Literatur
-
1
Braulke I, Rauskolb R.
Blutuntersuchungen
bei Schwangeren zur pränatalen Risikopräzisierung für
Chromosomenanomalien und Neuralrohrdefekte.
Med
Genetik.
1996;
4
348-352
-
2
Chitayat D, Kalousek D K, Bamforth J S.
Lymphatic
abnormalities in fetuses with posterior cervical cystic hygroma.
Am J
Med
Gen.
1989;
33
52-56
-
3
Eiben B, Sancken U.
Computer
software programs and Down`s syndrome risk
calculations.
Lancet.
1996;
347
1553-1554
-
4
Eiben B, Hammans W, Hansen S. et
al .
On the complication risk of early amniocentesis versus
standard amniocentesis.
Fet Diagn
Ther.
1997;
12
140-144
-
5
Eiben B, Hammans W, Goebel R, Epplen J T.
Die
Fluoreszenz in situ Hybridisierung (FISH) an unkultivierten Amnionzellen: Ein
neuer Schnelltest für einige definierte
Chromosomenstörungen?.
Dt
Ärztebl.
1998;
95A
1304-1306
-
6
Eiben B, Trawicki W, Hammans W, Goebel R, Pruggmayer M, Epplen J T.
Rapid
prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in
situ hybridisation (FISH) - An evaluation of over 3000
cases.
Fet Diagn
Ther.
1999;
14
193-197
-
7
Germer U, Gembruch U, Geipel A, Krapp M, Diedrich K.
Frühes
Fehlbildungsscreening als Entscheidungsgrundlage für oder gegen eine
Karyotypisierung in der
Schwangerschaft.
Frauenarzt.
1998;
39
242-255
-
8
Haddow J E, Palomaki G E, Knight G J, Williams J, Miller W A, Johnson A.
Screening
of maternal serum for fetal Down`s syndrome in the first
trimester.
N Engl J
Med.
1998;
338
955-961
-
9
Huisman T W, Bilardo C M.
Transient
increase in nuchal translucency thickness and reversed end-diastolic ductus
venosus flow in a fetus with trisomy 18.
Ultrasound Obstet
Gynecol.
1997;
10
397-399
-
10
Hyett J A, Brizot M L, von
Kaisenberg C S, McKie A T, Farzaneh F, Nicolaides K H.
Cardiac
gene expression of atrial natriuretic peptide and brain natriuretic peptide in
trisomic
fetuses.
Obstet.
Gynecol.1996;
87
506-510
-
11
Hyett J A, Moscoso G, Nicolaides K H.
Abnormalites
of the heart and great arteries in first trimester chromosomally abnormal
fetuses.
Am J Med
Genet..
1997;
69
207-216
-
12
Hyett J A, Perdu M, Sharland G K, Snijders R J, Nicolaides K H.
Increased
nuchal translucency at 10-14 weeks of gestation as a marker for major
cardiac defects.
Ultrasound Obstet
Gynecol.
1997;
10
242-246
-
13 Kurnit D M, Layton W M, Matthyse S. Genetics,
chance and morphogenesis. in: Epstein CJ, ed. Morphogenesis of Down
syndrome Wiley Liss, New
York 1987: 19-41
-
14
Matias A, Gomes C, Flack N, Montenegro N, Nicolaides K .
Screening
for chromosomal abnormalities at 11-14 weeks: the role of ductus venosus
blood flow.
Ultrasound Obstet
Gynecol.
1998;
12
380-384
-
15
Miny P, Holzgreve W.
Indikationen,
Möglichkeiten und Grenzen der Zytogenetik in der pränatalen
Diagnostik.
Med
Genet.
1999;
11
359-364
-
16
Montenegro N, Matias A, Areias J C, Castedo S, Barros H.
Increased
fetal nuchal translucency: possible involvement of early cardiac
failure.
Ultrasound Obstet
Gynecol.
1997;
10
265-268
-
17
Morris J K, Wald N J, Watt H C.
Fetal
loss in Down syndrome pregnancies.
Prenat
Diagn.
1999;
19
142-145
-
18 Nicolaides K, Sebire N, Snijders J M. The
11-14 week scan - The diagnosis of fetal
anomalies. Parthenon Publishing, New York,
London 1999
-
19
Pauer H U, Rauskolb R.
Blutuntersuchungen
bei Schwangeren zur pränatalen Erkennung von Chromosomenanomalien und
Neuralrohrdefekten.
Frauenarzt.
1999;
40
518-522
-
20
Sancken U, Bahner D.
The
effect of thermal instability of intact human chorionic gonadotropin on the
application of it`s free ß subunit as a serum marker in Down
syndrome sreening.
Prenat
Diag.
1995;
15
731-738
-
21
Schmidtke J.
Die
Indikationen zur Pränataldiagnostik müssen neu begründet
werden.
