Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers
Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers
The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women ?35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.
birth defect, congenital anomalies, down syndrome, prenatal diagnosis, trisomy 21, ultrasound
373-380
Wellesley, D.
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De Vigan, C.
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Baena, N.
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Cariati, E.
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Stoll, C.
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Boyd, P.A.
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Clementi, M.
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2004
Wellesley, D.
17cbd6c1-0efb-4df1-ae05-64a44987c9c0
De Vigan, C.
eb7fca32-5091-443b-bedd-704b5c4a6a21
Baena, N.
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Cariati, E.
dd3e2832-c6e1-4ac5-b53e-9bc520ecc8ea
Stoll, C.
fe1d8eb2-4e2b-410f-a8c2-67ca12004e75
Boyd, P.A.
c4a4a942-067b-43e8-9fa1-1a08406a8408
Clementi, M.
eeab5fd8-ef21-4fd0-b71f-1fa6026b6a8c
Wellesley, D., De Vigan, C., Baena, N., Cariati, E., Stoll, C., Boyd, P.A. and Clementi, M.
(2004)
Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers.
Annales de Génétique, 47 (4), .
(doi:10.1016/j.anngen.2004.09.005).
Abstract
The objective of this study was to evaluate the contribution of ultrasound scanning to the prenatal detection of trisomy 21 in a large unselected European population. Data from 19 congenital malformation registers in 11 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient. Routine serum screening was offered in four of the 11 countries and routine screening on the basis of maternal age amniocentesis in all. The results show that overall 53% of cases of trisomy 21 were detected prenatally with a range from 3% in Lithuania to 88% in Paris. Ninety-eight percent of women whose babies were diagnosed before 24 weeks gestation chose to terminate the pregnancy. Centres/countries that offer serum screening do not have a significantly higher detection rate of trisomy 21 when compared to those that offer maternal age amniocentesis and anomaly scanning only. Fifty percent of trisomy 21 cases were born to women aged 35 years or more. In conclusions, second trimester ultrasound plays an important role in the prenatal diagnosis of trisomy 21. Of those cases prenatally diagnosed, 64% of cases in women <35 years and 36% of those in women ?35 years were detected because of an ultrasound finding. Ultrasound soft markers accounted for 84% of the scan diagnoses. There is evidence of increasing maternal age across Europe with 50% of cases of trisomy 21 born to women aged 35 years or more.
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Published date: 2004
Keywords:
birth defect, congenital anomalies, down syndrome, prenatal diagnosis, trisomy 21, ultrasound
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Local EPrints ID: 25035
URI: http://eprints.soton.ac.uk/id/eprint/25035
PURE UUID: fdaa82ba-90f9-4f60-87e9-9482cfeef421
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Date deposited: 06 Apr 2006
Last modified: 15 Mar 2024 06:59
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Author:
D. Wellesley
Author:
C. De Vigan
Author:
N. Baena
Author:
E. Cariati
Author:
C. Stoll
Author:
P.A. Boyd
Author:
M. Clementi
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