Congenital duodenal obstruction: does prenatal diagnosis improve the outcome?

Prenatal diagnosis of congenital duodenal obstruction (CDO) provides information about associated anomalies; helps plan the delivery, resuscitation, and neonatal surgery; and allows for appropriate family counseling. This report compares the outcomes of two groups of newborns: one with prenatal diagnosis of CDO (group I) and the other without (group II). Charts of the 23 newborns with CDO admitted to the Hospital of UNICAMP between 1993 and 2001 were retrospectively reviewed. Ten (44%) newborns had prenatal diagnosis of CDO. Among group I patients, the postnatal diagnosis was confirmed on the 1st day of life, whereas patients without prenatal diagnosis (group II) had the diagnosis of CDO confirmed at a mean age of 5.7 days (p=0.004). The mean ages at surgery, at total oral feeding, and at hospital discharge were also statistically lower among infants with prenatal diagnosis, and more complications occurred in group II patients. The earlier care could explain the statistically lower morbidity for patients with prenatal diagnosis, since they were able to undergo further investigation and surgical repair before any impairment to their clinical status could take place. We believe that prenatal diagnosis of CDO, associated with earlier surgery and adequate postoperative support, can provide lower morbidity, decrease the hospitalization period, and, therefore, decrease its costs to the state and to society.     

Congenital duodenal obstruction – Advances in diagnosis,surgical management,and associated controversies

Congenital duodenal obstruction (CDO) occurs due to intrinsic and extrinsic mechanisms but is most often caused by intrinsic duodenal atresia and stenosis. This review will summarize the history, epidemiology, and etiologies associated with the most common causes of CDO. The clinical presentation, complex diagnostic considerations, and current surgical repair options for duodenal atresia and stenosis will also be discussed. Finally, both historical and recent controversies which continue to affect the surgical decision-making in the management of these patients will be highlighted.     

Changes in the birth prevalence of orofacial clefts in Japan: Has the birth prevalence of orofacial clefts been affected by improved accuracy of prenatal diagnosis?

We have been conducting a survey on the birth prevalence of orofacial clefts, including cleft lip with or without cleft palate and cleft palate, in the Tokai area in central Japan every year for 37 years. Along with the yearly trends in the birth prevalence of orofacial clefts in that area for the past 37 years, we discuss whether the artificial abortion rate of fetuses with orofacial clefts has increased through the improved performance of ultrasonic imaging equipment. We also compare the yearly trends in the birth prevalence of congenital anomalies, including orofacial clefts, in Japan with those in other countries or areas where artificial abortion due to birth defects is legally permitted, and discuss the impact of improved accuracy of ultrasound imaging on the rate of artificial termination of pregnancy. The fact that the birth prevalence of orofacial clefts has basically remained unchanged for more than 30 years, even with recent more detailed prenatal diagnosis based on the improvement of ultrasonic diagnostic equipment, has allowed us tentatively to conclude that prenatal diagnosis is not currently threatening the right to life of the fetuses with orofacial clefts.     

Hepatic haemangioma—prenatal imaging findings,complications and perinatal outcome in a case series

Background  

The clinical presentation of foetal hepatic haemangioma (HH) is highly variable, from asymptomatic to life-threatening.     

Congenital ChagaśDisease: epidemiology, laboratorial diagnosis, prognosis and treatment

The authors review studies about epidemiology, clinical aspects and methods used in laboratorial diagnosis of congenital Chagas'disease, emphasizing the limitations in their specificity and sensibility, and suggest alternative methods to improve the accuracy and the quality of the laboratorial diagnosis of congenital Chaga?disease, essential to an efficient treatment.     

Perinatal outcome of illicit substance use in pregnancy—comparative and contemporary socio-clinical profile in the UK

