title: First-trimester screening: an overview.
abstract: An improvement in prenatal screening for chromosomal defects has been achieved by combining sonography and biochemical markers. Analyzing markers taken from maternal blood such as pregnancy-associated plasma protein A and free beta-human chorionic gonadotropin in combination with the ultrasound marker nuchal translucency provides detection rates of 90% for the most important chromosomal anomalies. In addition, nuchal translucency is a marker for severe heart defects. This report discusses the potential of new markers such as the nasal bone.
authors.affiliation: Institute of Clinical Genetics Nordrhein, Hum. Genet., Virchowstr. 20, D-46047 Oberhausen, Germany. eiben@eurogen.de
authors.forename: Bernd
authors.initials: B
authors.lastname: Eiben
authors.forename: Ralf
authors.initials: R
authors.lastname: Glaubitz
mesh_terms: D000367:Age Factors; D015415:Biomarkers / Q000097:blood; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002869:Chromosome Aberrations; D004314:Down Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D009295:Nasal Bone / Q000000981:diagnostic imaging / Q000196:embryology; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal
chemical_list: D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A