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Prenatal ultrasound

Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii, Hiroki Kurahashi
Thanatophoric dysplasia (TD) and achondroplasia (ACH) are allelic disorders caused by a constitutively active mutation in the FGFR3 gene. Because TD is a lethal disorder and ACH is non-lethal, they need to be distinguished after ultrasound identification of fetal growth retardation with short limbs. Accordingly, we have developed a noninvasive prenatal test using cell-free fetal DNA in the maternal circulation to distinguish TD and ACH. A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected TD or ACH fetus...
March 14, 2018: Congenital Anomalies
Karine Sahakyan, Melissa R Spevak, Harvey A Ziessman, Michael A Gorin, Steven P Rowe
The "drooping lily" sign is identified on intravenous urography or voiding cystourethrography in patients with a duplicated renal collecting system and refers to inferolateral displacement of a functioning lower pole moiety by an obstructed upper pole collecting system. In this case, a 2-month-old girl with a prenatal diagnosis of hydronephrosis was found to have a "scintigraphic drooping lily" sign on Tc-dimercaptosuccinic acid renal scan. Evaluation with ultrasound and voiding cystourethrography confirmed a duplicated collecting system and obstructed upper pole moiety...
March 13, 2018: Clinical Nuclear Medicine
Karl-Heinz Deeg
Prenatal, neonatal meningoencephalitis and infections of the brain in older infants are often associated with serious complications which can be diagnosed by sonography through the open fontanelles. Most frequently postmeningitic hydrocephalus and subdural effusions occur. Rarer complications are brain abscesses and ventriculitis which are caused by gram negative bacteria such as E. coli, Serratia marcescens, Proteus and Enterobacter. A serious complication after ventriculitis is the development of compartment hydrocephalus...
March 13, 2018: Ultraschall in der Medizin
Mert Ozan Bahtiyar, Emre Ekmekci, Emine Demirel, Roxanna A Irani, Joshua A Copel
Monochorionic twin pregnancies are at risk of unique complications due to placental sharing and vascular connections between placental territories assigned for each twin. Twin anemia-polycythemia sequence (TAPS) is an infrequent but potentially dangerous complication of abnormal placental vascular connections. TAPS occurs due to very-small-caliber (< 1 mm) abnormal placental vascular connections which lead to chronic anemia in the donor twin and polycythemia in the recipient twin. TAPS may occur spontaneously or following fetoscopic laser photocoagulation of communicating placental vessels for twin-twin transfusion syndrome...
March 13, 2018: Fetal Diagnosis and Therapy
Rachel A Pilliod, David R Pettersson, Thomas Gibson, Ladawna Gievers, Amanda Kim, Roya Sohaey, Karen Y Oh, Brian L Shaffer
BACKGROUND: Absence of the CSP on prenatal imaging is historically associated with additional anomalies, however recently cases of isolated, absent CSP have also been identified. This study seeks to assess the accuracy of prenatal imaging in evaluating isolated, absent CSP and to describe the spectrum of clinical outcomes. METHODS: This is a retrospective observational study of all prenatally diagnosed absent CSP cases between 2011 and 2016 at our institution. Cases with additional structural parenchymal abnormalities were excluded...
March 13, 2018: Prenatal Diagnosis
Zahra Laleh Eslamian, Elahe Zarean, Maryam Moshfeghi, Zahra Heidari
Background: Early prediction of adverse neonatal outcome would be possible by Doppler impedance indices of middle cerebral artery (MCA), umbilical artery (UmA), and descending aortal artery (AO) that result in decrease neonatal morbidity and mortality rate. The aim of the present study was a determination of optimal value for the ratio of MCA to descending aorta blood flow (MCA/AO) impedance indices and its comparison with the ratio of MCA to UmA (MCA/UmA) impedance indices and their relationship with neonatal outcome...
2018: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
Esra Ozkavukcu, Andelib Babaturk, Nuray Haliloglu, Tuncay Yuce, Tayfun Ucar
Congenital aneurysms and diverticula of the heart are rare anomalies and their prenatal diagnosis is challenging. Fetuses with suspected cardiac aneurysms on ultrasound (US) screening should undergo targeted fetal echocardiography, postnatal imaging, and follow-ups. Herein, we describe the second trimester US scan and postnatal cardiac magnetic resonance imaging (MRI) findings of a baby girl with concurrent septal and right ventricular cardiac aneurysms. Other cardiac and extra-cardiac structures were normal...
