Abstract
We validated a pyrosequencing assay to measure methylation at KvDMR1 using blood samples from 13 BWS cases, 8 of which showed reduced methylation as compared to control blood. An imbalance between maternal and paternal genomes as is found in triploidy, CHM or PMD was also associated with altered KvD...
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PMID: 20507345
PDF is available here.
Abstract
Flow cytometry offers a promising alternative to the current methods of amniocentesis or chorionic villus sampling (CVS) for fetal cell sorting for prenatal diagnosis. While flow cytometric methods have been greatly improved to be more sensitive at detecting fetal cells within the maternal circulati...
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PMID: 20932840
PDF is available here.
Abstract
We need to develop an organized, national approach focused on reducing maternal mortality and morbidity. The goal will be to outline a specific plan for clinical, educational, and research initiatives to put the "M" back in maternal-fetal medicine....
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PMID: 21099610
PDF is available here.
Abstract
We report on the first known case of perinatal detection of gallstones in siblings.
© Thieme Medical Publishers....
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PMID: 20440667
PDF is available here.
Abstract
Fetal disorders (including congenital malformations) are among the most frequent of causes of intrauterine death. Assessment to detect fetal processes is straightforward: history (prenatal, perinatal, and family); external clinical examination; photographs; whole body radiographs; cytogenetic invest...
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PMID: 20661049
PDF is available here.
Abstract
These results indicate that WNV is efficiently transmitted by vertical routes (intrauterine and lactation) and after cannibal ingestion of infected animals.
Copyright 2010 Elsevier B.V. All rights reserved....
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PMID: 20438776
PDF is available here.
Abstract
The Fetal Welfare Obstetric emergency Neonatal resuscitation Training (FONT) project was initiated on a background of rising notifications of adverse events in NSW maternity units, the significant proportion of which were related to fetal welfare assessment. Aims: The aim of the study is to describe...
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PMID: 20716260
PDF is available here.
Abstract
We report the use of IVIG to prevent progression of 2:1 congenital heart block with intermittent complete heart block. After two maternal infusions of IVIG (0.4 g/kg) at 31 weeks of gestation, the fetal heart rate reverted to long periods of sinus rhythm, which was sustained until postnatal life.
Ou...
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PMID: 20664449
PDF is available here.
Abstract
We propose a classification system for antenatal and postnatal TAPS.
Copyright 2010 S. Karger AG, Basel....
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PMID: 20339296
PDF is available here.
Abstract
We report the first correlation of two cases between color Doppler and histologic study of fetal thyroid goiters.
Copyright 2010 S. Karger AG, Basel....
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PMID: 20516655
PDF is available here.
Abstract
A case of Okihiro syndrome (OS) detected by 2- and confirmed by 3-dimensional ultrasound at 13+2 gestational weeks is reported. While the pregnant woman affected by the OS presented with limb anomalies, the fetus showed severe thoracoabdominal and skeletal anomalies. Termination of pregnancy was per...
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PMID: 20160433
PDF is available here.
Abstract
Recognizing placental membrane hypoxic lesions increases the sensitivity of placental examination in diagnosing placental hypoxia by at least 15%. The risk of in utero hypoxia is increased when microscopic chorionic pseudocysts and laminar necrosis occur in conjunction with villous hypoxic lesions....
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PMID: 20586626
PDF is available here.
Abstract
Newborn screening for cystic fibrosis (CF) facilitates early diagnosis and genetic counselling for parents of affected infants. Many parents elect to use prenatal testing for subsequent pregnancies, and this may affect the prevalence of CF. The aim of this study was to assess the evi...
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PMID: 20551198
PDF is available here.
Abstract
Fetal diagnosis prompts the question for fetal therapy in highly selected cases. Some conditions are suitable for in utero surgical intervention. This paper reviews historically important steps in the development of fetal surgery. The first invasive fetal intervention in 1963 was an intra-uterine bl...
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PMID: 20572114
PDF is available here.
Abstract
Our findings support that the amount of maternal antibodies, rather than their presence, is associated with fetal tissue injury. As anti-Ro levels correlate with the risk of cardiac complications, serial echocardiography should be limited to women with high anti-Ro-titres.
Copyright (c) 2010 Americ...
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PMID: 20538173
PDF is available here.
Abstract
We present the case of an 18-year-old woman with her second pregnancy, whose first pregnancy was complicated by polyhydramnios. At week 30, the dysmorph fetus died in utero and was delivered via cesarean section due to placental abruption, but the exact diagnosis was not recognized at that time. Dur...
