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Antenatal diagnosis

Annah Lane, Ling Lee, Donna Traves, Andreas Lee
INTRODUCTION: The antenatal diagnosis of open spina bifida (OSB), a neural tube defect, is predominantly made at the second trimester morphology scan by ultrasound detection of structural abnormalities resulting from the associated Chiari II malformation. Evidence has emerged suggesting that these structural abnormalities can be detected earlier, by examination of the posterior fossa as part of the first trimester nuchal translucency scan. In particular, absence of the intra-cranial translucency (IT) of the fourth ventricle has shown promise as a diagnostic marker of OSB, although the sensitivity and specificity of this finding varies widely in the literature...
October 21, 2016: Journal of Medical Imaging and Radiation Oncology
S El Batti, F Solla, J-L Clément, O Rosello, I Oborocianu, E Chau, V Rampal
BACKGROUND: The initial treatment of congenital idiopathic clubfoot (CIC) is nonoperative. Either the French physiotherapy method or the Ponseti casting method may be used. Whether either method is superior over the other remains unclear. However, the method used initially is not the only determinant of the final outcome. OBJECTIVE: The primary objective was to identify determinants of the final outcome as evaluated based on the need for surgical treatment and on the Ghanem-Seringe score...
October 17, 2016: Orthopaedics & Traumatology, Surgery & Research: OTSR
Antonella Giancotti, Valentina D'Ambrosio, Enrica Marchionni, Antonia Squarcella, Camilla Aliberti, Renato La Torre, Lucia Manganaro, Antonio Pizzuti
PURPOSE: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in FGFR1 and FGFR2 genes. Given its wide range of clinical expression and severity, early prenatal diagnosis is difficult and genetic counseling is desirable. We report a literature review of all prenatal diagnosis of PS and a case report, with a focused description of ultrasound findings. METHODS: After literature search, we selected 14 studies of antenatal diagnosis of PS. Prenatal ultrasound findings, outcome, maternal and obstetrical data and genetic tests were recorded and analyzed...
October 20, 2016: Journal of Maternal-fetal & Neonatal Medicine
Dawn S Hughes, Everett F Magann
The evaluation of amniotic fluid volume (AFV) is an established part of the antenatal surveillance of pregnancies at risk for an adverse pregnancy outcome. The two most commonly used ultrasound techniques to estimate AFV are the amniotic fluid index (AFI) and the single deepest pocket (SDP). Four studies have defined normal AFVs, and although their normal volumes have similarities, there are also differences primarily due to the statistical methodology used in each study. Dye-determined AFV correlates with ultrasound estimates for normal fluid volumes but correlates poorly for oligohydramnios and polyhydramnios...
September 16, 2016: Best Practice & Research. Clinical Obstetrics & Gynaecology
Arsenio Spinillo, Fausta Beneventi, Elena Locatelli, Vèronique Ramoni, Roberto Caporali, Claudia Alpini, Giulia Albonico, Chiara Cavagnoli, Carlomaurizio Montecucco
BACKGROUND: The burden of pregnancy complications associated with well defined, already established systemic rheumatic diseases preexisting pregnancy such as rheumatoid arthritis, systemic lupus erythematosus or scleroderma is well known. Systemic rheumatic diseases are characterized by a long natural history with few symptoms, an undifferentiated picture or a remitting course making difficult a timely diagnosis. It has been suggested that screening measures for these diseases could be useful but the impact of unrecognized systemic rheumatic disorders on pregnancy outcome is unknown...
October 18, 2016: BMC Pregnancy and Childbirth
Michael L Rigby
Major congenital or acquired heart disease in neonates presents with cyanosis, hypoxia, acute circulatory failure or cardiogenic shock. Antenatal diagnosis is made in up to 50% but heart disease is unanticipated in the remainder. The presence of significant heart disease in premature infants is also frequently not suspected at first; in general, whatever the underling cardiac anomaly, the clinical condition is worse, deteriorates more quickly and carries a poorer prognosis in premature and low birth weight infants...
October 13, 2016: Early Human Development
Sansnee Jirojwong, Suzanne Brownhill, Hannah G Dahlen, Maree Johnson, Virginia Schmied
Issue addressed: In many developed countries the rate of gestational diabetes mellitus (GDM) for Asian-born women is higher than other groups. Studies suggest that some women have limited knowledge of the disease and poor self-management leading to health problems for themselves and their baby. Few studies report the experience of GDM among Southeast Asian migrant women living in Australia and factors that influence their management of the disease. Methods: A qualitative interpretive design was used to explore Southeast Asian migrant women's experience and management of GDM...
