Quality of life in patients with gastroschisis is comparable with the general population: A questionnaire survey.

AIM: To evaluate long-term quality of life and somatic growth of patients with gastroschisis and compare them with the general population. METHODS: We performed a questionnaire survey of the quality of life of our patients treated between 2004-2012. RESULTS: A questionnaire was sent to our 56 patients with gastroschisis, 38 mothers of patients (68%) responded to the questionnaire. 33 of 38 mothers claim that the quality of life of their child is very good, 4 of them responded that it is good. 1 mother confessed that the quality of life was very poor. Anthropometric data show comparable results with the standard population except for patients of 1 year of age who still have lower weight (P<0.001) and body height in the 5th percentile and patients of 3 years of age who are also significantly thinner. 13% of patients in our study group have gastrointestinal problems. 9 patients (24%) attend follow-up at the neurological center (Attention Deficit Hyperactivity Disorder n=6, mental retardation n=1, dysarthria n=2), however, overall intellectual abilities are within normal range. 7 patients underwent surgery for umbilical (n=3) or inguinal hernia (n=4), 2 patients were operated on for undescended testicles, 3 patients were operated on for an adhesive ileus. 92% of mothers are very satisfied with the cosmetic result of the scar. CONCLUSION: The study has shown that the majority of patients after operation of gastroschisis have a very good quality of life without limitation in comparison with the general population. The presented anthropometric data confirm that the development of patients with gastroschisis is favourable.

Efficacy and safety of ursodeoxycholic acid in patients with intrahepatic cholestasis of pregnancy.

UNLABELLED:  Background and aims. Patients with intrahepatic cholestasis of pregnancy (ICP) benefit from ursodeoxycholic acid (UDCA) treatment. Since there is still certain reluctance to use UDCA in pregnant women, mainly due to warnings in the official SPC information in respective drug leaflets, our objective was to assess the efficacy and safety of UDCA during pregnancy. MATERIAL AND METHODS: Our retrospective multicentric study was performed on 191 consecutive pregnant women with ICP treated with UDCA. Any maternal and/or fetal complications of the UDCA treatment were searched for; healthy pregnant women (n = 256) served as controls. RESULTS: The UDCA treatment improved liver disease status in the majority of the affected women (86.1%). This treatment was well tolerated, with only negligible skin reactions (0.5%) and mild diarrhea (4.7%). No complications attributable to UDCA treatment were detected during the fetal life, delivery, or the early neonatal period. CONCLUSION: We confirmed the good efficacy and safety of UDCA treatment in pregnancy for both mothers and fetuses/neonates.

Isolated prenatal ultrasound findings predict the postnatal course in gastroschisis.

PURPOSE: The aim of the study was to identify which prenatal ultrasonographic findings in fetuses with gastroschisis correlate with complicated postnatal outcome. METHODS: Ultrasound findings at the 30th week of pregnancy and medical reports were statistically analyzed to identify independent prenatal ultrasonographic predictors of postnatal outcome. RESULTS: Completed prenatal data were gathered from 64 pregnancies. Prenatal intra-abdominal bowel dilatation (cutoff 10 mm) correlated with the presence of atresia (p < 0.01), longer administration of parenteral nutrition, extended hospital stay (median 53 vs. 21 days; 68 vs. 36 days, both p < 0.05), and greater number of additional surgical procedures (p < 0.05). Infants with antenatal presence of thickened bowel wall (greater than or equal to 3 mm) required longer administration of parenteral nutrition (median 34 vs. 20 days; p < 0.01) and prolonged stay (median 44 vs. 37 days; p < 0.05). Presence of oligohydramnion (amniotic fluid index below 8 cm) was connected with longer administration of parenteral nutrition in newborns (median 30 vs. 16 days; p < 0.05). CONCLUSION: The isolated presence of oligohydramnion with amniotic fluid index below 8 cm, thickened bowel wall equal to or more than 3 mm and the prenatal intra-abdominal dilatation with 10 mm cutoff had significant predictive value for the adverse postnatal outcome of patients with gastroschisis.

Prenatal diagnosis of congenital epulis by 2D/3D ultrasound and magnetic resonance.

Congenital epulis is a rare benign oral cavity tumor that usually arises from the maxillary alveolar mucosa. It is also known as congenital gingival granular cell tumor. Prenatal diagnosis is uncommon and mostly confined to the third trimester. We report a case of congenital epulis, which was referred to our department at 35 weeks of gestation. Both images from our prenatal 2D/3D ultrasound (including Doppler technique) and magnetic resonance examination are presented. A baby girl weighing 2,800 g was delivered spontaneously at 36 weeks and 1 day. The newborn had to be intubated immediately after delivery. A simple excision of the mass was performed on the first day of neonatal life after clinical examination by our pediatric stomatologists confirmed the presence of a tumor resembling epulis. The correctness of this diagnosis was subsequently confirmed by histogenesis. Photographs from the operating room show the postnatal appearance of the tumor. The baby was discharged at the age of 19 days and has remained well at follow-up controls.

