Antenatal Diagnosis (antenatal + diagnosis)

Distribution by Scientific Domains
Distribution within Medical Sciences


Selected Abstracts


Antenatal diagnosis of a Morgagni hernia in the second trimester

JOURNAL OF CLINICAL ULTRASOUND, Issue 2 2008
Krishan Kumar Jain MD
Abstract Morgagni hernia is an uncommon type of congenital hernia that is rarely diagnosed antenatally. Herniation of the liver into the fluid-filled pericardial sac resulting in a thoracic mass is a particularly rare form of Morgagni hernia; only 3 cases have been reported in the literature, all with a diagnosis made at 32 weeks' gestation or later. We report a case of Morgagni hernia diagnosed on antenatal sonography at 24 weeks' gestation. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008 [source]


Maternal antecedents for cerebral palsy in extremely preterm babies: a case-control study

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 9 2001
Peter H Gray MD FRCPI FRACP FRCPCH
The study aimed to identify significant antenatal risk factors for cerebral palsy (CP) among extremely preterm infants with a matched case-control design. Infants born between 1989 and 1996 at 24 to 27 weeks'gestation who survived to hospital discharge were evaluated: 30 with a proven diagnosis of CP at 2 years corrected for prematurity and 120 control children matched for gestational age without CP. Information on maternal obstetric risk factors and medication was obtained. Matched analyses were performed and odds ratios (OR) and 95% confidence intervals (CI) were calculated. An antenatal diagnosis of intrauterine growth restriction was associated with an increased risk of CP (OR 6.6; 95% CI 1.8 to 25.2), while maternal administration of corticosteroids was associated with a reduced risk of CP (OR 0.4; 95% CI 0.1 to 0.98). A high rate of placental histopathology was achieved but no relation between clinical or histological chorioamnionitis or funisitis and CP was demonstrated. Maternal preeclampsia was not associated with a statistically significant reduction in the risk of CP. It is concluded that a reduced risk of CP in extremely preterm infants is associated with the antenatal use of corticosteroids. [source]


Simple Repair of Aortico-Left Ventricular Tunnel in a Newborn with Early Prenatal Diagnosis

JOURNAL OF CARDIAC SURGERY, Issue 4 2008
Roland Henaine M.D.
Early recognition of ALVT by antenatal ultrasound allows prompt neonatal management and avoidance of harmful aortic valve regurgitation. The present case is unique because of the conjunction of very early antenatal diagnosis, prompt postnatal management, early surgical repair on the sixth day of life, direct closure from the aorta of the aortic orifice only, and optimal postoperative course with excellent mid-term result. [source]


Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 3 2005
S. NAIR
Summary.,Background:,Glanzmann thrombasthenia (GT) results from a quantitative or qualitative defect of GPIIb,IIIa complex, the fibrinogen receptor on platelets, which plays a very important role in platelet aggregation. In this report we describe the molecular studies on 22 patients with Glanzmann Thrombasthenia at our institute. Objectives:,The main objective was to identify the mutations present in our GT population in order to establish a strategy for genetic counseling and antenatal diagnosis. Methods:,Twenty-two patients with GT were included in the present study. Complete blood count (CBC), platelet aggregation, flow cytometry, Western blot, single strand conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE) were performed in all the patients. The patients showing an abnormal migration pattern in SSCP or DGGE were sequenced further on an automated sequencer. Results:,Of the 22 patients studied, mutations were detected in 12 individuals. Of these, 11 were novel mutations and one mutation Y115C was reported earlier. Flow cytometric analysis showed the absence of receptors in type I GT, highly reduced levels in type II GT and normal levels in type III GT. The DGGE analysis and SSCP analysis of the patients showed different migration patterns. Sequencing was performed in all patients showing an abnormal migration pattern. Of the 22 cases studied mutations could be detected in 12 cases of GT. We could detect six patients with point mutations, four patients with insertions and five patients with deletion mutations. Exon 4 has been found to be the most common site for mutations in our patients. Conclusion:,This study has shown a wide array of mutations present in our GT patients which would be extremely useful in genetic counseling and prenatal diagnosis, essential in preventing these disorders in succeeding generations. [source]


Patent ductus arteriosus flow patterns in the treatment of congenital diaphragmatic hernia

