title: Routine screening for fetal anomalies: expectations.
abstract: Ultrasound has become a routine part of prenatal care. Despite this, the sensitivity and specificity of the procedure is unclear to many patients and healthcare providers. In a small study from Canada, 54.9% of women reported that they had received no information about ultrasound before their examination. In addition, 37.2% of women indicated that they were unaware of any fetal problems that ultrasound could not detect. Most centers that perform ultrasound do not have their own statistics regarding sensitivity and specificity; it is necessary to rely on large collaborative studies. Unfortunately, wide variations exist in these studies with detection rates for fetal anomalies between 13.3% and 82.4%. The Eurofetus study is the largest prospective study performed to date and because of the time and expense involved in this type of study, a similar study is not likely to be repeated. The overall fetal detection rate for anomalous fetuses was 64.1%. It is important to note that in this study, ultrasounds were performed in tertiary centers with significant experience in detecting fetal malformations. The RADIUS study also demonstrated a significantly improved detection rate of anomalies before 24 weeks in tertiary versus community centers (35% versus 13%). Two concepts seem to emerge from reviewing these data. First, patients must be made aware of the limitations of ultrasound in detecting fetal anomalies. This information is critical to allow them to make informed decisions whether to undergo ultrasound examination and to prepare them for potential outcomes.Second, to achieve the detection rates reported in the Eurofetus study, ultrasound examination must be performed in centers that have extensive experience in the detection of fetal anomalies.
authors.affiliation: Prenatal Diagnosis Center, Room G330, California Pacific Medical Center, 3700 California Street, San Francisco, CA 94118, USA. jgoldberg@fetaldx.com
authors.forename: James D
authors.initials: JD
authors.lastname: Goldberg
mesh_terms: D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000453:epidemiology; D003951:Diagnostic Errors; D005260:Female; D005865:Gestational Age; D006801:Humans; D008403:Mass Screening; D011247:Pregnancy; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal