International journal of Gynecology, Obstetrics and Neonatal Care  (Volume 3 Issue 2)
 Detection of Fetal Defects in First Trimester by Ultrasound Examination - Abilities and Limitations International journal of Gynecology, Obstetrics and Neonatal Care
Pages 41-46

M. Yankova, V. Stratieva, P. Chaveeva and G. Hadjidekov

DOI: http://dx.doi.org/10.15379/2408-9761.2016.03.02.03

Published:  29  July 2016

Abstract
The development of prenatal diagnostics in the recent years and the introduction of the new cell free DNA testing for chromosomal abnormalities raised the question about the effectiveness of the well-known First trimester screening. The need to reassess and to determine the efficacy of the 11-14 week scans in detecting fetuses with chromosomal abnormalities and structural defects arose again. Could the First trimester screening be abandoned and replaced by the new tests? In our practice we find that at 11-14 weeks some abnormalities are always detectable, some can never be and others are potentially detectable depending on their association with increased Nuchal translucency (NT). Fetal structural abnormalities can be classified as major or minor and of early or late onset. After the introduction of a national screening program the prenatal detection rates for all congenital anomalies has increased considerably. Especially anencephaly, gastroschisis and exomphalos are amenable for early detection (in the first trimester). The aim of this study was to determine the efficacy of 11-14 week scan in detecting fetuses with structural anomalies that are almost always detectable in the recent years.
Keywords
 First trimester, fetal defects, holoprosencephaly, acrania, hypoplastic left heart syndrome, omphalocele, gastroschisis, megacystis, body stalk anomaly.
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