The aim of the study was to determine the contemporary socio-clinical profile and perinatal outcome of illicit substance use in pregnancy in a large UK city and compare with published literature. Cases were identified retrospectively from the ‘cause for concern’ referrals over 5 years (2003–2007). Data was collected on mother–infant pair from medical notes and laboratory records. Chi-square and Mann–Whitney U tests were used where appropriate for statistical analysis. One hundred sixty-eight women were identified as using illicit substance in pregnancy. Smoking (97.4%), unemployment (85.4%) and single status (42.3%) were frequent. Besides controlled use of methadone, heroin, cannabis and benzodiazepines were the most commonly used drugs. Hepatitis C prevalence was high (29.9%) despite low antenatal screening rates (57.7%). Neonatal morbidity was related to prematurity (22.9%), small for dates (28.6%) and neonatal abstinence syndrome (NAS; 58.9%). By day 5 of life, 95.1% of the babies developing NAS and 96.1% of those requiring pharmacological treatment were symptomatic. Of the infants developing NAS, 31.7% required pharmacological treatment. A total of 82.5% babies went home with their mother, and 21.2% were placed on the Child Protection Register. Only 14.3% were breast feeding at discharge. Illicit substance use in pregnancy continues to be associated with significant maternal and neonatal morbidity, and the socio-clinical profile in this decade appears unchanged in the UK. Hepatitis C prevalence is high, and detection should be improved through targeted antenatal screening. Where facility in the community is unavailable, 5 days of hospital stay is sufficient to safely identify babies at risk of developing NAS. Most babies were discharged home with their mother.     

Non-traumatic spinal cord ischaemia in childhood – Clinical manifestation,neuroimaging and outcome

BackgroundSpinal cord ischaemia is rare in childhood and information on clinical presentation and outcome is scarce.MethodsThis is a retrospective analysis of eight patients and 75 additional cases from the literature. Data search included: patient's age, primary manifestation, risk factors, neuroimaging and outcome.ResultsFive female and three male patients gave consent to participate. Mean age was 12.5 years (10–15 years). Six patients presented with paraplegia; this was preceded by pain in four. Brown Sequard syndrome and quadriparesis were the two others' presenting condition. Sensation levels were thoracolumbar in seven cases. Bladder dysfunction only or bladder and bowel dysfunction were reported in eight and five patients respectively. Time to maximal symptom manifestation was <12 h in 7/8. Risk factors included surgery, minor trauma, recent infection, and thrombophilia. Mean follow-up was 3.3 years (0.25–6.3 years). Three patients remained wheelchair-dependent and three patients were ambulatory without aid. Bladder function recovered fully in five children. Most affected aspects of quality of life were physical and mental well-being and self-perception.T2-weighted-MR images showed pencil-like hyperintensity (8/8) in sagittal and H-shaped or snake-eyes-like lesion (6/8) in axial views.Analyses of all 83 patients were in congruence with the above results of the study group.ConclusionSpinal cord ischaemia in childhood presenting with pain, paraplegia, and bladder dysfunction has high morbidity concerning motor problems and quality of life. Acute arterial ischaemic event in children seems similar to adult events with respect to clinical presentation and, surprisingly, also in outcome.     

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia – and review of the literature

Pregnancy, delivery, and postpartal metabolic control was monitored biochemically in five patients (22–38 years of age) with clinically, enzymatically, and genotypically established classical galactosaemia and good dietary compliance. Three of the patients performed breast feeding of their newborns. Monitoring parameters were galactose-1-phosphate and galactitol concentrations in erythrocytes and urinary excretion of galactose, galactitol, galactonate, and lactose. During pregnancy, a small but steady increase of renal metabolite excretion rates was observed. After delivery, a moderate transient increase of metabolite concentrations with peak values within the first week post partum occurred, irrespective of breast feeding. Altogether, there was no evidence for clinically or subclinically significant changes of metabolic control during pregnancy, delivery, or lactation. In conclusion, a specific metabolic monitoring is apparently not required in pregnant galactosemic women, and breast feeding of the nongalactosemic offspring can be recommended.     

Revisiting a diagnosis of cystic fibrosis – Uncertainties and considerations

There is now increased knowledge and experience of newborn screening around the world. There is also a better understanding of CF gene analysis, informed by international databases. This has resulted in a small number of children and adults having their diagnosis of CF reversed. This article illustrates this issue with three cases. It considers how best to tell children and adults with their families, and the reactions that may be encountered. It also discusses practical issues of removing the diagnosis.     

Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital

The experiences in genetic counseling and prenatal diagnosis at a tertiary genetic center in India are described. Of 3500 subjects provided genetic counseling 28.7% were for prenatal diagnosis, 13.7% for mental retardation ±malformations, 11.5% for thalassemia, hemophilia and leukemia, 8.5% for neural tube defects and other malformations, and 8% for muscle dystrophy and spinal muscle atrophy. Chromosomal studies in blood (n = 5459) were for recurrent abortions (57.8%), delayed milestones (14.7%), malformations (11%), and infertility and amenorrhea (10.2%). Indications for amniotic fluid studies (n = 835) were advanced maternal age (35.7%), high risk result on triple test (21.3%), previous child with trisomy 21 (21.3%) and abnormalities seen on ultrasound (11.1%). Molecular studies were mostly for thalassemia (843, 24.3%), Duchenne muscular dystrophy (443, 12.5%), fragile X syndrome (367, 10.3%), spinal muscular atrophy (315, 8.9%), thrombophilia profile (233, 6.6%), triplet repeat disorders-spinocerebellar ataxias, Huntington disease and Friedreich ataxia-162 (4.6%), cystic fibrosis 140 (3.9 %) and mitochondrial disorders 101 (2.9%). Other disorders for which molecular diagnosis was done were intrauterine infections by PCR on the amniotic fluid, Prader Willi / Angelman syndromes, hemophilia, achondroplasia, congenital adrenal hyperplasia, and Apert syndrome etc. In biochemical studies triple marker tests were the most common (3239), followed by aminoacid chromatography (774). Among neurolipidosis metachromatic leukodystrophy was the commonest, followed by Krabbe’s disease, Tay Sach disease and Gaucher disease. Of the mucopolysacharidoses Hurler syndrome was the commonest, followed by Hunter syndrome. These data are compared with previous studies and a change towards increased prenatal diagnostic tests is observed. The commonest indication for amniocentesis has changed to advanced maternal age.Conclusion : Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India.     

Central diabetes insipidus in neonate born at 24 weeks of pregnancy – Case report and review of literature

Background

Central diabetes insipidus is a condition associated with the dysfunction of hypothalamic-pituitary axis and, consequently impaired synthesis and secretion of vasopressin. This condition is rarely found in preterm neonates which is why we decided to report it. Also, there are no guidelines on how to treat this condition in neonates, so it is important to share our experience and provide information on the therapies we used therapies and their results.

Quantification of the iduronate-2-sulfatase activity in prenatal diagnosis of mucopolysaccharidosis type n北大核心CSCD

Objective To evaluate the activity of iduronate-2-sulfatase (IDS) in fetal villi and peripheral blood plasma of pregnant women at high risk of mucopolysaccharidosis type II (M P S II), a n d to discuss t h e application of gene analysis in prenatal diagnosis of MPS II. M e t h o d s The enzymatic testing and gene analysis results of 23 pregnant women at high risk of MPS II, who underwent prenatal diagnosis in Guangzhou Women and C h i l d r e n ' s Medical Center from February 2013 to December 2 0 2 0, w e r e analyzed retrospectively. The IDS activity in fetal villi (3 0 c a s e s) and plasma (2 8 c a s e s) was detected by artificial substrate fluorescence. The IDS activity in fetal villi (2 8 c a s e s) and plasma (3 4 c a s e s) of normal pregnant women was taken as control. M e a n w h i l e, the fetal villi of both pregnant women at high risk of MPS II and normal pregnant women were also analyzed by gene testing and for fetal sex identification. Data were compared between groups by t h e i n d e p e n d e n t samples t test. R e s u l t s The normal reference values of the IDS activity in fetal villi and plasma of normal pregnant women w e r e (7 1 . 2 ± 2 3 . 4) n m o l / (m g • 4 h) and (6 1 1 . 1 ± 1 1 4 . 5) n m o l / (m L * 4 h), respectively. Among the 30 cases of high-risk fetal v i l l i, the IDS activity in fetal villi of 8 affected male fetuses was (1 . 7 ± 0 . 3) n m o l / (mg • 4 h), which was significantly lower than that of 11 unaffected male fetuses (8 3 . 2 ± 6. 3) n m o l / (m g - 4 h) and that of 9 n o n - c a r r i e r female fetuses (8 0 . 0 ± 7. 5) n m o l / (m g - 4 h) (t = 10. 8, 8. 8; all P < 0. 0 1) . M e a n w h i l e, t h e IDS activity was m e a s u r e d in t h e m a t e r n a l p e r i p h e r a l p l a s m a of 28 p r e g n a n t women at high risk of MPS II • Among t h e m, t h e IDS activity in 8 affected male fetuses w a s (2 2 5 . 4 ± 2 0 . 5) n m o l / (m L • 4 h), w h i c h was significantly lower t h a n that in non-affected male fetuses[ (4 5 1 . 0 ± 1 5. 1) n m o l / (mL • 4 h) ] and that in n o n - c a r r i e r female fetuses[ (4 6 7 . 7 ± 4 5 . 3) n m o l / (m L • 4 h) ]. Eight known pathogenic mutations were found i n 3 0 c a s e s a t high risk of MPS II of fetal v i l l i, a n d the mutation types were c. 1048A > C, c. 2 1 2 G > A, c. 5 1 4 C > T, c. 2 5 7 C > T, C. 4 2 5 C > T, a n d C. 9 9 8 C > T . O f t h e 8 c a s e s, 6 affected male fetuses h a d significantly r e d u c e d IDS a c t i v i t i e s, and the other 2 female carriers had normal IDS enzyme activities. Conclusions The IDS activity in fetal villi and peripheral plasma of pregnant woman is consistent with the gene analysis results. The IDS activity has an important reference value for the prenatal diagnosis of MPS II in the first trimester. When no genetic mutations are found in the probands or the pathogenicity of the new mutation remains unclear,the IDS activity in fetal villi can be detected separately for the prenatal diagnosis of MPS H © 2019 Chinese Journal of Experimental Traditional Medical Formulae. All rights reserved.     

