ABSTRACT
Defects of the middle line are an heterogeneous group of congenital malformations due to commune pathogenetic mechanisms. We have made a case-control study about 150 newborns, who have at least 1 defect of the middle line. Results prove an excess of males between the cases, due mostly to hypospadias. We haven't found families with defects of the middle line with x-linked manner of hereditary transmission. We haven't found any particular risk present in cases and not in controls. We haven't found any case with 2 or more middle line defects.
Subject(s)
Congenital Abnormalities/genetics , Case-Control Studies , Cleft Lip/genetics , Cleft Palate/genetics , Esophageal Atresia/genetics , Esophageal Fistula/genetics , Female , Gestational Age , Humans , Hypospadias/genetics , Infant, Newborn , Male , Sex Factors , Trachea/abnormalitiesABSTRACT
During pregnancy, organism development and its differentiation are stimulated and modulated by fetal and placental hormones. However the exact role played by all the different growth factors has not been explained yet. This study summarizes knowledge about secretion, regulation and role of GH, IGF-1 and SRIF during perinatal age. It also reports the results of researches into GH, IGF-1 and SRIF in amniotic fluid, in mothers and in newborns at delivery and at four days of age. Amniotic fluid GH levels proved significantly higher during middle pregnancy that at delivery (p < 0.001); a significant difference was also found between mean GH concentrations observed in amniotic fluid collected at delivery in preterm and full-term pregnancies. In amniotic fluid, significant reductions of SRIF and IGF-1 concentrations correspond to a sudden decrease of GH concentration during the last months of pregnancy. Fetal serum GH levels resulted higher than venous cordonal GH concentration at birth (p < 0.001). High levels of IGF-1 were found in the amniotic fluid and in the maternal plasma. These values were higher than those observed in cord blood during pregnancy or at delivery. Preterm and full-term newborns showed similar serum GH levels at birth and at the age of 4 days. Mean GH values in newborns, both at birth and at the age of 4 days, proved to be significantly higher than the values of their mothers (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Amniotic Fluid/metabolism , Fetal Proteins/physiology , Growth Hormone/physiology , Infant, Newborn/blood , Insulin-Like Growth Factor I/physiology , Somatostatin/physiology , Female , Fetal Proteins/metabolism , Growth Hormone/metabolism , Humans , Insulin-Like Growth Factor I/metabolism , Pregnancy , Somatostatin/metabolismABSTRACT
Using data from the Italian Multicentric Birth Defect Registry a case-control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.
Subject(s)
Chorionic Villi Sampling/adverse effects , Fetal Diseases/etiology , Limb Deformities, Congenital , Abnormalities, Multiple/embryology , Abnormalities, Multiple/epidemiology , Case-Control Studies , Chromosome Aberrations/embryology , Chromosome Aberrations/epidemiology , Chromosome Disorders , Cohort Studies , Congenital Abnormalities/epidemiology , Congenital Abnormalities/etiology , Extremities/embryology , Female , Fetal Diseases/epidemiology , Gestational Age , Humans , Incidence , Italy/epidemiology , Male , Mandible/abnormalities , Mouth Abnormalities/embryology , Mouth Abnormalities/epidemiology , Pregnancy , Registries , Retrospective Studies , Risk FactorsABSTRACT
After a review of the literature, we present a case of a twice-pregnant patient who, affected by SLE, had successful outcomes for the conceptuses with a therapy based on cloroquine first and corticosteroids subsequently. The two pregnancies, however, seemed to be correlated with the temporary exacerbation of disease activity.
