значимость основных показаний к генетической пренатальной

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809
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-
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,
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,
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.
(
(NT)
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,
17
(31,48%), ,
,
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,
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. [4].
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.
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“
” n=809
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8
5
1
5
21
18
13
[1, 5, 6 .
4
1/700 – 1200
1/1000-6000
1/10000
1/500-1000
1/15000-20000
1
1
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XO
XXX
4
1
1
4
3
«cri du shat»
-
2
2
1/2000-3000
1/1200
1/50000
1/500
1/500
4
2
1
1
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3
20 (2,5 %)
34 (3,1 %)
?
:
,
-
-
,
35
.
[2, 3 .
34
I
, 29
945
,
,
86,6%
«
,
35
«
.
85,3% (
,
,
-
. 1).
,
III
»,
100
, 79 (79%)
35
,
-
. 2).
»,
2
,
NT mm
0-1,9
2-3,9
4-5,9
6-9,9
NT
.
A
B
A
B
A
B
A
B
: :
(n)
3749
2248
992
595
53
31
16
10
.
>35
9
7
6
5
29
25
17
14
15
11
10
7
8
6
6
4
NT (no screening test); B: NT, free
.
./n
.>35
21
5
0,002
0,8
3
0,002
0,8
21
0,03
0,9
9
0,03
0,8
11
0,28
0,7
5
0,32
0,7
4
0,5
0,7
2
0,6
0,7
HCG, PAPP-A (combined test)
:
,
-
2608
,
116
(4,45%),
(1/500 - 1000). [1, 5, 6 .
(0,85%)
( -
).
.
-
,
21
18.
9 2009
73
;
-
,
».
,
(NT):
7694
,
4810
NT,
.
2884 (NT,
free -HCG, PAPP-A) (
. 2) 8 .
,
35
NT
.
-
4
,
. 14
-
NT
«
»,
-
.
:
21
,
3
(
du chat”.
,
21,
“cri
)
,
,
,
–
-
8,6%,
.
Anamnesi:
-
-
7
.
-
.
:
35
-
1. Malone F.D., Canick J.A., Nyberg
D.A., Comstock C.H., Bukosky R. et al, Firsttrimester or second-trimester screening, or both,
for Down’s Syndrome, N. Engl. J. Med. 2005 –
353:2001-11;
2. Nicolaides K.H., Spencer K., Avgidou
K., Faiola S., Falcon O., Multicenter study of firsttrimester screening for trisomy 21 in 75.821 pregnancies: results and estimations of the potential
impact of individual risk-orientated two-stage of
first-trimester screening, Ultrasound Obstet. Gynecol. 2005 – 25: 221-6.
3. Palomaki G.E., Haddow J.E., Knight
G.J. et al, Risk-based prenatal screening for
trisomy 18 using alpha-fetoprotein, unconjugated
estriol and human chorionic gonadotropin. Prenat.
Diagn. 1995 – 15: 713-23.
4. Scazzina D., Taddei F., Chiavazza F.,
Venturini A., Raboni S., Zanoni P., Chorionic
villus sampling: casistic contribution and
considerations. Gynecological endocrinology, Vol.
3; supplement N ° 1, 1989.
5. Wald N.J., Huttly W.J., Hackshaw
A.K., Antenatal screening for Down syndrome
with the quadruple test, Lancet 2003 – 361: 835-1.
6. Wapner R., Thom E., Simpson J.L.,
Pergament E., Silver R., Filkins K. et al, First trimester screening for trisomies 21 and 18, N. Engl.
J. Med. 2003 – 349: 1405-13.
7. Maggi F., Grati F.R. and all., Chromosomal abnormalities delectable by prenatal sceening cover only half of the significant fetal cromosomopathy: an evaluation based on 115'576 invasive prenatal diagnoses. European Journal of Human Genetics Conference. Barcellona, 2008;
Vol.16, 2) May: 31.
8. http://www.camurrilamberto.it/genMen
del/gene1.html
.
21
18
-
.
9 2009