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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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222 hot topic(s) found with the query "Birth defects "

Zika Birth Defects Surveillance
CDC, 2019 Brand (Posted: Jun-19-2019 8AM)

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment.
et al. Ontario health technology assessment series 2019 19(4) 1-166 (Posted: Mar-12-2019 11AM)

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Lord Jenny et al. Lancet (London, England) 2019 Jan (Posted: Feb-05-2019 11AM)

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski Slavé et al. Lancet (London, England) 2019 Jan (Posted: Feb-05-2019 11AM)

Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome.
Cai Meiying et al. Medicine 2018 Dec 97(50) e13617 (Posted: Jan-02-2019 4PM)

January is National Birth Defects Prevention Month
CDC, January 2019 Brand (Posted: Jan-01-2019 11AM)

Gene variations linked to severity of Zika-related birth defects, small NIH study suggests
NIH, September 17, 2018 Brand (Posted: Sep-17-2018 9AM)

Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.
Luo Shiyu et al. Arquivos brasileiros de cardiologia 2018 Aug (Posted: Aug-29-2018 10AM)

Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.
Malan Valérie et al. JAMA 2018 Aug 320(6) 557-565 (Posted: Aug-22-2018 11AM)

Outcomes of Cardiac Screening in Adolescent Soccer Players.
Malhotra Aneil et al. The New England journal of medicine 2018 Aug (6) 524-534 (Posted: Aug-09-2018 8AM)

Comprehensive Genetic Screening Recommended for Nonsyndromic Cleft Lip/Palate: Even in the absence of any signs of a syndrome, patients with cleft lip/palate may still carry a mutation in a gene linked to a syndrome and should receive comprehensive genetic testing.
et al. American journal of medical genetics. Part A 2018 Jun (6) 1280-1282 (Posted: Jun-10-2018 11AM)

Genomics and Epigenomics of Congenital Heart Defects: Expert Review and Lessons Learned in Africa.
Thomford Nicholas Ekow et al. Omics : a journal of integrative biology 2018 May 22(5) 301-321 (Posted: May-17-2018 1PM)

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider Holm et al. The New England journal of medicine 2018 Apr (17) 1604-1610 (Posted: Apr-26-2018 8AM)

Have we done our last amniocentesis? Updates on cell-free DNA for Down syndrome screening.
Gray Kathryn J et al. Pediatric radiology 2018 Apr 48(4) 461-470 (Posted: Mar-21-2018 5PM)

Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.
Paige Sharon L et al. Circulation. Genomic and precision medicine 2018 Mar 11(3) e002097 (Posted: Mar-21-2018 5PM)

Testing for genetic contributions to infertility: potential clinical impact.
Krausz C et al. Expert review of molecular diagnostics 2018 Mar (Posted: Mar-21-2018 4PM)

Recognizing the Global Impact of Zika Virus Infection during Pregnancy.
Honein Margaret A et al. The New England journal of medicine 2018 Mar (11) 1055-1056 (Posted: Mar-15-2018 8AM)

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
Bailey Julia N et al. The New England journal of medicine 2018 Mar (11) 1018-1028 (Posted: Mar-15-2018 8AM)

ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
Moitra Karobi et al. International journal of molecular sciences 2017 Jul (7) (Posted: Mar-09-2018 10AM)

Clinical utility gene card: for pseudoxanthoma elasticum.
Legrand Anne et al. European journal of human genetics : EJHG 2018 Feb (Posted: Mar-09-2018 10AM)

Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.
Kasparian Nadine A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar (Posted: Mar-06-2018 11AM)

Public Health Approach to Addressing the Needs of Children Affected by Congenital Zika Syndrome.
Broussard Cheryl S et al. Pediatrics 2018 Feb (Suppl 2) S146-S153 (Posted: Mar-04-2018 6PM)

Zika and Public Health: Understanding the Epidemiology and Information Environment.
MacDonald Pia D M et al. Pediatrics 2018 Feb (Suppl 2) S137-S145 (Posted: Mar-04-2018 6PM)

World Birth Defects Day, March 3, 2018
Brand (Posted: Feb-27-2018 1PM)

Coronary Artery Abnormalities as the Cause of Sudden Cardiac Death: A 20-Year Review.
Pawlowicz Bernard et al. The American journal of forensic medicine and pathology 2018 Feb (Posted: Feb-26-2018 9AM)

