Parental age as a risk factor for isolated congenital malformations in a Polish population.

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele.

Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.

BACKGROUND: Amniotic rupture sequence (ARS) is a disruption sequence presenting with fibrous bands, possibly emerging as a result of amniotic tear in the first trimester of gestation. Our comparative study aims to assess whether there is a difference in the clinical pattern of congenital limb and internal organ anomalies between ARS with body wall defect (ARS-BWD) and ARS without BWD (ARS-L). METHODS: Among 1,706,639 births recorded between 1998 and 2006, 50 infants with a diagnosis of ARS were reported to the Polish Registry of Congenital Malformations. The information on 3 infants was incomplete, thus only 47 cases were analyzed. These infants were classified into groups of ARS-L (38 infants) and ARS-BWD (9 infants). RESULTS: The ARS-BWD cases were more frequently affected by various congenital defects (overall p < 0.0001), and in particular by urogenital malformations (p = 0.003). In both groups, limb reduction defects occurred in approximately 80% of cases; however, minor and distal limb defects (phalangeal or digital amputation, pseudosyndactyly, constriction rings) predominated in the ARS-L group (p = 0.0008). The ARS-L group also had a higher frequency of hand and upper limb involvement. CONCLUSIONS: This observation suggests that amniotic band adhesion in ARS-L takes place at a later development stage. Although limited by a small sample size, our study contributes to the growing evidence that both ARS entities represent two nosologically distinct conditions.

Trends in diagnosis and prevalence of critical congenital heart defects in the Podkarpacie province in 2002-2004, based on data from the Polish Registry of Congenital Malformations.

This paper presents results of data collection regarding congenital heart defects (CHD) for the Polish Registry of Congenital Malformations (PRCM) from the Podkarpacie province in 2002-2004. Routine methods (fetal echocardiography, clinical examination) and recently also unique methods (screening echocardiography and pulse oximetry) were used for early detection of critical cardiac malformations. Critical CHD were detected there in 107 newborns in 2002-2004, so the mean prevalence reached 1.71/1000. Within this group, death rate decreased from 8 deaths in 2002 to 2 deaths in 2004, mainly thanks to improved detection and treatment of CHD.

[Concentration of procalcitonin and C-reactive protein in serum and erythrocyte sedimentation rate in active autoimmune diseases in children]. / Prokalcytonina, bialko C-reaktywne i odczyn opadania krwinek czerwonych w aktywnej fazie chorób autoimmunizacyjnych u dzieci.

UNLABELLED: Procalcitonin (PCT), a 116 amino acid prohormon of calcitonin is a new acute phase reactant with features different to other markers of inflammatory response. The aim of the study was to compare PCT and C-reactive protein (CRP) levels and erythrocyte sedimentation rate (ESR) in active autoimmune diseases in children. PCT, CRP and ESR were determined in 28 children with active autoimmune process in course of various diseases: ulcerative colitis (n = 7), Lesniowski-Crohn disease (n = 2), juvenile chronic arthritis (n = 9), autoimmune haemolytic anaemia (n = 4), dermatomyositis (n = 2), sklerodermia (n = 1), systemic lupus erythematodes (n = 1), Behcet's syndrome (n = 1), primary sclerosing cholangitis (n = 1). Serum PCT levels were measured by immunoluminometric assay, CRP by turbidometric assay, ESR was counted in millimetres after one hour. PCT exceeded 0.5 ng/ml in 5 cases (range: 0.0-2.4 ng/ml; mean: 0.4 +/- 0.1 ng/ml); CRP was above 0.5 mg/dl in 24 children (range: 0.2-25.9 mg/dl; mean: 7.1 +/- 1.2 mg/dl); ESR was above 10 mm/h in all but 2 cases (range: 3-124 mm/h; mean: 57 +/- 7 mm/h). CONCLUSION: Contrary to CRP and ESR, serum PCT level in children with autoimmune diseases remains low. However in some children with highly active autoimmune process slight elevation of PCT concentration is observed without evidence of bacterial infection.