1
Carvalho, M.H.2
Liao, A.W.3
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7
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One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: A prospective study of 15030 pregnancy
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Bindra R, Heath V, Liao A, et al. One-stop clinic for assessment of risk for trisomy 21 at 11-14 weeks: a prospective study of 15030 pregnancy. Ultrasound Obstet Gynecol 2002; 20:219-225.
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Bindra, R.1
Heath, V.2
Liao, A.3
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8
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0037333249
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Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience
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Spencer K, Spencer CE, Power M, et al. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience. Br J Obstet Gynaecol 2003; 110:281-286.
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Br J Obstet Gynaecol
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Spencer, K.1
Spencer, C.E.2
Power, M.3
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9
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0037333795
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Screening for Trisomy 21 twins using first trimester ultrasound and maternal serum biochemistry in one-stop clinic: A review of three years experience
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Spencer K, Nicolaides KH. Screening for Trisomy 21 twins using first trimester ultrasound and maternal serum biochemistry in one-stop clinic: A review of three years experience. Br J Obstet Gynecol 2003; 110:276-280. Office-based first trimester screening is shown to have a high aneuploidy detection rate.
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Br J Obstet Gynecol
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Spencer, K.1
Nicolaides, K.H.2
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10
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0042266216
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Combining nuchal translucency and serum markers in prenatal screening for Down syndrome in twin pregnancies
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Wald NJ, Rish S, Hackshaw. Combining nuchal translucency and serum markers in prenatal screening for Down syndrome in twin pregnancies. Prenat Diagn 2003; 23:588-592.
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Wald, N.J.1
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Hackshaw3
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11
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0037566040
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Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses
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Zoppi MA, Ibba RM, Floris M, et al. Changes in nuchal translucency thickness in normal and abnormal karyotype fetuses. Br J Obstet Gynecol 2003; 110:584-588. The first trimester nuchal translucency measurement was noted to decrease in a significant percentage of Down syndrome fetuses in repeat examinations.
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Br J Obstet Gynecol
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Zoppi, M.A.1
Ibba, R.M.2
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13
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0041521021
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Shulman A, Maymen R. Mid-gestation Down syndrome screening test and pregnancy outcome among unstimulated assisted-conception pregnancies. Prenat Diagn 2003; 23:625-628.
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Shulman, A.1
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14
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First trimester screening for trisomy 21 in singleton pregnancies achieved by assisted reproduction
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Liao AW, Health V, Kametas N, et al. First trimester screening for trisomy 21 in singleton pregnancies achieved by assisted reproduction. Hum Reprod 2001; 16:1501-1504.
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Hum Reprod
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Liao, A.W.1
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Kametas, N.3
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First trimester screening for Down syndrome and assisted reproduction: No basis for concern
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Wojdemann KR, Larsen SO, Shalmi A, et al. First trimester screening for Down syndrome and assisted reproduction: no basis for concern. Prenat Diagn 2001; 21:563-565.
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Wojdemann, K.R.1
Larsen, S.O.2
Shalmi, A.3
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16
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Lai TH, Chen SC, Tsai MS, et al. First-trimester screening for Down syndrome in singleton pregnancies achieved by intrauterine insemination. J Assist Reprod Genet 2003; 20:327-331.
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J Assist Reprod Genet
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Lai, T.H.1
Chen, S.C.2
Tsai, M.S.3
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17
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Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks by post mortem x-ray in trisomy 21: A prospective obstetrical study
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Larose C, Massoc P, Hillion Y, et al. Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks by post mortem x-ray in trisomy 21: a prospective obstetrical study. Ultrasound Obstet Gynecol 2003; 22:27-30.
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Ultrasound Obstet Gynecol
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Larose, C.1
Massoc, P.2
Hillion, Y.3
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18
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0038336662
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The nasal bone in fetuses with trisomy 21: A sonographic versus pathomorphological findings
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Minderer S, Gloning KP, Henrich W, Stoger H. The nasal bone in fetuses with trisomy 21: a sonographic versus pathomorphological findings. Ultrasound Obstet Gynecol 2003; 22:16-21.
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Ultrasound Obstet Gynecol
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Minderer, S.1
Gloning, K.P.2
Henrich, W.3
Stoger, H.4
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19
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Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks gestation: An observational study
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Cicero S, Ciarcio P, Papageorghiore A, et al. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks gestation: an observational study. Lancet 2001; 358:1165-1167.
