Importance of the integrated test in the Down's syndrome screening algorithm
Jazyk angličtina Země Anglie, Velká Británie Médium print-electronic
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
29575979
DOI
10.1177/0969141317752533
Knihovny.cz E-zdroje
- Klíčová slova
- Antenatal screening, Down’s syndrome, integrated test,
- MeSH
- algoritmy MeSH
- bezbuněčný systém MeSH
- dospělí MeSH
- Downův syndrom diagnóza MeSH
- druhý trimestr těhotenství MeSH
- falešně pozitivní reakce MeSH
- lidé MeSH
- lidský choriogonadotropin, beta podjednotka krev MeSH
- měření nuchální translucence MeSH
- peptidové fragmenty krev MeSH
- plošný screening metody MeSH
- prenatální diagnóza metody MeSH
- první trimestr těhotenství MeSH
- registrace MeSH
- rozhodování MeSH
- těhotenský plazmatický protein A metabolismus MeSH
- těhotenství MeSH
- ultrasonografie prenatální MeSH
- věk matky MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- lidský choriogonadotropin, beta podjednotka MeSH
- PAPPA protein, human MeSH Prohlížeč
- peptidové fragmenty MeSH
- těhotenský plazmatický protein A MeSH
- urinary gonadotropin fragment MeSH Prohlížeč
OBJECTIVE: In the Czech Republic, over 97% of all pregnant women undergo some type of antenatal screening for Down's syndrome. In about 95% of cases with a confirmed fetal chromosomal abnormality, the pregnancy is terminated. The most commonly used test is the first trimester combined test. We investigated the impact of implementing an integrated sequential test to improve the detection of Down's syndrome pregnancies. METHODS: Data on the incidence of congenital defects, number of births, and affected pregnancies terminated are recorded in the National Registry of Congenital Anomalies. Anonymous data on cases of Down's syndrome diagnosed antenatally or postnatally between 2010 and 2015 in one of the large antenatal care centers were analyzed. RESULTS: There were 600 diagnoses of Down's syndrome (5.7 per 1000 births), 90% of which were made antenatally. Of antenatally detected cases, 80% were indicated for diagnostic procedure by multimarker screening results. In the multimarker screen positive group, 75% cases were first trimester positive and 25% second trimester positive (most of these had positive integrated test results). Among Down's syndrome cases indicated for antenatal diagnosis by multimarker screening results 6.25% (n = 26) were first trimester negative, and became positive after integration with the second trimester screening results. CONCLUSIONS: Results from five major Czech antenatal centers confirm that an integrated sequential test would detect 80-85% of Down's syndrome fetuses in the first trimester and at least an extra 5-10% of Down's syndrome pregnancies in the second trimester of pregnancy. These are important data that should be considered in implementing the national antenatal screening program.
Centre for Medical Genetics Ceske Budejovice Czech Republic
Department of Medical Genetics Thomayer Hospital Prague Czech Republic
GENNET Centre for Genetics and Foetal Medicine Prague Czech Republic
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