October 13, 2016: Health Promotion Journal of Australia
Anastasia N Fotiadou, Michele Calleja, Rikin Hargunani, Richard Keen
The skeletal manifestations of osteogenesis imperfecta are investigated. The antenatal and postnatal diagnosis of the disease is briefly mentioned and the characteristic appearances of bone deformities are analyzed in detail. The distinctive bony manifestations of osteogenesis imperfecta are illustrated using typical examples. Finally, we comment on the differential diagnosis.
July 2016: Seminars in Musculoskeletal Radiology
Suzy Duckworth, Lucy C Chappell, Paul T Seed, Lucy Mackillop, Andrew H Shennan, Rachael Hunter
OBJECTIVE: To model the resource implications of placental growth factor (PlGF) testing in women with suspected pre-eclampsia prior to 35 weeks' gestation as part of a management algorithm, compared with current practice. METHODS: Data on resource use from 132 women with suspected pre-eclampsia prior to 35 weeks' gestation, enrolled in a prospective observational cohort study evaluating PlGF measurement within antenatal assessment units within two UK consultant-led maternity units was extracted by case note review...
2016: PloS One
Neslihan Karakurt, Nesrin Beşbaş, Ali Cansu Bozacı, Yelda Bilginer, Hasan Serkan Doğan, Serdar Tekgül
This study was performed to evaluate the role of postnatal ultrasonography (US) in predicting the final diagnosis and need of surgery of antenatal hydronephrosis patients. One hundred and twenty six renal units (RUs) of 76 patients with diagnosis of antenatal hydronephrosis (ANH) were studied. An early postnatal US no later than the first week of life was requested. Voiding cystourethrography (VCUG) and/or diuretic renogram (MAG3) was performed in children who had persistent or worsening hydronephrosis to make a certain diagnose of etiology...
November 2015: Turkish Journal of Pediatrics
G Sulis, S Gnanou, A Roggi, A Konseimbo, P F Giorgetti, F Castelli, A Matteelli
Tuberculosis (TB) is a leading cause of death among women of childbearing age, and may be responsible for severe complications during pregnancy. Between August 2014 and March 2015, we conducted a pilot project to promote active TB case finding in antenatal care (ANC) clinics in the Central Region of Burkina Faso. Our results show very limited TB diagnostic practices and possible severe underdiagnosis of TB at ANC clinics, despite adequate screening practices. Integration of training and supervision of TB diagnosis and treatment into ANC services is required...
October 2016: International Journal of Tuberculosis and Lung Disease
Hemanshoo Sudhir Thakkar, Jonathan Durell, Subhasis Chakraborty, Bianca-Lea Tingle, Arnwald Choi, Darren J Fowler, Steve J Gould, Lawrence Impey, Kokila Lakhoo
Congenital airway pulmonary malformations are increasingly being diagnosed, but their management continues to remain controversial. Our approach has been to offer surgery to mitigate the risk of infection and possible malignancy. All patients routinely undergo a CT scan of the chest postnatally and once the diagnosis is confirmed, minimal access surgery is offered. Our anesthetists provide single-lung ventilation to enhance the operative view. We conducted a retrospective review over a 10-year period, during which 91 patients were prenatally suspected to have a cystic lung lesion...
October 10, 2016: European Journal of Pediatric Surgery
Rory Windrim, John Kingdom, Hyun-Jung Jang, Peter N Burns
BACKGROUND: Morbidly adherent placentation now complicates approximately 1 in 500 pregnancies. Our group and others have demonstrated that antenatal diagnosis of invasive placentation and team-based delivery reduce severe morbidity. Ultrasound and magnetic resonance imaging (MRI) are both employed in the antenatal evaluation of pregnancies with suspected placenta increta/percreta. Accurate diagnosis in this context is essential to direct resources appropriately. Ultrasound methods, including colour and power Doppler, are the mainstays of screening at-risk women, whereas MRI is reserved for diagnostic purposes because of its cost and limited accessibility...