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Cicero, S.1
Ciarcio, P.2
Papageorghiore, A.3
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20
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0037490089
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Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies
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Zoppi MA, Ibba RM, Axiana C, et al. Absence of fetal nasal bone and aneuploidies at first-trimester nuchal translucency screening in unselected pregnancies. Prenat Diagn 2003; 23:496-500.
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Prenat Diagn
, vol.23
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Zoppi, M.A.1
Ibba, R.M.2
Axiana, C.3
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21
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0038160096
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Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks
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Cicero S, Dezerega V, Andrade E, et al. Learning curve for sonographic examination of the fetal nasal bone at 11-14 weeks. Ultrasound Obstet Gynecol 2003; 22:135-137.
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Ultrasound Obstet Gynecol
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Cicero, S.1
Dezerega, V.2
Andrade, E.3
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22
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0037393802
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Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP A at 11-14 weeks
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Cicero S, Bindra R, Rembouskas G, et al. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP A at 11-14 weeks. Prenat Diagn 2003; 23:306-310. The authors combined nasal bone measurements with other first trimester markers to further improve aneuploidy detection.
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Prenat Diagn
, vol.23
, pp. 306-310
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Cicero, S.1
Bindra, R.2
Rembouskas, G.3
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Nuchal translucency and first trimester biochemical markers for down syndrome screening: A cost-effectiveness analysis
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Caughey AB, Kuppermann M, Norton ME, Washington AE. Nuchal translucency and first trimester biochemical markers for down syndrome screening: a cost-effectiveness analysis. Am J Obstet Gynecol 2002; 187:1239-1245. This is a systematic analysis of the economic costs and medical risks versus benefits in first trimester screening.
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Am J Obstet Gynecol
, vol.187
, pp. 1239-1245
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Caughey, A.B.1
Kuppermann, M.2
Norton, M.E.3
Washington, A.E.4
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0037341233
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Combined first-trimester versus second-trimester serum screening for Down syndrome: A cost analysis
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Cusick W, Buchanan P, Hallahan TW, et al. Combined first-trimester versus second-trimester serum screening for Down syndrome: a cost analysis. Am J Obstet Gynecol 2003; 188:745-751.
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Am J Obstet Gynecol
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, pp. 745-751
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Cusick, W.1
Buchanan, P.2
Hallahan, T.W.3
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25
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Ethical dimensions of nuchal translucency screening
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Chasen ST, Skupski DW. Ethical dimensions of nuchal translucency screening. Clin Perinatal 2003; 30:95-102.
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Clin Perinatal
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Chasen, S.T.1
Skupski, D.W.2
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Early genetic sonogram for Down syndrome detection
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Bahado-Singh RO, Mendilicioglu I, Rowther M, et al. Early genetic sonogram for Down syndrome detection. Am J Obstet Gynecol 2002; 187:1235-1238. An 81.8% detection rate and a 4.8% false positive rate for Down syndrome were noted at 14-16 weeks.
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Am J Obstet Gynecol
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Bahado-Singh, R.O.1
Mendilicioglu, I.2
Rowther, M.3
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Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 1999; 318:81-5.
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Favre R, Cherify Y, Kohler M, et al. The role of nuchal translucency and ductus venous Doppler at 11-14 weeks gestation in the detection of major congenital heart defects. Ultrasound Obstet Gynecol 2003; 21:239-243.
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Kohler, M.3
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Orvos H, Wayda K, Kozinsky Z, et al. Increased nuchal translucency and congenital heart defects in euploid fetuses. Eur J Obstet Gynecol 2002; 101:124-128.
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Eur J Obstet Gynecol
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Orvos, H.1
Wayda, K.2
Kozinsky, Z.3
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Elevated first trimester nuchal translucency measurement is associated with an increased risk of congenital heart defect
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NICHD BUN Study Group
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Bahado-Singh RO, Zachary J, Wapner RJ. NICHD BUN Study Group. Elevated first trimester nuchal translucency measurement is associated with an increased risk of congenital heart defect [abstract]. Am J Obstet Gynecol 2003; 189:
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Am J Obstet Gynecol
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Bahado-Singh, R.O.1
Zachary, J.2
Wapner, R.J.3
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Screening performance of first-trimester nuchal translucency for major cardiac defects: A meta-analysis
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Makrydimas G, Sotiriadis A, Ioannidia JPA. Screening performance of first-trimester nuchal translucency for major cardiac defects: a meta-analysis. Am J Obstet Gynecol 2003; 189:1330-1335.