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PMID: 20519182
PDF is available here.
Abstract
Bronchopulmonary foregut malformations are a heterogeneous but interrelated group of abnormalities that may contain more than one histologic feature. Familiarity with the presentation and imaging features of bronchopulmonary foregut malformations presenting as a congenital mass or mass-like lesion i...
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PMID: 19821253
PDF is available here.
Abstract
We report two autopsy cases that revealed the partial absence of the septum pellucidum with ventriculomegaly. In each case, the brain showed mild dilatation of both frontal horns of the lateral ventricles, normal third and fourth ventricles and no aqueductal stenosis. The posterior portion of the se...
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PMID: 20514325
PDF is available here.
Abstract
The MRI could diagnose correctly 10 cases of hydronephrosis, one case of polycystic kidney disease (PCKD), one case of RA, two normal case and two cases of intra-abdominal masses (IA Mass) (16 of 18 cases). The prenatal ultrasound could diagnose correctly eight cases of hydronephrosis, one case of P...
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PMID: 20618240
PDF is available here.
Abstract
The perinatal ischemic stroke is defined as "a group of heterogenous conditions with a focal disruption of cerebral flow secondary to an arterial or a venous thrombosis or embolization between the 20 week of foetal life through the 28 post-natal day". Three subgroups are identified: arterial ischemi...
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PMID: 21089737
PDF is available here.
Abstract
TBC is a major infectious emergency in the world. OMS suggest that there are 8 millions of affected every year and 2 millions of deaths. Italy is considered a country with low prevalence, but the increase of the immigration from Africa Asia and Est Europa (country with high risk) imposes attention t...
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PMID: 21090072
PDF is available here.
Abstract
Foetal akinesia-hypokinesia deformation sequence (FADS) involves arthrogryposis, facial deformations, pulmonary hypoplasia, intrauterine growth retardation, polyhydramnios and short umbilical cord. FADS is caused by lack of foetal movements, most often due to neuromuscular diseases. FADS is associat...
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PMID: 20470657
PDF is available here.
Abstract
Mean verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ), and full intelligence quotient (FIQ) scores were within normal population range. High-average or average scores for VIQ, PIQ, FIQ, and processing speed were found in 93%, 90%, 90%, and 60%, respectively. Mean FIQ and p...
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PMID: 20347433
PDF is available here.
Abstract
A minimum of 12 fetal lung explants were cultured for each group. By 24 hours, all explants undergoing TO had more branch iterations than explants that did not. Moreover, TO in nitrofen-exposed explants increased bronchial branching to control levels by 24 hours in culture. CONCLUSION: Our results s...
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PMID: 20438932
PDF is available here.
Philip A May,
J Phillip Gossage,
Matthew Smith,
Barbara G Tabachnick,
Luther K Robinson,
Melanie Manning,
Mauro Cecanti,
Kenneth Lyons Jones,
Nathaniel Khaole,
David Buckley,
Wendy O Kalberg,
Phyllis M Trujillo and
H Eugene Hoyme
Abstract
Within the range of physical features used to identify children with fetal alcohol spectrum disorders, specifically FAS and PFAS, there is some significant variation in salient diagnostic features from one population to the next. Intraclass correlations in diagnostic features between these 3 populat...
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PMID: 20431397
PDF is available here.
Abstract
A case of ischemic gangrene of the right upper limb and hemiface noticed at birth is reported. It was a male baby born at term vaginally from a non diabetic mother. He was allowed in the surgical emergencies, 24 hours after the birth. The injuries were irreversible and required an arm amputation and...
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PMID: 20299267
PDF is available here.
Abstract
I review the history of the term with emphasis on the gradual understanding of the many causes of this reaction. I include a comprehensive list of diseases or other cardiac stresses that authors have reported in association, and I try to explain the mechanism of the reaction. Although endocardial fi...
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PMID: 20346203
PDF is available here.
Abstract
We present a case report of a pregnant woman with increased risk for trisomy 21 at first-trimester screening, assessed by ultrasonography, that was sent to our hospital. Amniocentesis was performed at 14 weeks and 2 days to obtain foetal karyotype that was normal (46,XX). At 19 weeks and 1 day, foet...
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PMID: 20307332
PDF is available here.
Abstract
3 cases of fetal megacystis have been described in the article. In each clinical situation the pathology was diagnosed in the first half of the pregnancy. The authors have attempted to present clinical management in congenital megacystis. Key elements in the further diagnostics of megacystis in a fe...
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PMID: 20476606
PDF is available here.
