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Prenatal diagnosis

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https://www.readbyqxmd.com/read/27914249/fewer-self-reported-depressive-symptoms-in-young-adults-exposed-to-maternal-depressed-mood-during-pregnancy
#1
Katrin Zohsel, Nathalie E Holz, Erika Hohm, Martin H Schmidt, Günter Esser, Daniel Brandeis, Tobias Banaschewski, Manfred Laucht
BACKGROUND: Depressed mood is prevalent during pregnancy, with accumulating evidence suggesting an impact on developmental outcome in the offspring. However, the long-term effects of prenatal maternal depression regarding internalizing psychopathology in the offspring are as yet unclear. METHODS: As part of an ongoing epidemiological cohort study, prenatal maternal depressed mood was assessed at the child's age of 3 months. In a sample of n=307 offspring, depressive symptoms were obtained via questionnaire at the ages of 19, 22, 23 and 25 years...
October 11, 2016: Journal of Affective Disorders
https://www.readbyqxmd.com/read/27913546/diagnosing-von-willebrand-disease-genetic-analysis
#2
Anne Goodeve
Investigation of a patient with possible von Willebrand disease (VWD) includes a range of phenotypic analyses. Often, this is sufficient to discern disease type, and this will suggest relevant treatment. However, for some patients, phenotypic analysis does not sufficiently explain the patient's disorder, and for this group, genetic analysis can aid diagnosis of disease type. Polymerase chain reaction and Sanger sequencing have been mainstays of genetic analysis for several years. More recently, next-generation sequencing has become available, with the advantage that several genes can be simultaneously analyzed where necessary, eg, for discrimination of possible type 2N VWD or mild hemophilia A...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909773/magnetic-resonance-imaging-of-fetal-pelvic-cysts
#3
REVIEW
Styliani Archontaki, Yvan Vial, Sylviane Hanquinet, Reto Meuli, Leonor Alamo
The detection of fetal anomalies has improved in the last years as a result of the generalization of ultrasound pregnancy screening exams. The presence of a cystic imaging in the fetal pelvis is a relatively common finding, which can correspond to a real congenital cystic lesion or result from the anomalous liquid accumulation in a whole pelvic organ, mainly the urinary bladder, the uterus, or the vagina. In selected cases with poor prognosis and/or inconclusive echographic findings, magnetic resonance may bring additional information in terms of the characterization, anatomical location, and real extension of the pathology...
December 1, 2016: Abdominal Radiology
https://www.readbyqxmd.com/read/27909566/prenatal-diagnosis-of-a-terminal-chromosome-1-q42-q44-deletion-original-case-report-and-review-of-the-literature
#4
C Van Linthout, V Emonard, J S Gatot, X Capelle, F Kridelka, P Emonts, M C Segghaye
Terminal chromosome 1q deletion is rarely reported but causes typical malformations that have been well described in childhood. Clinical features include facial dysmorphy, growth and/or psychomotor retardation, brain agenesis or hypoplasia of the corpus callosum, epilepsy and occasional urogenital or cardiac malformations. The diagnosis of this condition is usually made at birth. The rare cases of antenatal diagnosis were based on microcephaly and growth retardation. In the present case, the foetus presented with an hypoplasia of the corpus callosum, a dysmorphic profile and a single umbilical artery...
June 27, 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/27908601/corrigendum-to-a-pregnancy-with-discordant-fetal-and-placental-chromosome-18-aneuploidies-revealed-by-invasive-and-noninvasive-prenatal-diagnosis-reproductive-biomedicine-online-29-2014-136-139
#5
Chong Chen, David S Cram, Fanni Xie, Ping Wang, Xueqin Xu, Huanzheng Li, Zhuo Song, Di Chen, Jianguang Zhang, Shaohua Tang
No abstract text is available yet for this article.
November 28, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#6
Myrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, Scott M Nelson, Jill P Pell
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time...