PEDIATRICS INTERNATIONAL, Issue 4 2009
Shinya Okamoto
Abstract Background:, Congenital diaphragmatic hernia (CDH) mortality still remains high, due to lung hypoplasia and persistent pulmonary hypertension of the neonate (PPHN). Effective management of PPHN and time of operation are quite important to the improvement of CDH treatment. In order to determine the optimal time for operation, we monitored PPHN with cardiac ultrasound. Methods:, PPHN was assessed with three parameters: patent ductus arteriosus flow patterns (PDAFP), %left ventricular diameter at diastole, and left ventricular fraction of shortening (LVFS). Four patients with an antenatal diagnosis were treated under this protocol. Diaphragm repair was performed when PDAFP became left to right shunt dominant and the pre- and postoperative course was analyzed with regular chart reviews. Results:, The alveolar-arterial oxygen difference levels of four patients were 590, 335, 613 and 530 mmHg, and operations were carried out when the patients were 2, 2, 3 and 2 days old, respectively. In three of the four patients (all except case 3) the PDAFP changed from right to left shunt dominant or bidirectional (BD), to left to right shunt dominant within 48 h. The %left ventricular diameter at diastole was relatively stable around the time of operation. The LVFS of all patients decreased after the operation. Only the LVFS of case 3 decreased temporarily to less than 30% (which indicates poor left ventricular function) but recovered. No patients needed extracorporeal membrane oxygenation support. All patients survived the procedure and were extubated. Case 3, who took 10 days to become left to right shunt dominant after the operation, needed home oxygenation therapy for 10 months. Conclusions:, PDAFP was a reliable marker of PPHN on a high-frequency oscillatory ventilator to determine the optimal time for the operation for CDH. The optimal time for operation is supposed to be the time when PDAFP become left to right shunt dominant. [source]


Birth at hospitals with co-located paediatric units for infants with correctable birth defects

AUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 3 2008
Charles S. ALGERT
Objectives: To determine the percentage of liveborn infants with selected antenatally identifiable and correctable birth defects who were delivered at hospitals with co-located paediatric surgical units (co-located hospitals). Additionally, to determine the survival rates for these infants. Patients and methods: Data were from linked New South Wales hospital discharge records from 2001 to 2004. Livebirths with one of the selected defects were included if they underwent an appropriate surgical repair, or died during the first year of life. Infants with multiple lethal birth defects were excluded. Deliveries at co-located hospitals were identified, but no data on antenatal diagnosis were available. Results: The study identified 287 eligible livebirths with the selected defects. The highest rates of delivery at co-located hospitals were for gastroschisis (88%), exomphalos (71%), spina bifida (63%) and diaphragmatic hernia (61%), and the lowest for transposition of the great arteries (43%) and oesophageal atresia (40%). Mothers resident outside of metropolitan areas, where the co-located hospitals are located, had a similar rate of delivery at co-located hospitals as metropolitan women. For the non-metropolitan mothers of infants with a birth defect, this represented a 30-fold increase over the baseline delivery rate of 1.8%. Post-surgery survival rates were 87% or higher. Overall survival rates were , 86% except for infants with a diaphragmatic hernia. Conclusions: Delivery rates at co-located hospitals were high for mothers of infants with these correctable birth defects. Regionalised health care appears to work well for these pregnancies, as women living outside metropolitan areas had a similar rate of delivery at co-located hospitals to that of urban women. [source]


The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 9 2008
M Blyth
Objective, To describe the sensitivity of fetal anomaly scanning at detecting transposition of the great arteries (TGA) and to investigate whether prenatal detection improves survival. Design, Retrospective review of survival by comparing those who had an antenatal diagnosis with those who did not. Setting, Population-based study in Wessex region over 13 years. Population, Babies with isolated TGA and an intact ventricular septum. Methods, Review of outcomes by comparing those who had an antenatal diagnosis with those who did not. Main outcome measures, Mortality rates in each group. Results, TGA occurred more commonly in boys than in girls. Using the existing national screening policy, the antenatal detection rate of TGA was only 6.9% over the study period, improving to 25% in the last 4 years. This contrasts with a 40% detection rate when TGA was associated with a ventricular septal defect (VSD). All the babies who had TGA diagnosed antenatally survived through surgery. Of those who were not diagnosed antenatally, two were stillborn, five died before the diagnosis was made and four died after surgery. Although the difference in survival rates between those who were antenatally diagnosed and those who were not is not statistically significant (,2= 3.9; P = 0.11), some of these deaths could have been prevented if a prenatal diagnosis had been made. Conclusions, Improved antenatal diagnosis could lead to a significant reduction in the mortality associated with TGA. The current low detection rate of TGA in the UK could be improved by the inclusion of outflow tract views in routine fetal anomaly scans, and we believe that the extra workload is justified. [source]


Monoamniotic twin pregnancies: antenatal management and perinatal results of 19 consecutive cases

BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 1 2004
Fabien Demaria
Objective To describe the obstetric management and perinatal outcome of antenatally diagnosed monoamniotic twin pregnancies (MATP) in a tertiary level maternity unit. Setting Port-Royal Maternity Hospital, Paris, France. Population MATP that progressed beyond 22 weeks seen from 1993 to 2001. Methods A retrospective chart review of all twin pregnancies. Diagnosis of MATP was made by ultrasonography and confirmed by placental pathology. Main outcome measure Perinatal mortality. Results Among the 1242 twins pregnancies delivered during the study period, 19 were monoamniotic. Four fetuses (10% of all births) had malformations. Perinatal mortality was high (n= 12, 32%) because of fetal deaths (nine cases) and very preterm births (three neonatal deaths). No fetal deaths occurred after 29 weeks. Of the 15 women with at least one live fetus before labour, 6 gave birth by vaginal delivery (40%). No obstetric accidents occurred during vaginal deliveries. Conclusion Perinatal mortality of MATP is still very high, even with accurate, early antenatal diagnosis, intensified surveillance and delivery provided in a tertiary level hospital. The main causes of perinatal deaths are cord accidents in utero, congenital anomalies and very preterm births. [source]


Early high C-reactive protein in infants with open abdominal wall defects does not predict sepsis or adverse outcome

ACTA PAEDIATRICA, Issue 1 2010
G Ramadan
Abstract Aim:, To study CRP values and relate it to outcome in infants with antenatal diagnosis of gastroschisis, exomphalos and other surgical conditions. Methods:, Over five years, infants admitted to our neonatal unit with gastroschisis, exomphalos and other surgical diagnoses were identified. Serum CRP measurements in first 5 days were studied. Group one included 33 gastroschisis patients, group two, 18 exomphalos patients, and group three, 38 patients with other surgical diagnoses. Outcome measures included TPN days, time to full feeds and duration of hospitalization. Results:, Infants with gastroschisis were more premature (36.9 vs 38.1 weeks) with lower birth weights (2515 vs 3078 g), than infants with exomphalos. CRP values on admission in gastroschisis group were significantly higher than exomphalos and other diagnoses groups (33.7 ± 6.4 vs 8.8 ± 6.0 vs 5.7 ± 2.0, respectively, p < 0.05). All blood cultures were sterile. There was no relationship between high CRP and death or adverse outcome (TPN days, time to full feeds or duration of hospitalization) in the gastroschisis group. Conclusion:, Infants with gastroschisis exhibit high early CRP, which may not indicate sepsis or adverse outcome. This increase can complicate the assessment of these infants. Clinicians should be aware of this finding as it could inform management decisions in this group. [source]


Foetal and congenital talipes: interventions and outcome

ACTA PAEDIATRICA, Issue 5 2009
Ravi Swamy
Abstract Aim: Talipes is a congenital anomaly that can be corrected conservatively or surgically. Despite advances in management, a proportion of pregnancies still result in termination. We therefore aimed to establish the birth prevalence, interventions and outcome of talipes in our population. Methods: Cases with foetal talipes were identified from the ultrasound register at the James Cook University Hospital between 1990 and 2006. Infants with congenital talipes between 1998 and 2006 were identified from the physiotherapy database. Management details were obtained from case records. Results: A total of 46 cases with foetal talipes were identified among 75 933 pregnancies. Of the 34 live-born infants, 24 (70.5%) required surgery to correct the talipes. Congenital talipes was found in 69 infants, giving a birth prevalence of 2 per 1000 live births. Sixteen (72.7%) infants with an antenatal diagnosis required surgical correction. Infants with an antenatal diagnosis were at an increased risk of requiring surgery (relative risk [RR]= 1.6). Conclusion: Surgical management was required in more than two-thirds of babies with foetal talipes. Conservative management was successful in the majority of the babies without an antenatal diagnosis. Infants with an antenatal diagnosis are 1.6 times as likely to need surgical correction as infants without an antenatal diagnosis. [source]


Fetal hydrops in GM1 gangliosidosis: A case report

ACTA PAEDIATRICA, Issue 12 2005
Maria Teresa Sinelli
Abstract GM1 gangliosidosis is a rare disorder characterized by deficiency of the ,-galactosidase enzyme, with the resulting accumulation of glycolipids, oligosaccharides and especially GM1 ganglioside. It can be classified into three clinical types according to the time of onset: infantile, juvenile and adult form. We report a case of GM1 gangliosidosis presenting with fetal hydrops at 24 wk of gestation. The parents were consanguineous; the baby, born at 35 wk of gestation, was dysmorphic and presented severe generalized oedema. The most common cause of fetal hydrops was excluded. A lysosomal storage disease was suspected, and GM1 gangliosidosis was diagnosed. The child developed severe growth and mental retardation and died when she was 21 mo old. Conclusion: We suggest that the possible association between inborn errors of metabolism and antenatal ascites should be considered, in order to offer genetic counselling due to the high recurrence risk and the availability of early antenatal diagnosis. [source]