24Congenital Malformations: Prenatal Diagnosis and Management | Biomed Grid

Congenital malformations are estimated to be 2-4% of all births. Despite their relatively low prevalence, fetal malformations are responsible for approximately 30% of perinatal deaths, and considerable infant morbidity in developed countries [1]. Fetal malforml formations can be defined as structural or functional anomalies that occur during intrauterine life and can be identified prenatally, at birth or later in life. Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital disorders are the major cause of new born deaths within the perinatal peroid, which can result in long-term disability with a significant impact on individuals, families, societies and health-care systems [2]. Prenatal diagnosis of congenital disease provides information for decisions during pregnancy and appropriate treatment parentally (timed delivery in tertiary care centers), it is assumed to improve perinatal and longterm outcome. However, this assumption has been demonstrated only for few specific subsets of malformations, and with conflicting results [3] showed that prenatal diagnosis reduced the overall pre- and post-operative mortality in fetuses affected by complete transposition. In another study [4]. preoperative conditions were improved in cases with complete transposition and hypoplastic left heart, without improvement in perinatal mortality. At 2 years the survival was the same in diagnosed as in undiagnosed fetuses with pulmonary Artesia with intact ventricular septum [5]. No improvement was seen in cases of hypoplastic left heart diagnosed antenatally versus postnatally [6]. Prenatal diagnosis, (discovered Over the last two decades) has greatly benefited from advances in ultrasound technology and in our ability to detect microscopic and submicroscopic chromosome abnormalities as well as single gene disorders, leading to substantive improvements in detection of such congenital anomalies. At present, invasive prenatal diagnosis continues to be the gold standard for pregnancies at increased risk for chromosomal anomaly or other genetic disease, with chorionic villus sampling being the procedure of choice for the first trimester. Whereas mid- trimester amniocentesis continues to be the most common form of invasive procedure for prenatal diagnosis [7].