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First Trimester Ultrasound in Prenatal Diagnosis—Part of the Turning Pyramid of Prenatal Care

Director of the Maternal-Fetal Medicine Unit, Ma'ayanei Hayeshua Hospital, Bnei Brak 51544, Israel
J. Clin. Med. 2014, 3(3), 986-996; https://doi.org/10.3390/jcm3030986
Received: 26 August 2014 / Revised: 29 August 2014 / Accepted: 2 September 2014 / Published: 5 September 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 1)
First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11–13 weeks’ gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy. View Full-Text
Keywords: first trimester sonography; nuchal translucency; chromosomal aneuploidies; fetal anomalies first trimester sonography; nuchal translucency; chromosomal aneuploidies; fetal anomalies
MDPI and ACS Style

Neiger, R. First Trimester Ultrasound in Prenatal Diagnosis—Part of the Turning Pyramid of Prenatal Care. J. Clin. Med. 2014, 3, 986-996.

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