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Prenatal Ultrasonography

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https://www.readbyqxmd.com/read/28326564/parental-serum-alkaline-phosphatase-activity-as-an-auxiliary-tool-for-prenatal-diagnosis-of-hypophosphatasia
#1
Yuichiro Takahashi, Hideaki Sawai, Jun Murotsuki, Shuhei Satoh, Takahiro Yamada, Hiromi Hayakawa, Yutaka Kouduma, Masakatsu Sase, Atsushi Watanabe, Osamau Miyazaki, Gen Nishimura
OBJECTIVE: To clarify the usefulness of parental Alkaline phosphatase (ALP) for prenatal diagnosis of hypophosphatasia (HPP). METHODS: Maternal (m) and paternal (p) ALP values were measured in 77 cases from A multi-center cohort (fetal-skeletal dysplasia forum in Japan) of cases with short limbs on ultrasonography during pregnancy. After birth, X-rays, cord blood ALP, and gene analysis were evaluated to achieve an exact diagnosis. The screening usefulness of ALP was examined retrospectively...
March 22, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28322033/prenatal-diagnosis-of-aberrant-right-subclavian-artery-in-an-unselected-population
#2
Mi Jin Song, Byoung Hee Han, Young-Hwa Kim, So Young Yoon, Yoo Mi Lee, Hye Su Jeon, Bo Kyung Park
Purpose: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other congenital anomalies. Methods: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine antenatal sonography at our institution between April 2014 and September 2015. The right subclavian artery was assessed using grayscale and color Doppler ultrasonography in the transverse 3-vessel and tracheal view, and confirmed in the coronal plane...
February 20, 2017: Ultrasonography
https://www.readbyqxmd.com/read/28304101/the-value-of-prenatal-ultrasonographic-diagnosis-of-diastematomyelia
#3
Qiuju Wei, Ailu Cai, Xintian Wang, Xiaoguang Wang, Limei Xie
OBJECTIVES: To evaluate the value of prenatal ultrasonographic diagnosis of diastematomyelia, and to provide a basis for the diagnosis and differential diagnosis of fetal diastematomyelia. METHODS: Four fetuses with suspected diastematomyelia based on prenatal ultrasonography are presented. Detailed prenatal ultrasonography was performed to examine spinal cord abnormalities. The region of interest-based spine sagittal plane was defined and 3D volumetric scans were performed, as needed...
March 17, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28288452/fetal-magnetic-resonance-imaging-findings-in-prenatal-zika-virus-infection
#4
José Enrique Sanín-Blair, Carolina Gutiérrez-Márquez, Diego A Herrera, Arastoo Vossough
Brain lesions and malformations have been described on ultrasonography of prenatal Zika infection; however, there are scarce reports about fetal magnetic resonance (MR) findings. We report 3 cases of fetuses with confirmed intrauterine Zika virus infection evaluated by ultrasound and fetal MR. Various morphometric measurements were assessed and brain maturation was calculated with the fetal total maturation score. Fetuses with prenatal Zika virus infection showed retardation in brain maturation indexes evaluated by fetal MR...
March 14, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28272663/neu-laxova-syndrome-an-unusual-association-with-kyphosis
#5
Amandeep Kaur, Vijayalaxmi Suranagi, Kamal Patil, Hema Bannur
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28254201/unusual-association-of-scn2a-epileptic-encephalopathy-with-severe-cortical-dysplasia-detected-by-prenatal-mri
#6
Silvia Bernardo, Enrica Marchionni, Sabrina Prudente, Paola De Liso, Alberto Spalice, Antonella Giancotti, Lucia Manganaro, Antonio Pizzuti
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis...
February 7, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28238368/change-in-diagnostic-confidence-brought-about-by-using-in-utero-mri-for-fetal-structural-brain-pathology-analysis-of-the-meridian-cohort
#7
P D Griffiths, M Bradburn, M J Campbell, D J A Connolly, C L Cooper, D Jarvis, M D Kilby, G Mason, C Mooney, S C Robson, A Wailoo
AIM: To measure possible change in diagnostic confidence by performing in utero magnetic resonance imaging (iuMRI) studies on fetuses with brain abnormalities recognised on ultrasonography (US). MATERIALS AND METHODS: The analyses are based on the primary cohort from the prospective MERIDIAN study, which consisted of 570 fetuses with brain abnormalities detected on US, with iuMRI performed within 2 weeks of US and complete outcome reference data. The cohort was recruited between July 2011 and August 2014, and written informed consent was obtained for all participants...