Abstract
One of the most significant benefits of translational research in dermatology has been the development of prenatal diagnosis for couples at risk of recurrence of severe inherited skin diseases. Indeed, over the last 30 years a greater understanding of the molecular basis of epidermolysis bullosa (EB...
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PMID: 20447485
PDF is available here.
Abstract
During pregnancy, the maternal, placental and fetal physiological characteristics constantly evolve and thereby constantly alter drug bioavailability in the mother and feto-placental unit. Gastric emptying time is increased and bowel movements are reduced. Distribution in the maternal body is mainly...
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PMID: 20347563
PDF is available here.
Abstract
The genodermatoses encompass a range of inheritable skin diseases that may be associated with significant mortality and long-term morbidity. In the past, options for prenatal diagnosis of these diseases were limited to fetal skin biopsy. As a result of recent leaps made in genetics and molecular bio...
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PMID: 20465686
PDF is available here.
Abstract
Tracheal widening and intermittent collapse of the posterior wall of the trachea during tidal breathing was found in 7 consecutive newborns who underwent fetoscopic balloon tracheal occlusion, causing mild clinical symptoms. Endoscopic tracheal assessment might provide useful information in children...
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PMID: 20385271
PDF is available here.
Abstract
to analyze the differential diagnosis, follow-up and therapeutic approach in five cases of primary cardiac tumors diagnosed during the prenatal period.
during the period from January 1997 to December 2008, 7989 pregnant women were submitted to morphological ultrasound due to the presence of risk fac...
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PMID: 20625683
PDF is available here.
Abstract
Umbilical cord prolapse (UCP) is an obstetric emergency. The objective of our study was to determine the frequency of cord prolapse, its aetiological factors and to evaluate fetal prognosis. This was a retrospective review of cord prolapse deliveries in the main two civil hospitals in North Jordan b...
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PMID: 20373926
PDF is available here.
Abstract
We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transitio...
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PMID: 19685344
PDF is available here.
Abstract
Intrauterine fracture is an extremely rare finding, but can occur as the result of maternal trauma, osteogenesis imperfecta (OI), or theoretically other metabolic/structural abnormalities. Increased clinical awareness of the diagnosis and optimal management of these cases can lead to more positive o...
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PMID: 20403216
PDF is available here.
Abstract
Recent advances in prenatal diagnosis have made fetal surgery as a possible treatment for a wide variety of fetal diseases. Fetal surgeries consist of minimally invasive fetal surgery such as ultrasound guided procedure and fetoscopic surgery, open fetal surgery, and ex-utero intrapartum treatment....
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PMID: 20229752
PDF is available here.
Abstract
Gestational diabetes mellitus (GDM) is a type of diabetes that presents during pregnancy and usually disappears shortly after a woman gives birth. Better recognition of the risk factors of GDM, combined with more universal screening for the disease in many countries, has led to the increased detecti...
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PMID: 20121460
PDF is available here.
Abstract
Modern, non-invasive prenatal diagnostics based on biochemical and ultrasonographic markers of fetal defects allows us to calculate the risk of fetal chromosomal aneuploidies with high sensitivity and specificity An introduction of biochemical, non-invasive prenatal tests turned out to result in fre...
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PMID: 20486544
PDF is available here.
Abstract
The objective of this study was to evaluate patterns of intrauterine growth in fetal gastroschisis. This was a retrospective review of prenatally diagnosed cases of fetal gastroschisis delivered at the University of North Carolina Hospital from January 2000 to January 2007. Fetal growth (biparietal...
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PMID: 19688673
PDF is available here.
Abstract
We report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gesta...
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PMID: 19634089
PDF is available here.
Abstract
We present the neonatal complications of two premature newborn infants whose placentas demonstrated placental thrombosis in the fetal circulation. Both mothers presented with a 3-day history of decreased fetal movements before delivery. The first infant presented with thrombocytopenia and disseminat...
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PMID: 19806531
PDF is available here.
Abstract
We hypothesized that recombinant human erythropoietin (rhEPO) would ameliorate brain damage in anovine model of fetal inflammation. At 107 +/- 1 day of gestational age (DGA), chronically catheterized fetal sheep received on 3 consecutive days 1) an intravenous bolus dose of lipopolysaccharide ([LPS]...
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PMID: 20142760
PDF is available here.
Abstract
Of the 80 infants studied, 35 had latent iron deficiency. After controlling for confounders, the infants with latent iron deficiency had significantly prolonged absolute wave latencies I, III, and V and decreased frequency of mature ABR waveforms compared with the infants with normal iron status. CO...
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PMID: 19939407
PDF is available here.