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Multiple gestation and prenatal diagnosis

Peter Štrafela, Alenka Vizjak, Jerica Mraz, Jernej Mlakar, Jože Pižem, Nataša Tul, Tatjana Avšič Županc, Mara Popović
CONTEXT: -The 2015 outbreak of Zika virus in Brazil resulted in a 20-times increased prevalence of congenital microcephaly in stillborns and neonates and was instrumental in raising the suspicion of a causal association between Zika virus and microcephaly. OBJECTIVE: -To provide a comprehensive description of the neuropathologic features of congenital Zika virus infection. DESIGN: -Autopsy evaluation of the brain from a fetus of 32 weeks and 6 days of gestation, with a prenatal diagnosis of microcephaly associated with polymerase chain reaction-confirmed, fetal, Zika virus infection...
October 11, 2016: Archives of Pathology & Laboratory Medicine
Fredrick Dapaah-Siakwan, Carleene Bryan, Lashawndra S Walker, Teresa Del Moral
INTRODUCTION: Splenic hemangiomas (SHs) are the most common benign neoplasms of the spleen. However, they are rare in the newborn period. We present an extremely rare case of congenital SH complicated by Kasabach-Merritt syndrome. CASE PRESENTATION: A 2.93 kg male infant was delivered at term with a prenatal diagnosis of a left infrarenal mass diagnosed by ultrasound at 35 weeks of gestation. Magnetic resonance imaging demonstrated a well-defined splenic mass with multiple flow voids and scattered areas of high intensity suggestive of hemorrhage...
August 26, 2016: Journal of Pediatric Hematology/oncology
C Hellmuth, K L Lindsay, O Uhl, C Buss, P D Wadhwa, B Koletzko, S Entringer
BACKGROUND/OBJECTIVES: Elevated pre-pregnancy BMI (pBMI) and excess gestational weight gain (GWG) constitute important prenatal exposures which may program adiposity and disease risk in offspring. The objective of this study is to investigate the influence of pBMI and GWG on the maternal metabolomic profile across pregnancy, and to identify associations with birthweight. SUBJECTS/METHODS: This is a longitudinal prospective study of 167 non-diabetic women carrying a singleton pregnancy...
August 29, 2016: International Journal of Obesity: Journal of the International Association for the Study of Obesity
Jonathan Komisar, Shubhika Srivastava, Miwa Geiger, John Doucette, Helen Ko, Jay Shenoy, Rajesh Shenoy
BACKGROUND: Antenatal diagnosis of congenital heart defects (CHD) can impact outcomes in neonates with severe CHD. Obstetric screening guidelines and the indications for fetal echocardiography (FE) have evolved in an attempt to improve the early prenatal detection of CHD. Analyzing yield for specific indications will help clinicians better stratify at-risk pregnancies. METHODS: Retrospective cohort study of all FE performed between 2000 and 2010 at a single tertiary care academic medical center in New York City...
August 26, 2016: Congenital Heart Disease
Bárbara Ribeiro, Joana Igreja, Miguel Gonçalves-Rocha, Alexandra Cadilhe
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed...
2016: BMJ Case Reports
Uiko Hanaoka, Hirokazu Tanaka, Toshihiro Yanagihara, Masayuki Ohno, Toshiyuki Hata
BACKGROUND: Early amnion rupture sequence is rare, and its antenatal three-dimensional sonographic features have not been reported. CASE: A 24-year-old japanese woman, gravida 1, para 0, was referred to our sonography clinic during her 16th week of gestation because of multiple fetal anomalies. Three-dimensional sonography clearly showed scalp adhesion, skull defect, abdominal wall disruption, amputation of the right hand, kyphoscoliosis, and clubfeet. Delivery was induced at 17 weeks of gestation...
March 2003: Journal of Medical Ultrasonics
Richelle Olsen, Zoe Doyle, Denis Levy, Tracy Anton, Delaram Molkara, Maryam Tarsa, Mark Sklansky, Dolores H Pretorius
OBJECTIVES: To review all cases of total anomalous pulmonary venous return (TAPVR) or partial anomalous pulmonary venous return (PAPVR) identified prenatally or postnatally at a single institution and to identify factors that may lead to a correct or missed diagnosis in both high- and low-risk fetuses on screening examinations. METHODS: Fetal images from 16 cases of prenatally or postnatally diagnosed T/PAPVR were retrospectively reviewed to analyze factors that influenced interpretations and diagnoses...
June 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Aly Youssef, Francesco D'Antonio, Asma Khalil, Aris T Papageorghiou, Andrea Ciardulli, Antonio Lanzone, Giuseppe Rizzo, Basky Thilaganathan, Gianluigi Pilu
OBJECTIVE: To investigate the incidence of associated anomalies, aneuploidy, cyst progression, need for surgery and neurodevelopmental outcome in fetuses with extra-axial supratentorial intracranial cysts. DATA SOURCES: Medline, Embase and CINAHL databases were searched and the following outcomes analyzed: associated central nervous system (CNS) and extra-CNS anomalies detected at the scan, chromosomal anomalies, additional CNS anomalies detected only at prenatal MRI, additional CNS anomalies detected only after birth, cyst progression in utero, neurological outcome and need for surgery...
2016: Fetal Diagnosis and Therapy
Assaad Kesrouani, Alain Daher, Ali Maoula, Elie Attieh, Sami Richa
OBJECTIVE: Evaluate the outcome of prenatally diagnosed nuchal cord. METHODS: A retrospective study on all cases of prenatally diagnosed nuchal cord. Study end points were gestational age at delivery, intrapartum fetal heart rate (FHR) abnormalities, mode of delivery, intrauterine fetal growth retardation (IUGR), intrauterine fetal demise (IUFD), and the rate of labor induction. RESULTS: This study included 44 cases; 86% were diagnosed at second trimester scan, confirmed by Color Doppler and 3D ultrasound...
April 28, 2016: Journal of Maternal-fetal & Neonatal Medicine
Tommy Carlsson, Gunnar Bergman, Barbro Wadensten, Elisabet Mattsson
OBJECTIVE: To explore the need for information and what information was actually received following prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not easily possible because of legal constraints. METHODS: Twenty-six Swedish-speaking pregnant women (n = 14) and partners (n = 12) were consecutively recruited for semi-structured telephone interviews following the prenatal diagnosis of a congenital heart defect...
June 2016: Prenatal Diagnosis
Salwa Akiki, William R Avison, Kathy N Speechley, M Karen Campbell
BACKGROUND: The current state of research into antenatal anxiety is lacking in a comprehensive understanding of determinants. This study aims to expand knowledge in this area, with the main objective being to determine potential determinants of maternal antenatal state-anxiety. METHODS: Data used for this cross-sectional study were obtained from the Prenatal Health Project: a population cohort study of 2357 women in London, Ontario. 1992 women in their second trimester met inclusion criteria for this study...
May 15, 2016: Journal of Affective Disorders
Qin Yu, Wenhua Zeng, Aiyun Zhou, Wan Zhu, Juan Liu
The aim of the present study was to explore the clinical value of prenatal echocardiographic examination in the diagnosis of fetal cardiac tumors. In total, the cases of 8 fetuses with fetal cardiac tumors, which were identified by prenatal ultrasound examination in The First Affiliated Hospital of Nanchang University between January 2012 and January 2014, were retrospectively analyzed. The size, shape, location, activity and hemodynamic changes of the lesions were described in detail, and the patients were followed up...
February 2016: Oncology Letters
K A Sauder, A P Starling, A L Shapiro, J L Kaar, B M Ringham, D H Glueck, J A Leiferman, A M Siega-Riz, D Dabelea
AIMS: To examine the association between dysglycaemia and multiple modifiable factors measured during pregnancy. METHODS: The Healthy Start Study collected self-reported data on modifiable factors in early and mid-pregnancy (median 17 and 27 weeks gestation, respectively) from 832 women. Women received one point for each modifiable factor for which they had optimum scores: diet quality (Healthy Eating Index score ≥64), physical activity level (estimated energy expenditure ≥170 metabolic equivalent task-h/week), and mental health status (Perceived Stress Scale score <6 and Edinburgh Postnatal Depression Scale score <13)...