February 23, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28228908/diagnosis-of-neonatal-neuroblastoma-with-postmortem-magnetic-resonance-imaging
#8
James Davis, Nathan Novotny, Jacqueline Macknis, Zeynep Alpay-Savasan, Luis F Goncalves
Postmortem magnetic resonance imaging (MRI) is emerging as a valuable tool to accompany traditional autopsy and has potential for use in cases when traditional autopsy is not possible. This case report will review the use of postmortem MRI with limited tissue sampling to differentiate between metastatic neuroblastoma and hepatoblastoma which could not be clearly differentiated with prenatal ultrasound, prenatal MRI, or emergent postnatal ultrasound. The mother presented to our institution at 27 weeks gestation after an obstetric ultrasound at her obstetrician's office identified a large abdominal mass...
March 2017: Radiology case reports
https://www.readbyqxmd.com/read/28150366/correlation-between-umbilical-resistance-index-and-fetal-growth-pilot-study
#9
Mehdi Kehila, Omar Touhami, Rim Ben Hmid, Hassine Saber Abouda, Khlifi Abdeljelil, Amira Ayachi, Mechaal Mourali, Hédi Khairi, Mohamed Badis Chanoufi
AIM: To investigate normal pregnancies to determine whether there is a relationship between umbilical resistance and fetal growth. METHODS: This prospective study was conducted in three academic departments. Third trimester routine prenatal ultrasonography was used to estimate fetal weight and measure umbilical resistance index (RI). After delivery the birthweight was noted, along with the time interval between the ultrasound and the delivery, and then the weekly weight gain was calculated...
February 2, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28117098/perinatal-testicular-torsion-ultrasound-assessment-and-differential-diagnosis
#10
C Sangüesa Nebot, R Llorens Salvador, S Picó Aliaga, E Garcés Iñigo
Perinatal testicular torsion, defined as torsion occurring in the prenatal period or in the first month after birth, accounts for 10% of all cases of testicular torsion in pediatric patients. Most are extravaginal, and intravaginal torsion is rare. Its management is controversial, due to the low viability of the testis and the possibility of bilateral torsion. Ultrasonography is the method of choice to study testicular torsion. Combining B-mode and power Doppler imaging facilitates a fast reliable diagnosis...
January 20, 2017: Radiología
https://www.readbyqxmd.com/read/28070244/assessment-of-fetus-during-second-trimester-ultrasonography-using-hdlive-software-what-is-its-real-application-in-the-obstetrics-clinical-practice
#11
Gabriele Tonni, Gianpaolo Grisolia, Eduardo Félix Santana, Edward Araujo Júnior
AIM: To show imaging results from application of four-dimensional (4D) ultrasound lightening technique (HDlive™) in clinical obstetrics practice. METHODS: Normal and abnormal fetuses at second and third trimester of pregnancy undergoing routine scan with 4D HDlive™ (5DUS) in the rendering mode are described. Realistic features of fetal structures were provided by 5DUS in the rendering mode. Normal anatomy as well as pathology like cleft lip, hypoplastic face, micrognathia, low-set ears, corpus callosum, arthrogryposis, aortic arch, left congenital diaphragmatic hernia are highlighted in this study...
December 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/28062834/prenatal-no2-exposure-and-ultrasound-measures-of-foetal-growth-a-prospective-cohort-study-in-wuhan-china
#12
Weiye Wang, Chunrong Zhong, Li Huang, Xuezhen Zhou, Renjuan Chen, Jiangyue Wu, Xiating Li, Ting Xiong, Chaoqun Liu, Mei Xiao, Xuefeng Yang, Liping Hao, Nianhong Yang, Sheng Wei
OBJECTIVES: To examine the relationship between prenatal nitrogen dioxide (NO2) exposure and foetal growth in a prospective cohort of 1001 Chinese women. METHODS: The maternal NO2 exposure levels were estimated using land-use regression models based on home address. The biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), femur length (FL) and estimated foetal weight (EFW) were evaluated via ultrasonography. The multiple linear regression model was used to adjust for confounders, and the mixed-effect model was used to assess longitudinal effect...
January 6, 2017: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28029460/-predictive-tools-of-preterm-birth-in-asymptomatic-high-risk-pregnancy
#13
J Blanc, F Bretelle
OBJECTIVE: Describe tools designed to predict preterm birth in asymptomatic high-risk pregnancy and determine their predictive value. METHODS: The PubMed database, the Cochrane Library and the recommendations from the French and foreign obstetrical societies or colleges have been consulted. RESULTS: Obstetric history particularly spontaneous preterm birth identifies a population at risk for preterm birth for the current pregnancy (LE3). This risk is related to the number of prior preterm birth and is even higher than the term of the prior event is more premature and that the event concerns the last pregnancy (LE3)...
October 29, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27987045/continuous-fetal-head-flexion-as-a-marker-for-prenatal-diagnosis-of-lethal-multiple-pterygium-syndrome-a-case-report
#14
Akihiro Hasegawa, Mieko Hanaoka, Takeshi Murakoshi
Lethal multiple pterygium syndrome (LMPS) is a fatal hereditary disease associated with abnormalities such as pterygium-induced congenital contractures. Fetal hydrops is present in more than half of all patients with LMPS, and all patients with LMPS are either stillborn or die in the early neonatal period. Ultrasonography findings for the prenatal diagnosis of LMPS include the detection of cutaneous webbing at multiple joints, multiple joint contractures, absent limb movement, and increased nuchal translucency...
December 16, 2016: Journal of Medical Ultrasonics
https://www.readbyqxmd.com/read/27984608/-application-of-combined-chromosome-karyotype-analysis-and-multiplex-ligation-probe-amplification-technique-for-the-prenatal-diagnosis-of-fetal-abnormalities
#15
Nan Jiang, Dongyi Yu
OBJECTIVE: To assess the value of combined chromosome karyotype analysis and multiplex ligation probe amplification (MLPA) assay for the prenatal diagnosis of fetuses with abnormalities detected by ultrasonography. METHODS: With informed consent obtained, 72 pregnant women with ultrasound detected fetal structural abnormalities underwent percutaneous umbilical cord blood sampling. Routine karyotype analysis and MLPA assay were used to detect potential chromosomal deletions and duplications...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#16
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27916713/prognostic-value-of-ultrasound-grading-systems-in-prenatally-diagnosed-unilateral-urinary-tract-dilatation
#17
Aurélien Scalabre, Delphine Demède, Ségolène Gaillard, Jean-Pierre Pracros, Pierre Mouriquand, Pierre-Yves Mure
PURPOSE: We compared the prognostic value of anteroposterior intrasinus diameter of the renal pelvis, urinary tract dilatation and the Society for Fetal Urology grading system in children with prenatally diagnosed unilateral urinary tract dilatation. MATERIALS AND METHODS: All newborns with prenatally diagnosed unilateral urinary tract dilatation, normal bladder and anteroposterior intrasinus diameter 10 mm or greater on the first postnatal ultrasonography were prospectively enrolled from January 2011 to February 2015...
December 1, 2016: Journal of Urology
https://www.readbyqxmd.com/read/27896258/secondary-abdominal-pregnancy-in-human-immunodeficiency-virus-positive-woman
#18
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/27878609/patterns-of-the-utilization-of-prenatal-diagnosis-services-among-pregnant-women-their-satisfaction-and-its-associated-factors-in-viet-nam
#19
Duong Thi Thuy Doan, Huong Thi Thu Nguyen, Ha Thi Thu Bui
OBJECTIVES: This study aimed at understanding the patterns of the utilization of prenatal diagnostic (PND) services among pregnant women, their satisfaction and its associated factors at three regional prenatal diagnostic centres in Viet Nam. METHODS: A cross-sectional design was used, with a consecutive sampling method to recruit pregnant women who used PND services at the three biggest regional PND services centres in Viet Nam between January and June, 2014. A total of 298 participants, about 100 participants per centre were interviewed and included in data analysis...
February 2017: International Journal of Public Health
https://www.readbyqxmd.com/read/27874196/prenatal-diagnosis-of-upper-extremity-malformations-with-ultrasonography-diagnostic-features-and-perinatal-outcome
#20
Mehmet Serdar Kutuk, Ozguc Altun, Sadan Tutus, Muhammet Ensar Dogan, Mahmut Tuncay Ozgun, Munis Dundar
OBJECTIVE: The aim of this study was to assess the sonographic (US) characteristics, associated malformations, chromosomal status, and perinatal outcomes of fetuses with an upper extremity malformation (UEM) detected by US examination. METHODS: The data of all patients evaluated in the Department of Obstetrics and Gynecology, Prenatal Diagnosis Unit between 2010 and 2015 were searched for UEM. RESULTS: A total of 51 cases with UEM were detected...
November 22, 2016: Journal of Clinical Ultrasound: JCU
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