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Prevalence of birth defects

Ixora Kamisan Atan, Sylvia Lin, Hans Peter Dietz, Peter Herbison, Peter Donald Wilson
INTRODUCTION AND HYPOTHESIS: Levator ani muscle (LAM) and anal sphincter tears are common after vaginal birth and are associated with female pelvic organ prolapse and anal incontinence. The impact of subsequent births on LAM and external anal sphincter (EAS) integrity is less well defined. The objective of this study was to determine the prevalence of LAM and EAS trauma in primiparous (VP1) and multiparous (VP2+) women who had delivered vaginally to assess if there were differences between the two groups...
March 21, 2018: International Urogynecology Journal
Barbara Mostacci, Francesca Bisulli, Elisabetta Poluzzi, Guido Cocchi, Carlo Piccinni, Alessandra Curti, Giuliana Simonazzi, Gianni Astolfi, Nicola Rizzo, Corrado Zenesini, Roberto D'Alessandro, Paolo Tinuper
OBJECTIVES: To assess the prevalence of antiepileptic drug (AED) exposure in pregnant women and the comparative risk of terminations of pregnancy (TOPs), spontaneous abortions, stillbirths, major birth defects (MBDs), neonatal distress and small for gestational age (SGA) infants following intrauterine AED exposure in the Emilia Romagna region, Italy (4 459 246 inhabitants on 31 December 2011). METHODS: We identified all deliveries and hospitalised abortions in Emilia Romagna in the period 2009-2011 from the certificate of delivery assistance registry (Certificato di Assistenza al Parto- CedAP) and the hospital discharge card registry, exposure to AEDs from the reimbursed drug prescription registries, MBDs from the regional registry of congenital malformations, and Apgar scores and cases of SGA from the CedAP...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Fernando A Poletta, Monica Rittler, Cesar Saleme, Hebe Campaña, Juan A Gili, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López-Camelo
BACKGROUND: Historically, neural tube defects (NTDs) have predominated in female infants but the reasons remain unclear. In South America, the pre- folic acid fortification (FAF) rates of NTDs were around 18/10,000 births for females and 12/10,000 births for males, with an estimated sex ratio (male/female) of 0.67. During the post- FAF period, unpublished routine reports have indicated changes in the sex ratio for these defects while some descriptive reports are controversial. To date and to our knowledge, however, no studies specifically focusing on these changes to test this hypothesis directly have been undertaken...
2018: PloS One
Vijaya Kancherla, Sarah Zimmerman
OBJECTIVES: Mandatory fortification of flour with folic acid has been proven to be a highly effective way to prevent spina bifida and anencephaly. Yet, over 100 countries worldwide do not implement this intervention. Our objectives were to identify countries with an immediate potential for mandatory fortification of wheat flour with folic acid and to estimate the number of preventable cases of spina bifida and anencephaly that would be averted each year through the intervention. METHODS: We examined folic acid fortification characteristics in countries as of September 2017...
March 13, 2018: Birth Defects Research
Lorenzo D Botto, Pierpaolo Mastroiacovo
Preventing neural tube defects (NTDs) easily qualifies as a high-value opportunity to improve childhood survival and health: the unmet need is significant (major preventable burden), the intervention is transformative (providing sufficient folic acid), and delivery strategies (e.g., fortification) are effective in low-resource countries. Yet, NTD prevention is lagging. Can public health surveillance help fix this problem? Critics contend that surveillance is largely unnecessary, that limited resources are best spent on interventions, and that surveillance is unrealistic in developing countries...
February 2018: Annals of the New York Academy of Sciences
Vijaya Kancherla, Robert E Black
Neural tube defects (NTD) are major congenital malformations affecting births worldwide. NTD are associated with life-long disability, significant medical care costs, and child mortality. Their prevalence varies worldwide. We conducted a review of published literature and surveillance systems to examine challenges in estimating an overall global prevalence estimate for NTD. Our review showed that most low- and middle-income countries do not track NTD and indicate a high prevalence of these malformations where data are available...
February 2018: Annals of the New York Academy of Sciences
Patrick Drake, Anne K Driscoll, T J Mathews
Maternal tobacco use during pregnancy has been linked to a host of negative infant and child outcomes, including low birthweight, preterm birth, and various birth defects (1-5). The 2003 revision of the U.S. Standard Certificate of Live Birth included new and modified items on maternal cigarette smoking before and during pregnancy. The 2016 natality data file is the first for which this information is available for all states and the District of Columbia (D.C.). This report presents the prevalence of cigarette smoking at any time during pregnancy among women who gave birth in 2016 in the United States by state of residence as well as maternal race and Hispanic origin, age, and educational attainment...
