Prenatal detection of fetal chromosomal abnormalities in the 1st and 2nd trimester

被引：0
作者：
Krapp, M. [1 ]
Ludwig, A. [1 ]
机构：
[1] Amedes Hamburg, Zentrum Endokrinol Kinderwunsch & Pranatale Med, D-20095 Hamburg, Germany
来源：
MEDIZINISCHE GENETIK | 2011年 / 23卷 / 04期
关键词：
Chromosome aberrations; Aneuploidy; Prenatal ultrasonography; Second trimester; First trimester; CHOROID-PLEXUS CYSTS; DOWN-SYNDROME; NUCHAL TRANSLUCENCY; GENETIC SONOGRAM; RISK-ASSESSMENT; SOFT MARKERS; TRISOMY-21; 2ND-TRIMESTER; ULTRASOUND; FETUSES;
D O I：
10.1007/s11825-011-0305-9
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Modern noninvasive methods of prenatal medicine, in particular first-trimester-screening, enable early risk evaluation of the most common forms of aneuploidy. With over 4000 certified gynecologists in Germany, this method nowadays represents the standard in prenatal risk evaluation. The importance of classic genetic sonography during the second trimester by detection of soft markers for aneuploidy has declined. However, detailed sonography during the second trimester remains the gold standard for the detection of congenital anomalies. Therefore, the specialist in prenatal medicine must be able to recognize soft markers during this examination in order to re-evaluate the maternal risk for aneuploidy.
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页码：444 / +
页数：8
相关论文
共 29 条
  • [1] Frontomaxillary facial angle in screening for trisomy 21 at 11+0 to 13+6 weeks
    Borenstein, M.
    Persico, N.
    Kagan, K. O.
    Gazzoni, A.
    Nicolaides, K. H.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2008, 32 (01) : 5 - 11
  • [2] Second-trimester genetic sonogram for detection of fetal chromosomal abnormalities in a community-based antenatal testing unit
    Bottalico, J. N.
    Chen, X.
    Tartaglia, M.
    Rosario, B.
    Yarabothu, D.
    Nelson, L.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2009, 33 (02) : 161 - 168
  • [3] Choroid plexus cysts: Not associated with Down syndrome
    Bromley, B
    Lieberman, E
    Benacerraf, BR
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1996, 8 (04) : 232 - 235
  • [4] Fetal nose bone length - A marker for Down syndrome in the second trimester
    Bromley, B
    Lieberman, E
    Shipp, TD
    Benacerraf, BR
    [J]. JOURNAL OF ULTRASOUND IN MEDICINE, 2002, 21 (12) : 1387 - 1394
  • [5] The genetic sonogram - A method of risk assessment for Down syndrome in the second trimester
    Bromley, B
    Lieberman, E
    Shipp, TD
    Benacerraf, BR
    [J]. JOURNAL OF ULTRASOUND IN MEDICINE, 2002, 21 (10) : 1087 - 1096
  • [6] Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    Chiu, Rossa W. K.
    Chan, K. C. Allen
    Gao, Yuan
    Lau, Virginia Y. M.
    Zheng, Wenli
    Leung, Tak Y.
    Foo, Chris H. F.
    Xie, Bin
    Tsui, Nancy B. Y.
    Lun, Fiona M. F.
    Zee, Benny C. Y.
    Lau, Tze K.
    Cantor, Charles R.
    Lo, Y. M. Dennis
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2008, 105 (51) : 20458 - 20463
  • [7] Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study
    Cicero, S
    Curcio, P
    Papageorghiou, A
    Sonek, J
    Nicolaides, K
    [J]. LANCET, 2001, 358 (9294) : 1665 - 1667
  • [8] Karyotyping of fetuses with isolated choroid plexus cysts is not justified in an unselected population
    Coco, C
    Jeanty, P
    [J]. JOURNAL OF ULTRASOUND IN MEDICINE, 2004, 23 (07) : 899 - 906
  • [9] Choroid plexus cyst, intracardiac echogenic focus, hyperechogenic bowel and hydronephrosis in screening for trisomy 21 at 11+0 to 13+6 weeks
    Dagklis, T.
    Plasencia, W.
    Maiz, N.
    Duarte, L.
    Nicolaides, K. H.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2008, 31 (02) : 132 - 135
  • [10] Eiben B, 2011, FRAUENARZT, V52, P490
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