First-trimester screening for chromosomal abnormalities: advantages of an instant results approach.
Protocols that include first trimester screening for fetal chromosome abnormalities have become standard of care throughout the United States. Earlier screening allows for first trimester diagnostic testing in cases found to be at increased risk. However, first trimester screening requires coordination of the nuchal translucency ultrasound screening (NT) and biochemical screening, during early, specific, narrow, but slightly different gestational age ranges. Instant results can often be provided at the time of the NT ultrasound if preceded by the programs that perform the biochemical analyses; this optimizes the benefits of the first trimester approach while improving efficiency and communication with the patient. This article discusses the benefits and logistics of such an approach.
Norton
Mary E
ME
Perinatal Genetic Services, The Permanente Medical Group, Kaiser Permanente, 3505 Broadway, Northern California, Oakland, CA 94611, USA. mary.e.norton@kp.org
D002869:Chromosome Aberrations; D042241:Early Diagnosis; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D008403:Mass Screening; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis