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Fetal anomaly

Julien Muffat, Yun Li, Attya Omer, Ann Durbin, Irene Bosch, Grisilda Bakiasi, Edward Richards, Aaron Meyer, Lee Gehrke, Rudolf Jaenisch
Maternal Zika virus (ZIKV) infection during pregnancy is recognized as the cause of an epidemic of microcephaly and other neurological anomalies in human fetuses. It remains unclear how ZIKV accesses the highly vulnerable population of neural progenitors of the fetal central nervous system (CNS), and which cell types of the CNS may be viral reservoirs. In contrast, the related dengue virus (DENV) does not elicit teratogenicity. To model viral interaction with cells of the fetal CNS in vitro, we investigated the tropism of ZIKV and DENV for different induced pluripotent stem cell-derived human cells, with a particular focus on microglia-like cells...
June 18, 2018: Proceedings of the National Academy of Sciences of the United States of America
Elisa Ballardini, Pietro Marino, Elisa Maietti, Gianni Astolfi, Amanda J Neville
Agenesis and hypoplasia of the corpus callosum (ACC and HCC) are heterogeneous group with a large variation in published prevalence based on few population based studies. The aim of this work is to describe prevalence, associated factors and other malformations present in cases with either agenesis or hypoplasia of the corpus callosum, using a population-based database of all malformations diagnosed in Emilia-Romagna, Italy, (the Emilia-Romagna Registry on Congenital Malformations, IMER). This registry links and integrates hospital discharge records, birth certificates with cases reported by referral clinicians to identify all structural malformations diagnosed within one year of life regarding live birth, fetal death or termination of pregnancy due to fetal malformations (TOPFA)...
June 11, 2018: European Journal of Medical Genetics
Meng-Che Tsai, Chih-Ting Lee, I-Ning Tsai, Shu-Ting Gan, Yi-Lin Liang, Sheng-Hsiang Lin
Minor physical anomalies (MPAs) are associated with disruptions of fetal development. We propose that the same genetic compositions that contribute to the presence of MPAs, also predispose individuals to health-compromising behaviors, thus considering MPAs as particular endophenotypes.We developed a screening questionnaire for problematic conduct, substance abuse, and early sexual practice. A total of 108 adolescents (55 males, 50.9%) aged 11 to 19 years were recruited and further divided into case and control groups according to their answers to the questions of health behaviors mentioned above...
June 2018: Medicine (Baltimore)
Priyadarshani Galappatthy, Chiranthi Kongala Liyanage, Marianne Nishani Lucas, Dilini T L M Jayasekara, Sachith Aloka Abhayaratna, Chamari Weeraratne, Kusum De Abrew, Padma Sriyani Gunaratne, Ranjani Gamage, Chandrika N Wijeyaratne
BACKGROUND: Management of epilepsy during pregnancy in a resource-limited setting (RLS) is challenging. This study aimed to assess obstetric outcomes and effects on babies of women with epilepsy (WWE) exposed to Anti-epileptic drugs (AEDs) compared to non-exposed controls in a RLS. METHODS: Pregnant WWE were recruited from antenatal and neurology clinics of a tertiary care hospitals in Sri Lanka. Patients were reviewed in each trimester and post-partum. Medication adherence, adverse effects, seizure control and carbamazepine blood levels were monitored...
June 14, 2018: BMC Pregnancy and Childbirth
Bin Zhang, Cong Shen, Huiyan Wang, Zhengmao Cai, Beiyi Lu, Xiaoqing Zhang, Bin Yu, Ting Wang
OBJECTIVE: To explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood. METHODS: A total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up. RESULTS: Among the 31 832 cases, 200 patients have failed for the first NIPT test. Second test has succeeded in 171 (85.9%) of 199 cases, while 28 cases (14...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Franz Hanschmidt, Michaela Nagl, Johanna Klingner, Holger Stepan, Anette Kersting
BACKGROUND: Diagnosis of fetal anomaly is a significant life event and social stigma can negatively impact on the well-being of women opting for an abortion. This study investigated the psychometric properties of a measure of stigma among women who had had an abortion after diagnosis of fetal anomaly in a German setting. METHODS: The Individual Level Abortion Stigma (ILAS) scale was translated into German. Psychometric properties of the ILAS scale were examined among 130 women with a history of an abortion after diagnosis of fetal anomaly...
2018: PloS One
Tally Lerman-Sagie, Daniella Prayer, Sophia Stöcklein, Gustavo Malinger
The embryologic development of the cerebellum extends over a long time period, thus making it vulnerable to a broad spectrum of malformations and disruptions. Knowledge of the main steps of fetal posterior fossa development; the normal imaging patterns at different stages of embryogenesis; the large spectrum of cerebellar malformations; and their clinical presentations enables diagnosis and precise counseling of parents. Sonography is the most important imaging method for the screening of cerebellar malformations since it is noninvasive, widely available, and safe for both mother and child...