February 2018: NCHS Data Brief
Kayla N Anderson, Annelise C Dutton, Cheryl S Broussard, Sherry L Farr, Jennifer N Lind, Susanna N Visser, Elizabeth C Ailes, Stuart K Shapira, Jennita Reefhuis, Sarah C Tinker
OBJECTIVE: The objective of this study was to examine the prevalence of, and maternal characteristics associated with, ADHD medication use before and during pregnancy, and associations between early pregnancy ADHD medication use and risk for 12 selected birth defects. METHOD: We used data from the National Birth Defects Prevention Study (1998-2011), a U.S. population-based case-control study examining risk factors for major structural birth defects. RESULTS: There was an increase in ADHD medication use from 1998-1999 (0...
March 1, 2018: Journal of Attention Disorders
Adnan Ansar, Ahmed Ehsanur Rahman, Lorena Romero, Mohammad Rifat Haider, Mohammad Masudur Rahman, Md Moinuddin, Md Abu Bakkar Siddique, Md Al Mamun, Tapas Mazumder, Shafique Pyarali Pirani, Richard Gordon Mathias, Shams Ei Arifeen, Dewan Md Emdadul Hoque
INTRODUCTION: Clubfoot is a common congenital birth defect, with an average prevalence of approximately 1 per 1000 live births, although this rate is reported to vary among different countries around the world. If it remains untreated, clubfoot causes permanent disability, limits educational and employment opportunities, and personal growth. The aim of this systematic review and meta-analysis is to estimate the global birth prevalence of congenital clubfoot. METHODS AND ANALYSIS: Electronic databases including MEDLINE, Cumulative Index to Nursing and Allied Health Literature (CINAHL), Embase, Global Health, Latin American & Caribben Health Science Literature (LILACS), Maternity and Infant Care, Web of Science, Scopus and Google Scholar will be searched for observational studies based on predefined criteria and only in English language from inception of database in 1946 to 10 November 2017...
March 6, 2018: BMJ Open
H T Chu, I Godin, N T Phuong, L H Nguyen, T T M Hiep, O Michel
OBJECTIVE: To evaluate the prevalence of and risk factors for allergen sensitisation among patients with chronic respiratory disease (CRD) in southern Viet Nam. DESIGN: An environmental questionnaire and skin prick tests for airborne and food allergens were administered to patients with CRD, defined as individuals with respiratory symptoms and lung function defects. RESULTS: Of 610 CRD patients, 56% had chronic obstructive pulmonary disease and 31% were asthma patients; 80% were males...
February 1, 2018: International Journal of Tuberculosis and Lung Disease
Letao Chen, Tubao Yang, Zan Zheng, Hong Yu, Hua Wang, Jiabi Qin
PURPOSE: We conducted a systematic review and meta-analysis to estimate the worldwide birth prevalence of total congenital malformations (CMs), major CMs, and specific CMs according to organs and systems classification associated with IVF/ICSI singleton pregnancies. METHODS: Unrestricted searches were conducted, with an end-date parameter of 1 June 2017, of PubMed, Embase, Google Scholar, Cochrane Libraries, and Chinese databases, to identify cohort studies assessing CMs associated with IVF/ICSI singleton pregnancies...
March 1, 2018: Archives of Gynecology and Obstetrics
Maria N Plana, Javier Zamora, Gautham Suresh, Luis Fernandez-Pineda, Shakila Thangaratinam, Andrew K Ewer
BACKGROUND: Health outcomes are improved when newborn babies with critical congenital heart defects (CCHDs) are detected before acute cardiovascular collapse. The main screening tests used to identify these babies include prenatal ultrasonography and postnatal clinical examination; however, even though both of these methods are available, a significant proportion of babies are still missed. Routine pulse oximetry has been reported as an additional screening test that can potentially improve detection of CCHD...
March 1, 2018: Cochrane Database of Systematic Reviews
Antoni Borrell
Prenatal diagnosis of birth defects initially targeted Down syndrome and neural tube defects. Screening for fetal structural anomalies has expanded to screen any relevant malformation by means of a universal ultrasound scan. Although it is now apparent that clinically relevant genetic anomalies have a similar 3% birth prevalence, prenatal diagnosis programs still focus on Down syndrome. A new comprehensive paradigm is suggested, that provides information on all three groups of genetic disorders, chromosomal, submicroscopic and single-gene, causing intellectual and neurodevelopmental disability...
February 26, 2018: Ultrasound in Obstetrics & Gynecology
Mengying Wang, Ruogu Meng, Zhuqing Wang, Dongjing Liu, Hui Huang, Chuyun Kang, Hongtian Li, Tao Wu, Siyan Zhan
Background: Oral clefts (OCs) are common human birth defects. Children with OCs in underdeveloped regions are more likely to suffer from poverty and hardship in their future lives. Here, we attempted to estimate the prevalence of OCs among live births in Gansu Province in 2008 to understand the epidemiologic pattern of the disease. Methods: A cross-sectional study was conducted from January 2008 to December 2008 in Gansu Province. The live births delivered between January and December 2008 with OCs were investigated through face-to-face questionnaire survey...