2016: PloS One
https://www.readbyqxmd.com/read/27906067/aspartylglycosaminuria-a-review
#7
REVIEW
Maria Arvio, Ilkka Mononen
Aspartylglucosaminuria (AGU), a recessively inherited lysosomal storage disease, is the most common disorder of glycoprotein degradation with a high prevalence in the Finnish population. It is a lifelong condition affecting on the patient's appearance, cognition, adaptive skills, physical growth, personality, body structure, and health. An infantile growth spurt and development of macrocephalia associated to hernias and respiratory infections are the key signs to an early identification of AGU. Progressive intellectual and physical disability is the main symptom leading to death usually before the age of 50 years...
December 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27905021/netherton-syndrome-a-genotype-phenotype-review
#8
REVIEW
Constantina A Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families...
November 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27904917/evaluating-skeletal-dysplasias-on-prenatal-ultrasound-an-emphasis-on-predicting-lethality
#9
REVIEW
Kathryn S Milks, Lyndon M Hill, Keyanoosh Hosseinzadeh
Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis...
December 1, 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27899401/neonatal-and-childhood-neurodevelopmental-health-and-educational-outcomes-of-children-exposed-to-antidepressants-and-maternal-depression-during-pregnancy-protocol-for-a-retrospective-population-based-cohort-study-using-linked-administrative-data
#10
Deepa Singal, Marni Brownell, Dan Chateau, Chelsea Ruth, Laurence Y Katz
INTRODUCTION: Antidepressants are commonly prescribed during pregnancy; however, there are inconsistent data on the safety of these medications during the prenatal period. To address this gap, this study will investigate short-term and long-term neurodevelopmental, physical and mental health, and educational outcomes of children who have been exposed to selective serotonin reuptake inhibitors (SSRIs) or selective serotonin norepinephrine reuptake inhibitors (SNRIs) and/or maternal depression during pregnancy...
November 29, 2016: BMJ Open
https://www.readbyqxmd.com/read/27896286/aneuploidy-screening-using-circulating-fetal-cells-in-maternal-blood-by-dual-probe-fish-protocol-a-prospective-feasibility-study-on-a-series-of-172-pregnant-women
#11
Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar
BACKGROUND: A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27896260/a-case-of-prenatally-diagnosed-extrapulmonary-arteriovenous-malformation-associated-with-a-complex-heart-defect
#12
Ba-Da Jeong, Hye-Sung Won, Suah An, Ji Yeon Kim, Mi-Young Lee, Eun Na Kim, Jung-Sun Kim, Chong Jai Kim
Pulmonary arteriovenous malformations are rare vascular anomalies of the lung, only a few cases of which have been diagnosed prenatally. The diagnostic clue for prenatal diagnosis was cardiomegaly with a particularly enlarged left atrium. All previous cases of pulmonary arteriovenous malformations diagnosed prenatally have been reported as an isolated anomaly or in association with simple heart defects. We here describe the first case of a pulmonary arteriovenous malformation with a complex heart defect that was diagnosed prenatally at 21...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27896259/prenatal-diagnosis-of-spontaneous-twin-anemia-polycythemia-sequence-and-postnatal-examination-of-placental-vascular-anastomoses
#13
Jin Young Bae, Jin Ju Oh, Seong Yeon Hong
Twin anemia-polycythemia sequence (TAPS) is characterized by a wide discrepancy of hemoglobin between two monochorionic fetuses without sign of twin oligo-polyhydramnios sequence. A primiparous woman with monochorionic diamniotic twin transferred for preterm labor. Ultrasonographic evaluation at 32+3 weeks of gestation revealed increased middle cerebral artery-peak systolic velocity (77.4 cm/sec, 1.69 multiples of median) in donor and decreased in recipient twin (36.4 cm/sec, 0.79 multiples of median), the twin was diagnosed with TAPS...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27896258/secondary-abdominal-pregnancy-in-human-immunodeficiency-virus-positive-woman
#14
Myoung Chan Kim, Hudson Manyanga, Flora Lwakatare
We report on an abdominal pregnancy in human immunodeficiency virus-positive mother, currently on antiretroviral therapy, which was discovered incidentally while training the obstetric ultrasound capacity building program. Although abdominal pregnancy is a rare form of ectopic pregnancy, it may be more common in women with HIV infection because they tend to have a higher rate of sexually transmitted diseases than the general population. The positive diagnosis of abdominal pregnancy is difficult to establish and is usually missed during prenatal assessment particularly in settings that lack routine ultrasound examination as is the case in most developing countries...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#15
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27896165/jejunal-windsock-deformity-a-rare-cause-of-incomplete-neonatal-intestinal-obstruction
#16
Vijai Datta Upadhyaya, Basant Kumar, Amrit Gupta, Kirti Naranje, Anita Singh
Incomplete intestinal obstruction due to windsock web of the jejunum is uncommonly noticed in neonates. We present a male neonate, prenatally suspected case of proximal bowel obstruction, who was found to have features of incomplete intestinal obstruction due to windsock deformity in jejunum. The difficulty in the diagnosis and management is discussed along with relevant literature review.