Progress in the diagnosis,treatment and pathogenesis of argininemia北大核心CSCD

精氨酸血症是一种罕见的常染色体隐性遗传病,临床症状复杂多样,其病理机制尚未完全清楚,能量代谢障碍导致的神经元和少突胶质细胞损伤可能是其神经症状的原因。限制蛋白饮食、服用除氮药物等方式是治疗精氨酸血症的基本措施,但并不能完全阻止疾病的进展,酶替代或基因治疗是精氨酸血症的理想方案。基因编辑治疗尚未用于患者,肝移植是目前治疗精氨酸血症的有效手段。虽然肝移植并不能修复患者的基因缺陷,但可以补充精氨酸酶Ⅰ,使血浆精氨酸及其代谢产物降至正常,预防进行性损伤,缓解神经系统症状,提高生活质量。精氨酸血症发病率相对较低,人们对此尚缺乏完整认知。现就精氨酸血症的临床特点、发病机制、诊断及治疗进行综述,以期让更多人对精氨酸血症深入了解。     

Gastroschisis and exomphalos in Ireland 1998–2004. Does antenatal diagnosis impact on outcome?

Antenatal detection of anterior abdominal wall defects (gastroschisis and exomphalos) enables detailed prenatal planning and counselling with appropriate intrauterine transfer, delivery in a tertiary referral centre with prompt access to paediatric surgery and early surgical intervention. The authors believed that there was a relatively low rate of antenatal detection in Ireland and that an improved antenatal screening program would allow increased detection thus avoiding emergency retrievals from peripheral obstetric centres. Our hypothesis was that there was a significant difference in management and outcome in children with anterior abdominal wall defects detected antenatally and those detected at birth. All anterior abdominal wall defects in The Republic of Ireland are assessed and closed in two surgical centres, Our Lady’s Hospital for Sick Children, and the Children’s University Hospital, Dublin. A retrospective review of all admissions in both centres revealed 96 neonates with anterior wall defects (excluding bladder exstrophy and cloaca) over a 7 year period from 1998 to 2004 inclusive. Medical records, operative reports, neonatal databases and admission details were reviewed. The antenatal data search included anomaly detection, prenatal management plan and intrauterine transfer. Perinatal data included place of birth, weight, gestational age, mode of delivery, time to surgery and type of surgery, the time to establish full enteral feeding and the length of hospital stay were used as overall markers of outcome. Fifty-three patients had gastroschisis and 43 exomphalos with an antenatal detection rate of 53% (n = 28) and 34% (n = 15), respectively, with an overall detection rate of 44%. There was no significant difference in the median birth weight (2.83 vs. 2.85 kg), gestational age at birth (37 vs. 37 weeks), time to full feeding (12 vs.14 days) and length of stay (20 vs. 17 days) between those detected antenatally or postnatally, respectively. About 77 had a primary closure performed of which 63 infants had surgery within the first 24 h of life. There was no difference in the time to surgery, frequency of complications or the surgical outcome in either group. Intrauterine transfer did not affect any outcome measure assessed. The demographics and the presence of associated anomalies did not differ between the groups. The hypothesis that antenatal diagnosis in anterior abdominal wall defects improves outcome has been demonstrated to be false. Despite this result, the importance of antenatal screening and prenatal management of complex foetal conditions with consultation with experienced paediatric and neonatal staff is without doubt.