Zespoły zwiÄ zane z otyłościÄ w aspekcie problemów perinatologicznych i położniczych

Recent considerable changes in obstetrics resulted in the fact that fetus has become the patient who can be successfully diagnosed and treated in the mother's womb. Early diagnosis of congenital malformation and syndromes is of a crucial importance for further treatment methods and for the development of pregnancy. Obesity-related syndromes, such as Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Sotos syndrome, Weaver's syndrome, Periman's syndrome or Bardet-Biedl syndrome proved to be a serious perinatological problem due to their heterogenous etiology and often unknown way of inheritance. In these syndromes, assessment of fetus karyotype, biochemical examination or ultrasonographic markers don't allow us to establish unmistakable diagnosis in the course of gestation. In syndromes related to uniparental disomy, intrauterine growth retardation of fetus (IUGR) is frequently observed, while fetal macrosomy occurs only rarely. One of the accompanying uniparental disomy in fetus is aberration (most often trisomy) observed in placenta. In these cases the fetus karyotype is normal while phenotypical structural changes, most often cysts, can be observed in placenta. Maternal uniparental disomy UPD15 occurs in Prader-Willi syndrome, paternal uniparental disomy in Angelman syndrome, UPDpat6 is observed in temporary neonatal diabetes (TNDM), and UPDmat7 can be found in Silver-Russel syndrome. In uniparental disomy of chromosomes 2, 9, 16 and 20, intrauterine growth retardation (IUGR) is also observed. Intrauterine growth retardation (IUGR) or retarded development of fetus (small for gestational age-SGA) (AC<10 pc of mass expected in particular gestation period) result in perinatological morbidity and mortality rates being 3-6 times as high. In such cases complications in pregnant women, such as premature labor or pregnancy-induced hypertension are also more frequent. There also occur adaptative and developmental disturbances in neonates, often intensified by prematurity and various additional defects. Due to diagnosis made before the 34th week of pregnancy, as much as 70% of fetal and neonatal deaths can be avoided. In case of fetal macrosomy (large for gestational age - LGA) (AC>95c), when the fetal mass is >4000 g, perinatological morbidity and mortality rates are twice as high due to mechanical injuries of fetal head, trunk and shoulders. Macrosomy is connected with such syndromes as: Beckwith-Wiedemann syndrome UPDpat11 (macrosomy, omphalocele, hepatomegaly and splenomegaly), Perlman's syndrome (macrosomia, flattened facial skeleton, retreating mandibula, abnormalities in genitourinary system, early high mortality), Sotos syndrome and Bardet-Biedl syndrome. In some of these syndromes a frequent occurrence of embryonic neoplasm is observed. Therefore early diagnosing and providing the baby with specialistic medical care immediately after its birth is of deciding importance.