Delayed delivery of a twin - a hazard or an acceptable method? Prospective study.

OBJECTIVE: To examine the possibility of postponement of the delivery of fetus B after preterm delivery or late abortion of fetus A in multiple pregnancy. METHODS: Between January 2000 and September 2010, we tried to delay delivery of the second twin in 18 cases. Group A includes women that experienced a preterm premature rupture of the membranes in fetus A (PPROM), group B includes women who presented with regular uterine activity and the vaginal finding indicated unavoidable late miscarriage or preterm delivery. RESULTS: Thirteen (72.22%) of the 18 attempts were evaluated as unsuccessful. The interval of delay of delivery of fetus B ranged between 24 and 384 hours. Five cases were successful. CONCLUSION: Indication for applying this therapeutic procedure to a pregnant woman must be strictly selective. The procedure will be also in future more or less reserved for women in which subsequent pregnancy is for different reasons highly improbable.

Quantification of extracellular DNA using hypermethylated RASSF1A, SRY, and GLO sequences--evaluation of diagnostic possibilities for predicting placental insufficiency.

This study evaluated quantification of fetal extracellular DNA in maternal plasma for differentiation between cases at risk of onset of placental-insufficiency-related complications and normal pregnancies. Using real-time polymerase chain reaction, fetal (sex-determining region Y [SRY] and hypermethylated RASSF1A sequence) and total (beta-globin [GLO] gene) extracellular DNA was examined in 70 normal pregnancies, 18 at risk of placental-insufficiency-related pregnancy complications, 24 preeclampsia with or without (w or w/o) intrauterine growth retardation (IUGR) (median 34.0 week), and 11 IUGR (median 28.5 week). IUGR was diagnosed when estimated fetal weight was below the 10th percentile for evaluated gestational age. Although increased levels of extracellular DNA were detected in pregnancies with preeclampsia w or w/o IUGR relative to controls (RASSF1A, p < 0.001; SRY, p = 0.009; GLO, p < 0.001), quantities of fetal extracellular DNA in IUGR were not statistically significant (RASSF1A, p = 0.21; SRY, p = 0.2). RASSF1A, SRY, and GLO achieved 93.1%, 93.6%, and 92.1% accuracy for differentiation between normal pregnancy and preeclampsia w or w/o IUGR. Lower sensitivity was observed for pregnancies with onset of IUGR (RASSF1A, 60.0%; SRY, 80.0%; GLO, 72.7%), but did not influence final accuracy (RASSF1A, 91.6%; SRY, 92.5%; GLO, 89.5%). Among 18 patients at risk, 8 pregnancies involving 3 female and 5 male fetuses developed preeclampsia (n = 4), IUGR (n = 3), and chronic placentopathy causing hypoxia (n = 1). Elevation of extracellular DNA was demonstrated in 3/5 (SRY), 1/8 (hypermethylated RASSF1A), and 4/8 (GLO) patients at the earliest 26 weeks and at the latest 2 weeks before the onset of symptoms. These data indicate that fetal and total extracellular DNA concentrations can be significantly elevated in plasma of patients who later developed placental-insufficiency-related pregnancy complications. However, this is strongly individualized, and not a rule for all cases, and probably depends on the actual occurrence of excessive placental trophoblast apoptosis.

Congenital gastric outlet obstruction by pyloric membrane: prenatal and postnatal diagnosis and management.

Congenital gastric outlet obstruction is a rare condition representing only 1% of all gastrointestinal atresias. Prenatal diagnosis is uncommon and mostly confined to the third trimester of cases presenting a combination of polyhydramnios with dilated stomach. We report a case of congenital gastric outlet obstruction by pyloric membrane which was diagnosed prenatally in the third trimester by sonography and magnetic resonance imaging. The anomaly appeared to be isolated, thus a favorable outcome was expected. A baby girl weighing 3,430 g was delivered spontaneously at 36 weeks. Postnatal imaging methods confirmed the presence of a congenital gastric obstruction. 21 h after delivery, the baby underwent laparotomy, at which time a malrotation and pyloric membrane were found and resolved. The postoperative course was uneventful and the baby was discharged at the age of 18 days and remains well at controls.

Predicting term birth weight using ultrasound and maternal characteristics.

