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fetal anomalies

Tomoyuki Hioki, Hiroyuki Takama, Sumiko Makita, Masashi Akiyama
Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by the absence of skin at birth, typically involving the midline of the scalp. This is the first case report to highlight the usefulness of precise ultrasonography for diagnosing mild ACC. A 1-month-old boy was referred to our hospital for assessment of a bald patch found at birth. He was born to nonconsanguineous parents in spontaneous vaginal delivery with a vacuum extractor because of fetal distress and anomaly of rotation at 40 weeks of gestation...
October 21, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
Carolin A Boecking, Eleanor A Drey, Jennifer L Kerns, Walter E Finkbeiner
CONTEXT: -Despite increased use of dilation and evacuation in the setting of fetuses with developmental anomalies, the pathology examination of fragmented specimens obtained by this technique has been understudied. OBJECTIVES: -To correlate pathologic findings in second-trimester fetal dilation and evacuation specimens with prenatal diagnoses established through ultrasound and/or chromosome studies to determine the value of pathology examination for supplementing or correcting clinical diagnoses...
October 20, 2016: Archives of Pathology & Laboratory Medicine
Kanika Gupta, Bhuvaneswari Venkatesan, Kiruba Shankar Manoharan, Vaithianathan Rajalakshmi, Maya Menon
Congenital high airway obstruction syndrome is a rare fetal anomaly with characteristic constellation of prenatal findings on ultrasound and MRI. The typical triad of imaging features are enlarged and echogenic lungs, flattening or inversion of diaphragm and fetal hydrops. Early prenatal recognition of congenital high airway obstruction syndrome by ultrasound and/or MRI is mandatory for the appropriate perinatal management. We report a case of a male fetus with typical imaging findings of congenital high airway obstruction syndrome on ultrasound and MRI at 19 weeks of gestation...
August 2016: Journal of Radiology Case Reports
Miyuki Nishiyama, Akihiko Sekizawa, Kohei Ogawa, Hideaki Sawai, Hiroaki Nakamura, Osamu Samura, Nobuhiro Suzumori, Setsuko Nakayama, Takahiro Yamada, Masaki Ogawa, Yukiko Katagiri, Jun Murotsuki, Yoko Okamoto, Akira Namba, Haruka Hamanoue, Masanobu Ogawa, Kiyonori Miura, Shunichiro Izumi, Yoshimasa Kamei, Haruhiko Sago
OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75...
October 19, 2016: Prenatal Diagnosis
Margaret Loyet, Amy McLean, Karen Graham, Cheryl Antoine, Kathy Fossick
BACKGROUND: Women carrying a fetus with a suspected or known fetal anomaly have complex needs such as emotional and informational support and help with the logistical aspects of arranging care and treatment from numerous specialists. IMPROVEMENT IN QUALITY OF CARE FOR WOMEN CARRYING A FETUS WITH A SUSPECTED OR KNOWN FETAL ANOMALY:: Our fetal care team was initiated in 2012 to meet the needs of this high-risk pregnant population. The fetal care team nurse coordinator supports the woman and her family through all aspects of care during the pregnancy and neonatal period including scheduling appointments with multiple specialists, being there with her as a support person, keeping her updated, making sure she has accurate information about the fetal diagnosis, and helping her to navigate the complex healthcare system...
November 2016: MCN. the American Journal of Maternal Child Nursing
Amos Grünebaum, Laurence B McCullough, Birgit Arabin, Joachim Dudenhausen, Brooke Orosz, Frank A Chervenak
INTRODUCTION: The objective of this study was to evaluate the underlying causes of neonatal mortality (NNM) in midwife-attended home births and compare them to hospital births attended by a midwife or a physician in the United States (US). METHODS: A retrospective cohort study of the Centers for Disease Control (CDC) linked birth/infant death data set (linked files) for 2008 through 2012 of singleton, term (≥37 weeks) births and normal newborn weights (≥2500 grams)...
October 18, 2016: Journal of Perinatal Medicine
Seneesh Kumar Vikraman, Vipin Chandra, Bijoy Balakrishnan, Sunil Jaiman, Meenu Batra, Gopinathan Kannoly
The anatomic causes for fetal right atrial dilatation with tricuspid regurgitation include Ebstein anomaly, tricuspid dysplasia, unguarded tricuspid orifice, and Uhl anomaly. Unguarded tricuspid orifice is characterized by complete or partial agenesis of the tricuspid valvular and subvalvular structures. It is commonly associated with pulmonary atresia. Its prenatal diagnosis is usually associated with unfavorable prognosis. We present a prenatally diagnosed case of fetal unguarded tricuspid orifice with description of its diagnostic workup, along with a review of literature, to enhance the understanding of this rarely reported entity...
October 18, 2016: Journal of Clinical Ultrasound: JCU
Masaki Ogawa, Yoshio Matsuda, Akihito Nakai, Masako Hayashi, Shoji Sato, Shigeki Matsubara
OBJECTIVES: Placental weight (PW) and fetal/placental weight ratio (F/P) have been considered to be useful parameters for understanding the pathophysiology of fetal growth. However, there have been no standard data on PW and F/P in Asian populations. This study was conducted to establish nomograms of PW and F/P in the Japanese population and to clarify characteristics of PW and F/P in this population. STUDY DESIGN: Included in the study were 79,590 Japanese cases: 58,871 vaginal and 20,719 cesarean deliveries at obstetrical facilities (2001-2002) and registered to the Japan Society of Obstetrics and Gynecology Database...