Med
Genet.
1995;
7
49-52
-
22
Schuchter K, Wald N, Hackshaw A K, Hafner E, Liebhart E.
The
distribution of nuchal translucency at 10-13 weeks of
pregnancy.
Prenat
Diagn.
1998;
18
281-286
-
23
Sebire N J, Snijders R J, Davenport M, Greenough A, Nicolaides K H.
Fetal
nuchal translucency thickness at 10-14 weeks" gestation and
congenital diaphragmatic hernia.
Obstet
Gynecol.
1997;
90
943-46
-
24
Shepard T H, Fantel A G.
Pathogenesis
of congenital defects associated with Turner"s syndrome: The role of
hypoalbuminemia and edema.
Acta Endocrinol Suppl
(Copenh).
1986;
279
440-47
-
25 Snijders R JM, Nicolaides K H. Assessment
of risk. In: Ultrasound Markers for Fetal Chromosomal
Defects. Carnforth. Parthenon Publishing New York,
London, 1996: 109-113
-
26
Snijders R JM, Noble P, Souka A, Nicolaides K H.
UK
multicentre project on assessment of risk of trisomy 21 by maternal age and
fetal nuchal-translucency thickness at 10-14 weeks of
gestation.
Lancet.
1998;
351
343-346
-
27
Souka A P, Snijders R J, Novakov A, Soares W, Nicolaides K H.
Defects
and syndromes in chromosomally normal fetuses with increased nuchal
translucency thickness at 10-14 weeks of gestation.
Ultrasound
Obstet
Gynecol.
1998;
11
391-400
-
28
Spencer K, Souter V, Tul N, Snijders R, Nicolaides K H.
A
rapid screening program for trisomy 21 at 10-14 weeks using fetal nuchal
tranclucency, maternal serum free β-hCG and PAPP-A.
Ultrasound
Obstet
Gynecol.
1999;
13
231-237
-
29
Szabo J, Gellen J.
Nuchal
fluid accumulation in trisomy-21 detected by vaginosonography in first
trimester.
Lancet.
1990;
336
1133
-
30
Tul N, Spencer K, Noble P, Chan C, Nicolaides K.
Screening
for trisomy 18 by nuchal translucency and maternal serum free β-hCG and
PAPP-A at 10-14 weeks of gestation.
Prenat
Diagn.
1999;
19
1035-1042
-
31
von
Kaisenberg C S, Huggon I, Hyett J A, Farzaneh F, Nicolaides K H.
Cardiac
expression of sarcoplasmic reticulum calcium ATPase in fetuses with trisomy 21
and trisomy 18 presenting with nuchal translucency.
Fetal Diagn
Ther.
1997;
12
270-73
-
32
von
Kaisenberg C S, Brand-Saberi B, Christ B, Vallian S, Farzaneh F, Nicolaides K H.
Collagen
type VI gene expression in the skin of trisomy 21 fetuses.
Obstet
Gynecol..
1998;
91
319-323
-
33
von
Kaisenberg C S, Krenn V, Ludwig M, Nicolaides K H, Brand-Saberi B.
Morphological
classification of nuchal skin in fetuses with trisomy 21, 18 and 13 at
12-18 weeks and in a trisomy 16 mouse.
Anat
Embryol.
1998;
197
105-124
-
34
von
Kaisenberg C S, Nicolaides K H, Brand-Saberi B.
Lymphatic
vessel hypoplasia in fetuses with Turner syndrome.
Hum
Reprod.
1999;
14
823-826
-
35
von
Kaisenberg C S, Brand-Saberi B, Jonat W, Nicolaides K H.
Pathophysiology
of increased nuchal translucency in chromosomally abnormal
fetuses.
Pren Neonat
Med.
1999;
4
1-10
-
36
Wald N J, Kennard A, Hackshaw A K.
First
Trimester serum screening for Down`s Syndrome.
Prenat
Diag.
1995;
15
1227-1240
-
37
Wald N J, Watt H C, Hackshaw A K.
Integrated
screening for Down`s syndrome based on tests performed during the first
and second trimesters.
N Engl J
Med.
1999;
341
461-463
-
38
Wissenschaftlicher Beirat der
Bundesärztekammer .
Richtlinien zur pränatalen Diagnostik
von Krankheiten und Krankheitsdispositionen.
Dt
Ärztebl.
1998;
95
3236-3242
1 Die Verfasser widmen diese Arbeit Herrn Prof. Dr. med. H. H.
Stange zu seinem 80.
Geburtstag.
Korrespondenz
Privatdozent Dr. Bernd Eiben
Institut für
klinische Genetik Nordrhein
Virchowstraße 20
46047
Oberhausen
Fax: 0208/8813557
eMail: eiben@cityweb.de
URL: http://www.eurogen.de