Intrauterine growth restriction in the course of Silver-Russell syndrome - a case report
<p>Intrauterine fetal growth restriction (IUGR) is one of the most serious complications of pregnancy. It affects an average of 8% of live-born newborns in developed countries, and up to 15-20% in developing countries[1, 2, 3].</p><p>It is associated with an increased rate of intrauterine deaths and pregnancy complications, including preterm deliveries and perinatal deaths. In children, abnormalities in psychophysical development and a higher incidence, including in adulthood, of conditions such as obesity, diabetes, and metabolic syndrome are observed[1, 2, 7, 8 , 9]. IUGR refers to the inability of the fetus to reach its full growth potential during intrauterine life [4, 5, 6]. Many times the term hypotrophy is used interchangeably. According to most authors, IUGR is diagnosed when two ultrasound measurements of the fetus show excessively slow growth rates and/or when birth weight/length is less than 2 SD ( standard deviations), or 10th percentile relative to gestational age. In severe forms, birth weight or AC ( abdominal circumference) correspond to values below the 3rd Centile. [6, 8]. The etiology of intrauterine growth retardation is multifactorial, and despite advances in medicine, it is often, even in 40%, impossible to identify . We distinguish maternal causes ( among others.: hypertension, kidney disease, cardiovascular disease, diabetes mellitus, thrombophilias, antiphospholipid syndrome, genetic factors, drugs), fetal(mainly genetic abnormalities, congenital malformations, intrauterine infections, metabolic blocks), placental (abnormalities in placental structure and capacity, pre-eclampsia), environmental (low socioeconomic status of the mother, stimulants, nutritional deficiencies) [1, 9, 10, 11, 12].</p><p>The management of suspected IUGR should include a thorough general medical and obstetric history, assessment of risk factors to identify pregnant women requiring enhanced surveillance, and detailed imaging and laboratory tests. Ultrasonography of the fetus (evaluation of anatomy, size , proportion, growth dynamics) is the primary diagnostic test. It is also necessary to monitor fetal well-being with cardiotocography (ktg), assessment of blood flow in selected vessels ( usg doppler), amniotic fluid volume and biophysical profile. Appropriate laboratory tests are performed to confirm or exclude maternal chronic diseases, intrauterine infections, pre-eclampsia, HELLP syndrome and other pregnancy pathologies that may affect growth disorders [12,13]. In the absence of a clear cause leading to IUGR, genetic testing is important. Maternal genes are believed to have a major impact on the baby's birth weight. However, also many chromosomal aberrations in the fetus are associated with intrauterine growth retardation [6, 12]. An example is Silver- Russell syndrome (SRS), which varies widely in the type of genetic alterations present and how they are inherited. Mutations affect chromosome 11, 7, among others, and are associated with characteristic phenotypic features, which include primarily bone lesions in the form of : scoliosis, limb length disproportion, toe fusion, elbow joint lesions. According to the literature, between 1:50,000 and 1:100,000 children are born with this syndrome [14, 15, 16].</p><p>The main goal of maternal and child care in pregnancy complicated by intrauterine fetal growth retardation is to ensure and strictly assess fetal well-being and to choose the optimal delivery date [6, 12].</p>.