2018: Handbook of Clinical Neurology
Sarah J Melov, Irene Tsang, Ralph Cohen, Nadia Badawi, Karen Walker, Soundappan S V Soundappan, Thushari I Alahakoon
BACKGROUND: Gastroschisis is a congenital anomaly of the fetal abdominal wall, usually to the right side of umbilical insertion. It is often detected by routine antenatal ultrasound. Significant maternal and pediatric resources are utilised in the care of women and infants with gastroschisis. Increasing rates of gastroschisis worldwide have led institutions to review local data and investigate outcomes. A collaborative project was developed to review local epidemiology and investigate antenatal and neonatal factors influencing hospital length of stay (LOS) and total parental nutrition (TPN) in infants born with gastroschisis...
June 11, 2018: BMC Pregnancy and Childbirth
Mirra Manevich-Mazor, Alina Weissmann-Brenner, Omer Bar Yosef, Chen Hoffmann, Roei David Mazor, Mariela Mosheva, Reuven Ryszard Achiron, Eldad Katorza
OBJECTIVE:  To evaluate the added value of fetal MRI to ultrasound in detecting and specifying callosal anomalies, and its impact on clinical decision making. METHODS:  Fetuses with a sonographic diagnosis of an anomalous corpus callosum (CC) who underwent a subsequent fetal brain MRI between 2010 and 2015 were retrospectively evaluated and classified according to the severity of the findings. The findings detected on ultrasound were compared to those detected on MRI...
June 7, 2018: Ultraschall in der Medizin
Karina Krajden Haratz, Yaakov Melcer, Zvi Leibovitz, Hagit Feit, Tally Kerman-Sagie, Dorit Lev, Shimon Ginath, Liat Gindes, Antonio Fernandes Moron, Gustavo Malinger
OBJECTIVE:  To construct prenatal age-specific reference intervals for sonographic measurements of the optic nerve sheath diameter (ONSD) during gestation in normal fetuses. MATERIALS AND METHODS:  Prospective cross-sectional study of fetuses assessed in antenatal ultrasound units between 2010 and 2014. The examination was based on a technique for the sonographic assessment of ONSD previously published by our group. The mean values and SDs of the ONSD were modeled as a function of the gestational week by curve estimation analysis based on the highest adjusted R2 coefficient...
June 7, 2018: Ultraschall in der Medizin
Laurent Mandelbrot, François Kieffer, Rémi Sitta, Hélène Laurichesse-Delmas, Norbert Winer, Louis Mesnard, Alain Berrebi, Gwenaëlle Le Bouar, Jean-Paul Bory, Anne-Gaëlle Cordier, Yves Ville, Franck Perrotin, Jean-Marie Jouannic, Florence Biquard, Claude d'Ercole, Véronique Houfflin-Debarge, Isabelle Villena, Rodolphe Thiébaut
BACKGROUND: The efficacy of prophylaxis to prevent prenatal toxoplasmosis transmission is controversial, without any previous randomized clinical trial. In France, spiramycin (S) is usually prescribed for maternal seroconversions. A more potent pyrimethamine + sulfadiazine (PS) regimen is used to treat congenital toxoplasmosis and is offered in some countries as prophylaxis. OBJECTIVE: To compare the efficacy and tolerance of PS vs S to reduce placental transmission...
June 2, 2018: American Journal of Obstetrics and Gynecology
Aurélie D'Hondt, Marie Cassart, Raymond De Maubeuge, Gustavo Soto Ares, Jacques Rommens, E Fred Avni
Postmortem fetal magnetic resonance imaging (PMFMRI) is increasingly used thanks to its good overall concordance with histology paralleling the rising incidence of parental refusal of autopsy. The technique could become a routine clinical examination but it needs to be standardized and conducted by trained radiologists. Such radiologists should be aware of not only the (congenital and acquired) anomalies that can involve the fetus, but also of the "physiological" postmortem changes. In this article, we intend to focus on the contribution of PMFMRI based on the existing literature and on our own experience, as we presently perform the technique routinely in our clinical practice...
June 4, 2018: Insights Into Imaging
Caroline Q Stephens, Stephanie Dukhovny, Kathryn J Rowland, Nicholas A Hamilton
BACKGROUND: Duodenal obstruction (DO) is associated with congenital cardiac anomalies that may complicate the delivery of anesthesia during surgical repair. As most infants undergo fetal ultrasounds that identify cardiac anomalies, our aim was to determine the utility of obtaining preoperative neonatal echocardiograms in all DO patients. METHODS: We conducted a retrospective cohort study of all DO patients treated at two tertiary care children's hospitals between January 2005 and February 2016...