May 2016: Diabetic Medicine: a Journal of the British Diabetic Association
F Tetschke, U Schneider, E Schleussner, O W Witte, D Hoyer
Fetal maturation age assessment based on heart rate variability (HRV) is a predestinated tool in prenatal diagnosis. To date, almost linear maturation characteristic curves are used in univariate and multivariate models. Models using complex multivariate maturation characteristic curves are pending. To address this problem, we use Random Forest (RF) to assess fetal maturation age and compare RF with linear, multivariate age regression. We include previously developed HRV indices such as traditional time and frequency domain indices and complexity indices of multiple scales...
March 1, 2016: Computers in Biology and Medicine
Astrid Hellmund, Christoph Berg, Annegret Geipel, Annette Müller, Ulrich Gembruch
PURPOSE: Fetal akinesia deformation sequence (FADS) is a clinically and genetically heterogenous disorder. In this study, the different sonographic abnormalities are described in a larger number of affected fetuses. METHODS: This retrospective study included 79 cases of suspected FADS observed in our tertiary referral center between January 2001 and February 2015. Electronic stored reports and images of the examination were reviewed as well as autopsy reports and pediatric charts...
October 2016: Archives of Gynecology and Obstetrics
Rong Zhao, Yan Ruan, Xin Wang
OBJECTIVE: To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). METHODS: Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenatal examinations were carried out in all pregnant women. WGS was performed for the detection of copy number variation (CNV). WES was conducted to determine the mutation of fibroblast growth factor receptor 3 (FGFR3) gene in one special family with rickets and dwarfism...
2015: International Journal of Clinical and Experimental Medicine
I Babović, S Plešinac, Z Radojičić, O Antonović, R Sparić, D Plećaš, N Radunović
AIM: To determine the role of fetal multiples of the median of middle cerebral artery peak systolic velocity (MoM MCA-PSV), predicts the rate of decline in fetal hematocrit (Hct) for determination of the best timing for the second intrauterine intravascular transfusion (IUIVT) in fetuses with Rh alloimmunisation. MATERIALS AND METHOD: Retrospective study of 59-monofetal alloimmunized pregnancies from 2005 to 2012 that underwent first and second IUIVT were assessed in Department of Gynecology and Obstetrics, Belgrade, Serbia...
2015: Clinical and Experimental Obstetrics & Gynecology
Lyu Zhang, Zhaoyun Zhang, Hongying Ye, Xiaoming Zhu, Yiming Li
The study was aimed to evaluate the effects of levothyroxine (LT4) supplemental replacement treatment for pregnancy and analyze the associations between the clinical classification of hypothyroidism and reduced thyroid-stimulating hormone (TSH) in LT4 therapy. Totally, 195 pregnant women with hypothyroidism receiving routine prenatal care were enrolled. They were categorized into three groups: overt hypothyroidism (OH), subclinical hypothyroidism (SCH) with negative thyroperoxidase antibody (TPOAb), and SCH with positive TPOAb...
2016: Gynecological Endocrinology
Arihiro Shiozaki, Satoshi Yoneda, Takashi Iizuka, Tae Kusabiraki, Masami Ito, Mika Ito, Noriko Yoneda, Hideo Yoshimoto, Shigeru Saito
Enterolithiasis is an uncommon finding of a dilated hyperechogenic bowel with multiple ball-like echogenic structures at a routine prenatal check-up using ultrasonography. We here report a case of prenatally diagnosed enterolithiasis at 18 weeks of gestation, showing multiple hyperechogenic foci rolling within the bowel fluid after peristalsis. The size of the dilated bowel gradually increased during pregnancy. Magnetic resonance image demonstrated the dilated lower bowel with blind-ending rectum. A postnatal contrast medium study with retrograde urethrography revealed a middle imperforate anus and a rectourethral fistula...
January 2015: Journal of Medical Ultrasonics
Alessandro Prete, Rosa Maria Paragliola, Roberto Salvatori, Salvatore Maria Corsello
OBJECTIVE: Catecholamine-secreting tumors (pheochromocytomas and paragangliomas) presenting during pregnancy are extremely rare, but they can be fatal to both mother and fetus. Recent discoveries in the genetic background of these tumors are expected to address an increasing number of at-risk women to prenatal diagnosis. METHODS: The literature was reviewed in order to provide clinicians with a practical and updated guide on how to manage this life-threatening condition...
March 2016: Endocrine Practice
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