Ultrasound screening for fetal major abnormalities at 11–14 weeks

Abstract

The first-trimester scan is important in routine antenatal care for early detection of fetal defects, and determination of the fetuses at risk of cardiac anomalies and genetic syndromes.

Increased nuchal translucency in euploid fetuses—what should we be telling the parents?

“…In experienced hands and with high-resolution ultrasound equipment the majority of severe malformations, as well as major CHD, may be detected by the end of the first trimester (Becker and Wegner, 2006;Dane et al, 2007;Lombardi et al, 2007;Chen et al, 2008;Timmerman et al, 2008;Timor-Trisch et al, 2009). This enables early reassurance for most women.…”

First Trimester Anomaly Scan—The Last Redoubt Won: Open Spina Bifida

“…39 Using a complete morphology protocol is a prerequisite for high detection rates of major anomalies, which can reach around 80%. [10][11][12][13][14][15][16][17] This figure is not far from the efficiency of ST anomaly scan. 28,33,37,40 A systematic review on the ST anomaly scan effectiveness reported that about 45% of the major anomalies were detected routinely, 41 with large differences between studies in detection rates which ranged from 15 to 85%, and also large differences in overall detection rates according to the type of fetal anomaly.…”

“…In a series of 18 published screening studies [4][5][6][7][8][9][10][11][12][13][14][15][16][17]34,[74][75][76] reporting on the effectiveness of the first-trimester scan in the diagnosis of fetal major abnormalities, all using a standard screening protocol, we numbered 118110 cases and we collected 5 cases diagnosed, and 34 cases missed. This underlines the difficulties encountered in OSB diagnosis in the FT. On the contrary, it is likely that adding at least a marker for OSB, we will be ending up by diagnosing the majority of cases, since introducing just a simple and reproducible parameter as BPD resulted in detecting half of the cases.…”

“…3 Moreover, at this GA, due to ever-growing resolution of the system used, we are able to detect the vast majority of major fetal congenital structural anomalies. [4][5][6][7][8][9][10][11][12][13][14][15][16][17] Recent literature reports high detection rates for all fetal systems' major anomalies, including, more recently, isolated congenital heart diseases. Nowadays, efforts are made to develop algorithms based on combinations of maternal characteristics, early ultrasound findings and biochemical testing of maternal blood.…”

“…[33][34][35][36][37] Gradually, the 11-13 WA scan evolved over the last 20 years from essentially a dating and genetic scan to one which also includes a basic checklist for examination of the whole fetal anatomy. Diseases that are either lethal or are associated with possible survival and severe immediate or long-term morbidity [4][5][6][7][8][9][10][11][12][13][14][15][16][17]38 are usually accessible at this GA. Common sense, supported by objective studies, tells us that parents want to know about any fetal problems as early in pregnancy as possible. 39 Using a complete morphology protocol is a prerequisite for high detection rates of major anomalies, which can reach around 80%.…”