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27894621/glomerulocystic-kidney-presenting-as-a-unilateral-kidney-mass-in-a-newborn-with-tuberous-sclerosis-report-of-a-case-and-review-of-the-literature
#17
Miguel Rito, Rafael Adame Cabrera
Glomerular cysts are defined as a 2-3 times dilation of Bowman spaces and their presence in at least 5% of the glomeruli defines the kidneys as glomerulocystic (GCK). The association between cystic kidney disease and the tuberous sclerosis complex (TSC) is well known, but its presentation as a unilateral mass with glomerulocystic pattern is rare. We describe a case of an infant with a prenatal diagnosis of TSC, with a renal mass that was believed to be a renal tumor. A four-month-old infant with maternal history of TSC and prenatally diagnosed subependymal nodules and a right renal mass underwent nephrectomy...
November 18, 2016: Pathology, Research and Practice
https://www.readbyqxmd.com/read/27894129/isolated-fetal-ascites-neonatal-outcome-in-51-cases-observed-in-a-tertiary-referral-center
#18
Vincenzo Davide Catania, Alessia Muru, Marcella Pellegrino, Erika Adalgisa De Marco, Filomena Valentina Paradiso, Carlo Manzoni, Lorenzo Nanni, Lucia Masini
Introduction Prenatal detection of isolated ascites is a rare finding on ultrasound, usually suggestive of an underlying pathology that may negatively impact on the pregnancy and neonatal outcome. The purpose of the present study was to evaluate the outcome of primary isolated ascites in relation to gestational age (GA) at diagnosis. Materials and Methods Data were prospectively collected for fetuses with ascites that have been followed in our center of prenatal diagnosis and therapy from 2004 to 2014. Patients have been divided in group I when ascites was detected before the 24th week of GA and group II if it was noticed later...
November 28, 2016: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27893083/cohesive-referencing-errors-during-narrative-production-as-clinical-evidence-of-central-nervous-system-abnormality-in-school-aged-children-with-fetal-alcohol-spectrum-disorders
#19
John C Thorne, Truman E Coggins
Purpose: Previous evidence suggests that cohesive referencing errors made during narratives may be a behavior that is revealing of underlying central nervous system abnormality in children with fetal alcohol spectrum disorders (FASD). The current research extends this evidence. Method: Retrospective analysis of narrative and clinical data from 152 children (ages 6 to 14), 72 of whom had confirmed FASD, was used. Narrative analysis was conducted blind to diagnostic status, age, or gender...
November 1, 2016: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/27892741/impact-of-prenatal-diagnosis-of-transposition-of-the-great-arteries-on-postnatal-outcome
#20
P Domínguez-Manzano, I Herraiz, A Mendoza, J M Aguilar, D Escribano, B Toral, E Gómez-Montes, A Galindo
OBJECTIVE: To assess the impact of prenatal diagnosis of transposition of the great arteries (TGA) on postnatal outcome. METHODS: 154 patients with either simple (n = 101) or complex forms (n = 53) of TGA, diagnosed prenatally (G1, n = 88) or postnatally (G2, n = 66), who were admitted and underwent surgical correction in our centre between 1998 and 2014, were analysed. RESULTS: Prostaglandin E1 (PgE1) infusion and balloon atrial septostomy (BAS) were performed in the first 48 hours after birth more commonly in G1...
November 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
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