May 6, 2018: Journal of Pediatric Surgery
Michal Fishel-Bartal, Hadel Watad, Chen Hoffmann, Reuven Achiron, Eran Barzilay, Eldad Katorza
INTRODUCTION: Despite meticulous investigation of polyhydramnios cases, in many of these cases, congenital anomalies are detected only after birth. The aim of our study was to explore the contribution of fetal brain MRI to the detection of CNS anomalies in cases of polyhydramnios. MATERIALS AND METHODS: This was retrospective cohort study on fetuses referred for the investigation of polyhydramnios at a single tertiary center. All fetuses underwent a detailed sonographic anatomical scan and a fetal brain MRI...
June 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
Asher Ornoy, Gideon Koren, Joseph Yanai
We discuss the possibilities to prevent the post-exposure teratogenic effects of several teratogens: valproic acid (VPA), diabetes and alcohol. Co-administration of folic acid with VPA reduced the rate of Neural Tube Defects (NTD) and other anomalies in rodents, but apparently not in pregnant women. Antioxidants or the methyl donor S-adenosyl methionine prevented Autism Spectrum Disorder (ASD) like behavior in mice and rats. In vivo and in vitro studies demonstrated that antioxidants, arachidonic acid, myoinositol and nutritional agents may prevent diabetes-embryopathy...
May 31, 2018: Reproductive Toxicology
Lukas Cerveny, Zuzana Ptackova, Marketa Durisova, Frantisek Staud
Atazanavir and ritonavir are preferred protease inhibitors frequently used in combination antiretroviral therapy for prevention of HIV mother-to-child transmission. Although their use is associated with higher risk of congenital anomalies, factors affecting atazanavir and ritonavir placental transfer are not known. This study is the first attempt to evaluate whether the placental drug efflux ATP-binding cassette (ABC) transporters, p-glycoprotein (ABCB1), breast cancer resistance protein (ABCG2) and/or multidrug resistance-associated proteins 2 (ABCC2), affect placental pharmacokinetics of atazanavir or ritonavir...
May 30, 2018: Reproductive Toxicology
Roee Birnbaum, Stefano Parodi, Gloria Donarini, Gabriella Meccariello, Ezio Fulcheri, Dario Paladini
OBJECTIVE: To describe A) the technical aspects; B) the anatomical boundaries of the fetal 3rd ventricle (3V) on the midsagittal sonographic view; to assess: C) different biometric parameters in normal and abnormal fetuses; D) and their reproducibility. METHODS: This study included 67 normal and 50 CNS anomalies fetuses which include: 1) obstructive severe ventriculomegaly (SVM; atrial width ≥ 15 mm); 2) moderate ventriculomegaly (10-14.9 mm); 3) corpus callosum agenesis (ACC)...
June 1, 2018: Prenatal Diagnosis
Jing Wang, Lin Chen, Cong Zhou, Li Wang, Hanbin Xie, Yuanyuan Xiao, Hongmei Zhu, Ting Hu, Zhu Zhang, Qian Zhu, Zhiying Liu, Shanlin Liu, He Wang, Mengnan Xu, Zhilin Ren, Fuli Yu, David S Cram, Hongqian Liu
BACKGROUND: Next generation sequencing (NGS) is emerging as a viable alternative to chromosome microarray analysis for the diagnosis of chromosome disease syndromes. One NGS methodology, copy number variation sequencing (CNV-Seq), has been shown to deliver high reliability, accuracy and reproducibility for detection of fetal CNVs in prenatal samples. However, its clinical utility as a first tier diagnostic method has yet to be demonstrated in a large cohort of pregnant women referred for fetal chromosome testing...
May 28, 2018: American Journal of Obstetrics and Gynecology
Krzysztof Grabowski, Maciej Aleksander Karolczak, Ewa Zacharska-Kokot, Wojciech Mądry, Jacek Pająk
Background: In the present paper, the authors describe a case of a rare congenital defect - anomalous origin of the right coronary artery from the main pulmonary artery diagnosed in a 5-week-old infant who was deemed eligible for surgical treatment based solely on echocardiography. Such anatomical abnormalities of the coronary arteries are subtle and thus extremely difficult to visualize, especially in patients in whom permanent extensive damage of the cardiac muscle has not yet occurred...
March 2018: Journal of Ultrasonography
Wenjia Lei, Xue Sun, Faiza Amber Siddiqui, Yu Wang, Ying Zhang
Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly characterized by hypoplastic or even absent pulmonary valve, to-and-fro flow across the pulmonary valve annulus, and dilatation of main pulmonary artery and branches. It is crucial to evaluate the degree of dilatation of pulmonary arteries and the presence of associated malformation and chromosomal anomalies affecting pregnancy decision. We described two- and three-dimensional (3D) echocardiographic findings of one fetus with APVS and indicated the beneficial contribution of 3D technology in understanding the anatomy...
May 25, 2018: Echocardiography
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