OBJECTIVES: The aim of the study was to compare an ultrasound-based prediction formula of Shepard, Hadlock, our new equation and equation of Nahum based on maternal characteristics. STUDY DESIGN: Two groups of 125 (group A) and 130 (group B) healthy term pregnant women were sampled. Standard ultrasonographic measurements were performed and maternal characteristics recorded. A new birth weight equation was developed by multiple stepwise regression analysis from the group A data and then compared to the different birth weight prediction equations of Hadlock, Shepard and Nahum on group B. RESULTS: New prediction equation: log(10) EFW=0.64041xBPD-0.03257xBPD(2)+0.00154xACxFL. Our new (Halaska) and Hadlock's ultrasound estimations are comparable. Both equations are superior to Shepard and Nahum's equations. The Nahum equation is comparable to the Shepard estimation. Halaska equation tends to have the highest overall accuracy, Hadlock's estimation predicts better fetuses over 4000g, but this needs to be further validated. CONCLUSIONS: The Halaska and Hadlock's estimations are comparable to one another; the Nahum equation is comparable to Shepard's and can be used as simple, inexpensive and approximative estimate.

Non-invasive fetal RHD exon 7 and exon 10 genotyping using real-time PCR testing of fetal DNA in maternal plasma.

OBJECTIVE: In this prospective study, we assessed the feasibility of foetal RHD genotyping by analysis of DNA extracted from plasma samples of Rhesus (Rh) D-negative pregnant women using real-time PCR and primers and probes targeted toward exon 7 and 10 of RHD gene. METHODS: We analysed 24 RhD-negative pregnant woman and 4 patients with weak D phenotypes at a gestational age ranging from 11th to 38th week of gestation and correlated the results with serological analysis of cord blood after the delivery. RESULTS: Non-invasive prenatal foetal RHD exon 7 genotyping analyses of maternal plasma samples was in complete concordance with the serological analysis of cord blood in all 24 RhD-negative pregnant women delivering 12 RhD-positive and 12 RhD-negative newborns. RHD exon-10-specific PCR amplicons were not detected in 2 out of 12 studied plasma samples from women bearing RhD-positive foetus, despite the positive amplification in RHD exon 7 region observed in all cases. In 1 case red cell serology of cord blood revealed that the mother had D-C-E-c+e+ C(w)- and the infant D+C-E-c+e+ C(w)+ phenotypes. RhD exon 10 real-time PCR analysis of cord blood was also negative. These findings may reflect that DC(w)- paternally inherited haplotype probably possesses no RHD exon 10. In another case no cord blood sample has been available for additional studies. The specificity of both RHD exon 7 and 10 systems approached 100% since no RhD-positive signals were detected in women currently pregnant with RhD-negative foetus (n = 8). Using real-time PCR and DNA isolated from maternal plasma, we easily differentiated pregnant woman whose RBCs had a weak D phenotype (n = 4) from truly RhD-negative patients since the threshold cycle (C(T)) for RHD exon 10 or 7 amplicons reached nearly the same value like C(T) for control beta-globin gene amplicons detecting the total DNA present in maternal plasma. However in these cases foetal RhD status cannot be determined. CONCLUSION: Prediction offoetal RhD status from maternal plasma is highly accurate and enables implementation into clinical routine. We suggest that safe non-invasive prenatal foetal RHD genotyping using maternal plasma should involve the amplification of at least two RHD-specific products.

Non-invasive fetal RHD and RHCE genotyping using real-time PCR testing of maternal plasma in RhD-negative pregnancies.

We assessed the feasibility of fetal RHD and RHCE genotyping by analysis of DNA extracted from plasma samples of RhD-negative pregnant women using real-time PCR and primers and probes targeted toward RHD and RHCE genes. We analyzed 45 pregnant women in the 11th to 40th weeks of pregnancy and correlated the results with serological analysis of cord blood after delivery. Non-invasive prenatal fetal RHD exon 7, RHD exon 10, RHCE exon 2 (C allele), and RHCE exon 5 (E allele) genotyping analysis of maternal plasma samples was correctly performed in 45 out of 45 RhD-negative pregnant women delivering 24 RhD-, 17 RhC-, and 7 RhE-positive newborns. Detection of fetal RHD and the C and E alleles of RHCE gene from maternal plasma is highly accurate and enables implementation into clinical routine. We recommend performing fetal RHD and RHCE genotyping together with fetal sex determination in alloimmunized D-negative pregnancies at risk of hemolytic disease of the newborn. In case of D-negative fetus, amplification of another paternally inherited allele (SRY and/or RhC and/or RhE positivity) proves the presence of fetal DNA in maternal circulation.