دانلود رایگان ترجمه مقاله ارتباط مایع پشت گردن جنین و اختلالات جنینی (نشریه Jcdr 2013)

ارتباط مایع پشت گردن جنین و اختلالات جنینی؛ اهمیت و تاثیرات

The Associations of Nuchal Translucency and Fetal Abnormalities; Significance and Implications

Abstract

This review of literature describes the first-trimester nuchal translucency (NT) which forms the basis of new form of screening which can lead to a significant improvement in detection of congenital anomalies as compared to second trimester screening programs, the so called genetic-sonogram. A growing body of evidence-based studies has demonstrated that fetal NT can be a powerful prenatal screening tool and combined with first trimester serum markers, it can be incredibly promising in near future. It should be expressed as Multiple of median (MoM) and maintained and monitored like any laboratory analyte.

The aim of this review was to investigate the different hypotheses on the aetiology of increased NT. Using a computerized database (PubMed), articles on the aetiology of first-trimester NT were retrieved. Furthermore, the cited references of the retrieved articles were used to find additional articles. Based on ultrasonography, the associations of increased NT fetuses are described in relation with Down syndrome, Cardiac anomalies, and a diverse range of other anomalies. The review concludes that first trimester NT ultrasound has the potential to be used as an important tool for the detection of various congenital abnormalities and an early management can be implemented to reduce the mental trauma of expecting mothers by proper counseling and early diagnosis. For the precise measurements, it should be implemented in a meticulous and coherent manner.

1 Introduction

Prenatal Ultrasound is a widely accepted tool for detecting fetal anomalies during pregnancy and, once detected, further investigations are instigated, including fetal chromosome analysis, maternal and fetal investigations for infections, microarray analysis, and fetal echocardiogram and magnetic resonance imaging, when indicated. Such battery of investigations projects complete knowledge of the cause, prognosis, and recurrence risk of the diagnosed clinical problem. Common practice is to perform an ultrasound evaluation of fetal anatomy transabdominally at 18 to 22 weeks’ gestation [1].

NT is the normal fluid filled subcutaneous space between the back of the fetal skin and the overlying skin. An increased NT was first described as a measure greater than 95th percentile for a given crown rump length. However, recent reports have highlighted that adverse outcomes are much more common with an NT that exceeds a set threshold of 3.5mm (i.e. R 3.5mm), a measurement that essentially represents 99th percentile or more throughout the gestational age window for first trimester screening [2]. NT detection by ultrasound has emerged as a powerful prenatal screening strategy to diagnose a myriad of syndromes, but per se cannot be applied as a stand-alone benchmark in detecting structural and karyotyping related anomalies.

Present review looks into the associations of NT with reported fetal abnormalities and explores the published literature about the potential of NT in surfacing certain fetal anomalies and incorpo- Radiology Section rating this useful screening tool with adjunct ultrasonic parameters and serum markers for augmenting the diagnostic accuracy in first trimester.