October 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Rehana A Salam, Rahat Najam Qureshi, Sana Sheikh, Asif Raza Khowaja, Diane Sawchuck, Marianne Vidler, Peter von Dadelszen, Shujaat Zaidi, Zulfiqar Bhutta
BACKGROUND: An estimated 276 Pakistani women die for every 100,000 live births; with eclampsia accounting for about 10 % of these deaths. Community health workers contribute to the existing health system in Pakistan under the banner of the Lady Health Worker (LHW) Programme and are responsible to provide a comprehensive package of antenatal services. However, there is a need to increase focus on early identification and prompt diagnosis of pre-eclampsia in community settings, since women with mild pre-eclampsia often present without symptoms...
September 30, 2016: Reproductive Health
Sonia Halioui-Louhaichi, Ons Azzabi, Nadia Mattoussi, Hasna Labiadh, Khadija Bousseta, Neji Tebib, Taher Gargah, Sayda Ben Becher, Mohamed Ridha Barbouch, Mohamed Bejaoui, Ahmed Maherzi
Background Primary immunodeficiencies (PID) are a group of heterogeneous and relatively rare diseases. Aim to determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients. Methods A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years (1991-2012). Resultats a masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases...
April 2016: La Tunisie Médicale
Mariya Angelova, Emil Kovachev, Veselina Tsankova, Iliana Koleva, Silvia Mangarova
AIM: The aim of this study was to assess the prevalence of chlamydial infection among pregnant women and to determine the role of this infection in the fetus. MATERIAL AND METHODS: In the first phase of this study were reported 58 pregnant women with a positive test for active chlamydial infection by applying immunofluorescence. In the second phase of the study were reported pregnant with premature burst membranes (PBM), postnatal complications associated with chlamydial infection as puerperal endometritis, and newborns are monitored for low birth weight and growth retardation at birth...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
Deborah Gilmour, Mark W Davies, Anthony R Herbert
AIM: End-of-life care remains part of the scope of practice in all neonatal units. This study aimed to characterise the end-of-life care provided in an Australian tertiary neonatal centre, where paediatric palliative care was accessible via a consultative service. METHODS: This retrospective cohort study examined indicators of quality palliative care provided to 46 infants born within a 30-month period. The cohort included four infants who received palliative care consultations additional to usual neonatal care...
October 4, 2016: Journal of Paediatrics and Child Health
Wei-Hsiu Chiu, Shy-Ming Lee, Tao-Hsin Tung, Xiao-Mei Tang, Ren-Shyan Liu, Ran-Chou Chen
Antenatal diagnosis of congenital heart disease (CHD) is still low even though screening was first introduced over 25 years ago. The purpose of our study was to determine the efficacy of a second-trimester prenatal ultrasonographic method of screening for CHD.From September 2012 to September 2013, the length and width of the fetal ductus venosus were measured sonographically in 1006 singleton fetuses, and the ratio of length to width was calculated. The accuracy of each fetal measurement and Doppler ultrasonography were determined...
September 2016: Medicine (Baltimore)
S Kukora, N Gollehon, G Weiner, N Laventhal
OBJECTIVE: Neonatologists provide antenatal counseling to support shared decision-making for complicated pregnancies. Poor or ambiguous prognostication can lead to inappropriate treatment and parental distress. We sought to evaluate the accuracy of antenatal prognosticaltion. STUDY DESIGN: A retrospective cohort was assembled from a prospectively populated database of all outpatient neonatology consultations. On the basis of the written consultation, fetuses were characterized by diagnosis groups (multiple anomalies or genetic disorders, single major anomaly and obstetric complications), assigned to five prognostic categories (I=survivable, IIA=uncertain but likely survivable, II=uncertain, IIB=uncertain but likely non-survivable, III non-survivable) and two final outcome categories (fetal demise/in-hospital neonatal death or survival to hospital discharge)...
September 29, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
Abhinav Aggarwal, Aakriti Kapoor Aggarwal, Aakaar Kapoor, Ravi Kapoor, Ashutosh Bansal
Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon congenital/pediatric disorder diagnosed only with the help of imaging. Clinical features associated with it are hemiparesis, seizures, facial asymmetry, and mental retardation. We here present a case of DDMS diagnosed antenatally at 29 weeks gestational age during routine antenatal ultrasound examination. The patient was further evaluated and followed using both ultrasound and magnetic resonance imaging during antenatal and postnatal periods. The infant had unilateral hemiatrophy with the absence of anterior and middle cerebral arteries...
September 28, 2016: Journal of Medical Ultrasonics
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