February 23, 2018: International Journal of Environmental Research and Public Health
Cai-Xia Lu, Wei Wang, Qian Wang, Xing-Yuan Liu, Yi-Qing Yang
Congenital heart defect (CHD) represents the most prevalent birth defect, and accounts for substantial morbidity and mortality in humans. Aggregating evidence demonstrates the genetic basis for CHD. However, CHD is a heterogeneous disease, and the genetic determinants underlying CHD in most patients remain unknown. In the present study, a cohort of 186 unrelated cases with CHD and 300 unrelated control individuals were recruited. The coding exons and flanking introns of the MEF2C gene, which encodes a transcription factor crucial for proper cardiovascular development, were sequenced in all study participants...
February 21, 2018: Pediatric Cardiology
Jorge Román Corona-Rivera, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Christian Peña-Padilla, Sandra Olvera-Molina, Miriam A Orozco-Martín, Diana García-Cruz, Izabel M Ríos-Flores, Brian Gabriel Gómez-Rodríguez, Gemma Rivas-Soto, J Jesús Pérez-Molina
We determined the overall prevalence of typical orofacial clefts (OFCs) and the potential risks for nonsyndromic cleft lip with or without palate (NSCL±P) in a University Hospital from west México. For the prevalence, 227 live born infants with typical OFCs were included from a total of 81,193 births occurred during the period 2009 to 2016 at the 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara (Guadalajara, Jalisco, Mexico). To evaluate potential risks, a case-control study was conducted among 420 newborns, including only those 105 patients with NSCL±P (cases), and 315 infants without birth defects (controls)...
February 19, 2018: Congenital Anomalies
Maliha Zahid, Abha Bais, Xin Tian, William Devine, Dong Ming Lee, Cyrus Yau, Daniel Sonnenberg, Lee Beerman, Omar Khalifa, Cecilia W Lo
BACKGROUND: Our prior work on congenital heart disease (CHD) with heterotaxy, a birth defect involving randomized left-right patterning, has shown an association of a high prevalence of airway ciliary dysfunction (CD; 18/43 or 42%) with increased respiratory symptoms. Furthermore, heterotaxy patients with ciliary dysfunction were shown to have more postsurgical pulmonary morbidities. These findings are likely a reflection of the common role of motile cilia in both airway clearance and left-right patterning...
2018: PloS One
Renato Assis Machado, Hercílio Martelli-Júnior, Silvia Regina de Almeida Reis, Darlene Camati Persuhn, Ricardo D Coletta
Nonsyndromic oral clefts are common congenital birth defects that exhibit variable prevalence around the world, often influenced by population-dependent genetic predisposition. Few studies have been performed with nonsyndromic cleft palate only (NSCPO), limiting the knowledge of the genetic risk factors related to this type of oral cleft. Genetic variants in golgin subfamily B member 1 (GOLGB1), a gene that is essential for normal murine palatogenesis, were analyzed in this study to establish its potential association with NSCPO risk in the Brazilian population...
February 12, 2018: Annals of Human Genetics
Tom Philipp, Jefferson Terry, Michael Feichtinger, Sandra Grillenberger, Beda Hartmann, Stefan Jirecek
OBJECTIVE: The morphologic features of embryos with full trisomy 15 are described. METHOD: A total of 1195 pregnancy losses were examined embryoscopically and cytogenetically. RESULTS: Of 1173 successfully karyotyped specimens, full trisomy 15 was diagnosed cytogenetically in 59 cases (5%). All 59 trisomy 15 embryos were diagnosed cytogenetically in the group of 962 embryonic miscarriages (6%). Trisomy 15 was not registered in 171 anembryonic or yolk sac miscarriages, and no case of full trisomy 15 was observed in 62 fetal miscarriages...
February 8, 2018: Prenatal Diagnosis
Jufen Liu, Lei Jin, Zhiwen Li, Yali Zhang, Le Zhang, Linlin Wang, Aiguo Ren
Congenital hydrocephalus (CH) was a major birth defect of the central nervous system besides neural tube defects (NTDs). Few studies have focused on both the prevalence and trend of isolated and complicated CH in China. Data were drawn from a population-based birth defects surveillance program in five rural counties in northern China from 2005 to 2015. All livebirths and pregnancy terminations at any gestational age affected with CH were recorded. The prevalence and trend of isolated and complicated CH were examined...
February 1, 2018: Metabolic Brain Disease
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