February 2018: Eurasian Journal of Medicine
Nan Zhao, Jie Qiu, Shuangge Ma, Yaqun Zhang, Xiaojuan Lin, Zhongfeng Tang, Honghong Zhang, Huang Huang, Ning Ma, Yuan Huang, Michelle L Bell, Qing Liu, Yawei Zhang
Background: Limited epidemiological studies have investigated the relationship between prenatal exposure to ambient particulate matter and risk of abnormal fetal growth, and have reached inconclusive results. No study has been conducted in areas with very high air pollution levels. We investigated the hypothesis that exposure to high levels of particulate matter with aerodynamic diameter no larger than 10 µm (PM10) during pregnancy increases the risk of abnormal fetal growth. Methods: A birth cohort study was performed in Lanzhou, China, 2010-12, including 8877 pregnant women with 18 583 ultrasound measurements of four fetal growth parameters during pregnancy, including biparietal diameter (BPD), femur length (FL), head circumference (HC) and abdominal circumference (AC)...
February 26, 2018: International Journal of Epidemiology
Teresa Victoria, Xiaowei Zhu, Ralph Lachman, Monica Epelman, Edward R Oliver, N Scott Adzick, David M Biko
OBJECTIVE: The purpose of this article is to discuss advances in imaging and diagnosis of skeletal dysplasias. CONCLUSION: Skeletal dysplasias are a heterogeneous group of disorders affecting bone and cartilage and characterized by abnormal shape, growth, and integrity of the skeleton. These disorders may be inherited in a multitude of genetic patterns-autosomal dominant, autosomal recessive, somatic mosaic, imprinting errors of metabolism, X-linked, and teratogenic exposure...
March 12, 2018: AJR. American Journal of Roentgenology
Camille Sauvageot, Jean-Michel Faure, Eve Mousty, Anaïg Flandrin, Dominique Forgues, Olivier Prodhomme, Florent Fuchs
OBJECTIVES: The aim of this study was to evaluate the prevalence, the prenatal and postnatal evolution of isolated fetal splenic cysts. METHODS: All cases of suspected fetal splenic cyst or abdominal unidentified cyst discovered during routine ultrasound scan, from 2007 to 2017, and referred to a French tertiary care Center, were retrospectively collected. For each case, several prenatal parameters and postnatal evolution were reported. RESULTS: Among 5450 cases of fetal anomalies, 14 patients (0...
March 12, 2018: Prenatal Diagnosis
Amihood Singer, Idit Maya, Arie Koifman, Nadra Nasser Samra, Hagit N Baris, Tzipora Falik-Zaccai, Shay Ben Shachar, Lena Sagi-Dain
INTRODUCTION: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel...
March 6, 2018: Early Human Development
Shaobin Lin, Shanshan Shi, Yi Zhou, Yuanjun Ji, Peizhi Huang, Jianzhu Wu, Baojiang Chen, Yanmin Luo
OBJECTIVE: To investigate the detection rate of 16p11.2 recurrent microdeletions in fetuses with abnormal ultrasound findings and determine the common abnormal ultrasound findings in fetuses carrying the deletion. METHODS: This study reviewed 2262 consecutive fetuses with abnormal ultrasound findings who underwent prenatal chromosomal microarray analysis between October 2014 and December 2016. Cases carrying the 16p11.2 recurrent microdeletion were further genetically analyzed, and their clinical features were reviewed...
March 7, 2018: Prenatal Diagnosis
Andrea Ciardulli, Francesco D'Antonio, Elena Rita Magro-Malosso, Lamberto Manzoli, Paul Anisman, Gabriele Saccone, Vincenzo Berghella
INTRODUCTION: To explore the effect of maternal fluorinated steroid therapy on fetuses affected by second degree immune-mediated atrioventricular block (AVB). MATERIAL AND METHODS: Studies reporting the outcome of fetuses with immune-mediated second degree AVB diagnosed on prenatal ultrasound and treated with fluorinated steroids compared to those not treated were included. The primary outcome was the overall progression of AVB to either continuous or intermittent third degree AVB at birth...
March 7, 2018: Acta Obstetricia et Gynecologica Scandinavica
A Drobníková, Z Vocásek, M Kacerovský
OBJECTIVE: A case report of the pregnancy complicated by the presence of vein of Galen aneurysmal malformation in fetus. DESIGN: The case report. SETTING: Department of Obstetrics and Gynaecology, Masaryks Hospital, Jilemnice; Obstetrics and Gynecology Clinic, University Hospital in Hradec Králové. CASE REPORT: The description of the pregnancy complicated by the presence of vein of Galen aneurysmal malformation in a fetus 32 weeks gestation which led to a progressive heart failure and the development of the hydrocephalus...
2018: Ceská Gynekologie
J Pavlíček, E Klásková, E Doležálková, D Matura, R Špaček, T Gruszka, S Polanská, M Procházka
OBJECTIVE: To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes. SETTING: Department of Pediatrics, University Hospital Ostrava. DESIGN: Retrospective study. METHODS: Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016...
2018: Ceská Gynekologie
Alessandra Mendelski Pereira, Denise Leite Maia Monteiro, Heron Werner, Pedro Daltro, Tatiana Fazecas, Bianca Guedes, Gabriele Tonni, Alberto Borges Peixoto, Edward Araujo Júnior
The recent epidemic of Zika virus (ZIKV) infection in Central and South America is one of the most serious global public health emergencies since the Ebola outbreak in West Africa. In Brazil, especially in the north, northeast, and southeast parts of the country, the ZIKV outbreak is a cause of concern for pregnant women because ZIKV intrauterine infection has been found to be associated with multiple brain malformations and microcephaly. In Brazil, the number of newborns with confirmed microcephaly per year recorded during the ZIKV outbreak, has been approximately 15 times greater than previously reported...
March 1, 2018: Journal of the Turkish German Gynecological Association
Matthew Wong, Janette Reyes, Eveline Lapidus-Krol, Monping Chiang, Tilman Humpl, Malikah Al-Faraj, Greg Ryan, Priscilla P L Chiu
Prenatal observed/expected lung-to-head ratio (O/E LHR) by ultrasound correlates with postnatal mortality for congenital diaphragmatic hernia (CDH) patients. The aim of this study is to determine if O/E LHR correlates with pulmonary hypertension (PH) outcomes for CDH patients. METHODS: A single center retrospective chart review was performed for CDH neonates from January 1, 2006, to December 31, 2015, (REB #1000053124) to include prenatal O/E LHR, liver position, first arterial blood gas, repair type, echocardiogram (ECHO), and lung perfusion scan (LPS) results up to 5years of age...
February 7, 2018: Journal of Pediatric Surgery
José Rocha, C Nunes, A Leonardo, M J Correia, M Fernandes, M C Paúl, V Almeida
We have defined a psychological intervention based on cognitive narrative therapy and the Ottawa decision framework to reduce adjustment problems following a termination of pregnancy (TOP) after a positive prenatal diagnosis (PND). The intervention is composed of four sessions: decision, subjectivation, metaphorization, and projecting. This study aims to assess the effectiveness of a cognitive narrative intervention to prevent depression and anxiety symptoms after TOP. The intervention was accepted by 24 participants...
March 3, 2018: Archives of Women's Mental Health
Arkadiusz Krzyżanowski, Dariusz Swatowski, Tomasz Gęca, Maciej Kwiatek, Aleksandra Stupak, Sławomir Woźniak, Anna Kwaśniewska
BACKGROUND: Persistent right umbilical vein (PRUV) is usually an isolated finding but it may be accompanied by other fetal malformations. AIMS: We aimed to determine the incidence of prenatally diagnosed PRUV in a referral population, assess the neonatal outcome and discuss the findings together with those from previous publications. MATERIALS AND METHODS: A total of 2360 women with low-risk singleton pregnancies were examined in the second and third trimesters...
March 2, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
Usha D Nagaraj, Maria A Calvo-Garcia, Beth M Kline-Fath
OBJECTIVE: Screening the cavum septi pellucidi (CSP), more commonly referred to as the "cavum septum pellucidum," is a required component of the fetal anatomic survey during second-trimester ultrasound (US). The inability to identify the normal appearance of this structure warrants further evaluation because septal insufficiency is associated with multiple brain malformations. In this article, we discuss embryology, normal anatomy, and prenatal evaluation of the CSP as well as the differential diagnosis of associated abnormalities...
February 28, 2018: AJR. American Journal of Roentgenology
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