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Am J Obstet Gynecol
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Ioannidia, J.P.A.3
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Haak MC, Twisk JWR, Bartelings MM, et al. Ductus venous flow velocities in relation to the cardiac defects in first-trimester fetuses with enlarged nuchal translucency. Am J Obstet Gynecol 2003; 188:727-737. First trimester cardiac Doppler changes are reported in fetuses with increased nuchal fluid.
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Am J Obstet Gynecol
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Haak, M.C.1
Twisk, J.W.R.2
Bartelings, M.M.3
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Diagnosis of fetal acrania during the first trimester nuchal translucency screening for Down syndrome
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Cheng CC, Lee FK, Lin HW, et al. Diagnosis of fetal acrania during the first trimester nuchal translucency screening for Down syndrome. Int J Gynaecol Obstet 2003; 80:139-144. This describes first trimester detection of neural tube defects.
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Int J Gynaecol Obstet
, vol.80
, pp. 139-144
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Cheng, C.C.1
Lee, F.K.2
Lin, H.W.3
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0037295166
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Prenatal diagnosis of holoprosencephaly and ectopia cordis in a twin at 12 weeks gestation
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Taipale PJ, Krista T, Alafuzoff I. Prenatal diagnosis of holoprosencephaly and ectopia cordis in a twin at 12 weeks gestation. Ultrasound Obstet Gynecol 2003; 21:198-200.
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Ultrasound Obstet Gynecol
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, pp. 198-200
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Taipale, P.J.1
Krista, T.2
Alafuzoff, I.3
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0037636468
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First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome
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Teoh M, Meagher S. First-trimester diagnosis of micrognathia as a presentation of Pierre Robin syndrome. Ultrasound Obstet Gynecol 2003; 21:616-618.
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Ultrasound Obstet Gynecol
, vol.21
, pp. 616-618
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Teoh, M.1
Meagher, S.2
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0037329727
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Case report: A prenatal case Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy
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Kauffmann E, Roman H, Barau G, et al. Case report: A prenatal case Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy. Prenat Diagn 2003; 23:163-165.
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Prenat Diagn
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Kauffmann, E.1
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Sirenomelia, the mermaid syndrome: Detection in the first trimester
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Schiesser M, Holzgreve W, Lapaire O, et al. Sirenomelia, the mermaid syndrome: detection in the first trimester. Prenat Diagn 2003; 23:493-495.
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Prenat Diagn
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Schiesser, M.1
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Lapaire, O.3
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0037244868
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Congenital erythropoietic porphyria (Gunther's disease): Two cases with very early prenatal manifestation and cystic hygroma
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Pannier E, Viot G, Aubry MC, et al. Congenital erythropoietic porphyria (Gunther's disease): Two cases with very early prenatal manifestation and cystic hygroma. Prenat Diagn 2003; 23:25-30.
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Prenat Diagn
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Pannier, E.1
Viot, G.2
Aubry, M.C.3
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First-trimester features of Fowler syndrome (Hydrocephaly- hydranencephaly proliferative vasculopathy)
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LaurichesseDelmas H, Beaufrere AM, et al. First-trimester features of Fowler syndrome (Hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol 2002; 20:612-615.
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Ultrasound Obstet Gynecol
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, pp. 612-615
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LaurichesseDelmas, H.1
Beaufrere, A.M.2
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First-trimester features of Fowler syndrome (Hydrocephaly- hydranencephaly proliferative vasculopathy)
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Witters I, Fryns JP. First-trimester features of Fowler syndrome (Hydrocephaly-hydranencephaly proliferative vasculopathy). Ultrasound Obstet Gynecol 2003; 21:411-412.
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Ultrasound Obstet Gynecol
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, pp. 411-412
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Witters, I.1
Fryns, J.P.2
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41
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0037324897
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First-trimester diagnosis of Bartxocas-Papas syndrome (BPS) by transvaginal ultrasound: Case report and review of the literature
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Dolan SM, Shanske AL, Marion RW, Gross SJ. First-trimester diagnosis of Bartxocas-Papas syndrome (BPS) by transvaginal ultrasound: Case report and review of the literature. Prenat Diagn 2003; 23:138-142.
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Prenat Diagn
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Dolan, S.M.1
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Marion, R.W.3
Gross, S.J.4
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