October 5, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
Niels B Matthiesen, Tine Henriksen, Peter Agergaard, William J Gaynor, Cathrine C Bach, Vibeke Hjortdal, John Ostergaard
BACKGROUND: -Congenital heart defects (CHD) have been associated with placental anomalies. The nature and the consequences of this association remain poorly understood. We aimed to estimate the associations between all major subtypes of CHD and placental weight at birth as well as the association between placental weight and measures of both overall and cerebral growth in fetuses with CHD. METHODS: -We included all 924,422 liveborn Danish singletons, 1997-2011. CHD was present in 7,569...
October 14, 2016: Circulation
Moshe Bronshtein, Zeev Blumenfeld, Asaad Choury, Ayala Gover
OBJECTIVES: To assess the natural history and outcome of fetal pulmonary stenosis [PS] detected at 14 to 16 weeks gestation. METHODS: This is a retrospective study, in the years 2004-2015, with serial follow up during pregnancy. Patients referred for complete early fetal ultrasound including all fetal systems and a fetal echocardiogram. Ninety seven percent of the women were low risk, and 3% had risk factors such as maternal type 1 diabetes mellitus, exposure to teratogenic drugs or anomalies in previous pregnancies or in other family members...
October 14, 2016: Ultrasound in Obstetrics & Gynecology
Bethany Stetson, Judith U Hibbard, Isabelle Wilkins, Heidi Leftwich
OBJECTIVE: To examine the differences in perinatal outcomes among women with a prior preterm birth who received cerclage compared with cerclage plus 17α-hydroxyprogesterone caproate. METHODS: Women with transvaginal cerclage placement and a prior delivery between 16 and 36 weeks of gestation were identified over a 10-year period (July 2002 to May 2012) in this retrospective cohort study. Exclusion criteria were delivery at another institution, abdominal cerclage, multiple gestations, and major fetal anomalies...
October 6, 2016: Obstetrics and Gynecology
Jeffrey R Wozniak, Bryon A Mueller, Sarah N Mattson, Claire D Coles, Julie A Kable, Kenneth L Jones, Christopher J Boys, Kelvin O Lim, Edward P Riley, Elizabeth R Sowell
: Consistent with well-documented structural and microstructural abnormalities in prenatal alcohol exposure (PAE), recent studies suggest that functional connectivity (FC) may also be disrupted. We evaluated whole-brain FC in a large multi-site sample, examined its cognitive correlates, and explored its potential to objectively identify neurodevelopmental abnormality in individuals without definitive dysmorphic features. Included were 75 children with PAE and 68 controls from four sites...
October 12, 2016: Brain Imaging and Behavior
Sepideh Sefidbakht, Sakineh Dehghani, Maryam Safari, Homeira Vafaei, Maryam Kasraeian
BACKGROUND: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society. OBJECTIVES: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. MATERIALS AND METHODS: One hundred and seven (107) pregnant women with suspicious fetal anomalies in prenatal ultrasound entered a cross-sectional retrospective study from 2011 to 2013...
August 2016: Iranian Journal of Pediatrics
Yi Wang, Yi Deng, Zhi Li, Xu Li, Chen-Yuan Zhang, Zhen Jin, Ming-Xia Fan, Michael T Compton, Eric F C Cheung, Kelvin O Lim, Raymond C K Chan
Minor physical anomalies (MPAs) are subtle signs of fetal developmental abnormalities that have been considered to be among the most replicated risk markers for schizophrenia-spectrum disorders. However, quantitative approaches are needed to measure craniofacial MPAs. The present study adopted an imaging-based quantitative approach to examine craniofacial MPAs across the spectrum of schizophrenia and affective disorders, to address their sensitivity and specificity. We sampled 31 patients with schizophrenia, 30 of their unaffected relatives, and 30 individuals with schizotypal personality traits, as well as 37 non-schizotypal controls...
October 8, 2016: PsyCh Journal
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Cenk Gezer, Atalay Ekin, Naciye Sinem Gezer, Ulas Solmaz, Mehmet Ozeren
BACKGROUND: Evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. OBJECTIVES: The aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. PATIENTS AND METHODS: This prospective study was conducted on 171 volunteer pregnant women between March 2013 and December 2014. Measurements of the fetal cerebellar vermis diameters in the sagittal plane were performed by two-dimensional transabdominal ultrasonography...
April 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
Mariya Angelova, Emil Kovachev, Nikolai Todorov
AIM: The aim of this publication is to present a case of CMV infection during pregnancy, with clinical manifestations of the development of microcephaly and simultaneous dilatation of the 3rd and 4th brain ventricle at 23 weeks gestation. This article discusses the role of ultrasound screening in the second trimester of pregnancy. CASE PRESENTATION: We present the case of a 25-year-old woman with the initials S.K. in her second pregnancy that came to our antenatal Consulting Centre...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
Walid Abi Habib, Frederic Brioude, Salah Azzi, Jennifer Salem, Cristina Das Neves, Claire Personnier, Sandra Chantot-Bastaraud, Boris Keren, Yves Le Bouc, Madeleine Harbison, Irene Netchine
The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal growth. Silver-Russell syndrome (SRS) is characterized by fetal and postnatal growth failure, and is caused principally by hypomethylation of the 11p15 imprinting control region 1 (ICR1). However, the mechanisms leading to ICR1 hypomethylation remain unknown. Maternally inherited genetic defects affecting the ICR1 domain have been associated with ICR1 hypermethylation and Beckwith-Wiedemann Syndrome (an overgrowth syndrome, the clinical and molecular mirror of SRS), and paternal deletions of IGF2 enhancers have been detected in four SRS patients...
October 4, 2016: Human Mutation
Madhavilatha Routhu, Sreedevi Thakkallapelli, Prashanthi Mohan, Nadeem Ahmed
Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan...
2016: International Journal of Reproductive Medicine
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