@article{2986148, title = "Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol", author = "Iliescu, D. and Tudorache, S. and Comanescu, A. and Antsaklis, P. and Cotarcea, S. and Novac, L. and Cernea, N. and Antsaklis, A.", journal = "Ultrasound in Obstetrics and Gynecology", year = "2013", volume = "42", number = "3", pages = "300-309", issn = "0960-7692, 1469-0705", doi = "10.1002/uog.12489", keywords = "adult; central nervous system; clinical trial; congenital heart malformation; Doppler echocardiography; echography; feasibility study; female; fetus echography; first trimester pregnancy; human; multicenter study; pregnancy; procedures; prospective study; article; color ultrasound flowmetry; congenital disorder; congenital heart malformation; congenital malformation; Doppler echocardiography; echography; fetus echography; methodology; prenatal diagnosis; screening; ultrasound, Adult; Central Nervous System; Echocardiography, Doppler, Color; Feasibility Studies; Female; Heart Defects, Congenital; Humans; Pregnancy; Pregnancy Trimester, First; Prospective Studies; Ultrasonography, Prenatal, color Doppler; congenital abnormalities; first trimester; prenatal diagnosis; screening; ultrasound, Adult; Central Nervous System; Echocardiography, Doppler, Color; Feasibility Studies; Female; Heart Defects, Congenital; Humans; Pregnancy; Pregnancy Trimester, First; Prospective Studies; Ultrasonography, Prenatal", abstract = "Objective: To assess the potential of first-trimester sonography in the detection of fetal abnormalities using an extended protocol that is achievable with reasonable resources of time, personnel and ultrasound equipment. Methods: This was a prospective two-center 2-year study of 5472 consecutive unselected pregnant women examined at 12 to 13 + 6 gestational weeks. Women were examined using an extended morphogenetic ultrasound protocol that, in addition to the basic evaluation, involved a color Doppler cardiac sweep and identification of early contingent markers for major abnormalities. Results: The prevalence of lethal and severe malformations was 1.39%. The first-trimester scan identified 40.6% of the cases detected overall and 76.3% of major structural defects. The first-trimester detection rate (DR) for major congenital heart disease (either isolated or associated with extracardiac abnormalities) was 90% and that for major central nervous system anomalies was 69.5%. In fetuses with increased nuchal translucency (NT), the first-trimester DR for major anomalies was 96%, and in fetuses with normal NT it was 66.7%. Most (67.1%) cases with major abnormalities presented with normal NT. Conclusions: A detailed first-trimester anomaly scan using an extended protocol is an efficient screening method to detect major fetal structural abnormalities in low-risk pregnancies. It is feasible at 12 to 13 + 6 weeks with ultrasound equipment and personnel already used for routine first-trimester screening. Rate of detection of severe malformations is greater in early- than in mid-pregnancy and on postnatal evaluation. Early heart investigation could be improved by an extended protocol involving use of color Doppler. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd." }