Importance of the integrated test in the Down's syndrome screening algorithm
Language English Country Great Britain, England Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't
- Keywords
- Antenatal screening, Down’s syndrome, integrated test,
- MeSH
- Algorithms MeSH
- Cell-Free System MeSH
- Adult MeSH
- Down Syndrome diagnosis MeSH
- Pregnancy Trimester, Second MeSH
- False Positive Reactions MeSH
- Humans MeSH
- Chorionic Gonadotropin, beta Subunit, Human blood MeSH
- Nuchal Translucency Measurement MeSH
- Peptide Fragments blood MeSH
- Mass Screening methods MeSH
- Prenatal Diagnosis methods MeSH
- Pregnancy Trimester, First MeSH
- Registries MeSH
- Decision Making MeSH
- Pregnancy-Associated Plasma Protein-A metabolism MeSH
- Pregnancy MeSH
- Ultrasonography, Prenatal MeSH
- Maternal Age MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Pregnancy MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Czech Republic MeSH
- Names of Substances
- Chorionic Gonadotropin, beta Subunit, Human MeSH
- PAPPA protein, human MeSH Browser
- Peptide Fragments MeSH
- Pregnancy-Associated Plasma Protein-A MeSH
- urinary gonadotropin fragment MeSH Browser
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
References provided by Crossref.org