March 3 is World Birth Defects Day!
A volunteer-based organization whose aim is to contribute to increase the awareness on birth defects surveillance, prevention (Posted: Feb-26-2018 9AM)

Neonatal epilepsy genetics.
Axeen Erika J T et al. Seminars in fetal & neonatal medicine 2018 Jan (Posted: Feb-20-2018 9AM)

Genetic Origins of Tetralogy of Fallot.
Morgenthau Ari et al. Cardiology in review (2) 86-92 (Posted: Feb-09-2018 1PM)

Birth Defects Potentially Related to Zika Virus Infection During Pregnancy in the United States
B Fitzgerald et al, JAMA, Jan 25, 2018 (Posted: Jan-26-2018 9AM)

Ethnic and population differences in the genetic predisposition to human obesity.
Stryjecki C et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2018 Jan (1) 62-80 (Posted: Jan-13-2018 0PM)

Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects.
Turan Sifa et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Dec (Posted: Jan-10-2018 9AM)

Genetic Risk Factors for Folate-Responsive Neural Tube Defects.
Molloy Anne M et al. Annual review of nutrition 2017 Aug 269-291 (Posted: Jan-08-2018 0PM)

Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned.
Au Kit Sing et al. American journal of medical genetics. Part A 2017 Nov (11) 3042-3057 (Posted: Jan-08-2018 0PM)

MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.
Yu Di et al. Italian journal of pediatrics 2017 Dec (1) 108 (Posted: Jan-08-2018 0PM)

Prevent Birth Defects
Brand (Posted: Jan-02-2018 11AM)

The genetics of congenitally small brains.
Duerinckx Sarah et al. Seminars in cell & developmental biology 2017 Sep (Posted: Dec-15-2017 9AM)

Health and Development at Age 19-24 Months of 19 Children Who Were Born with Microcephaly and Laboratory Evidence of Congenital Zika Virus Infection During the 2015 Zika Virus Outbreak - Brazil, 2017.
Satterfield-Nash Ashley et al. MMWR. Morbidity and mortality weekly report 2017 Dec (49) 1347-1351 (Posted: Dec-15-2017 9AM)

A single mutation in the prM protein of Zika virus contributes to fetal microcephaly.
Yuan Ling et al. Science (New York, N.Y.) 2017 Sep (Posted: Nov-17-2017 8AM)

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.
Helm Benjamin M et al. Journal of genetic counseling 2017 Oct (Posted: Nov-02-2017 9AM)

Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez Juan et al. Revista espanola de cardiologia (English ed.) 2017 Oct 70(10) 808-816 (Posted: Oct-04-2017 10AM)

Public Health Literature Review of Fragile X Syndrome.
Raspa Melissa et al. Pediatrics 2017 Jun 139(Suppl 3) S153-S171 (Posted: Aug-30-2017 9AM)

Standardization of capillary electrophoresis for diagnosis of fragile X syndrome in the Brazilian public health system.
Gigonzac Marc Alexandre Duarte et al. Electrophoresis 2016 Dec 37(23-24) 3076-3078 (Posted: Aug-23-2017 9AM)

Assessing the Fragile X Syndrome Newborn Screening Landscape.
Riley Catharine et al. Pediatrics 2017 Jun 139(Suppl 3) S207-S215 (Posted: Aug-23-2017 9AM)

Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Bailey Donald B et al. Pediatrics 2017 Jun 139(Suppl 3) S216-S225 (Posted: Aug-23-2017 9AM)

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Metcalfe Sylvia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun (Posted: Aug-05-2017 9AM)

Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease.
Geddes Gabrielle C et al. Pediatric cardiology 2017 Jul (Posted: Jul-26-2017 9AM)

Outcome after prenatal and postnatal diagnosis of complex congenital heart defects and the influence of genetic anomalies.
De Groote Katya et al. Prenatal diagnosis 2017 Jul (Posted: Jul-26-2017 9AM)

Expanded Newborn Screening: Information and Resources for the Family Physician.
Weismiller David Glenn et al. American family physician 2017 Jun 95(11) 703-709 (Posted: Jul-12-2017 11AM)

Promises, Pitfalls and Practicalities of Prenatal Whole Exome Sequencing.
Best Sunayna et al. Prenatal diagnosis 2017 Jun (Posted: Jul-03-2017 6PM)

Strategic Plan 2017-2022
National Center on Birth Defects and Developmental Disabilities, 2017 Brand (Posted: Jun-28-2017 1PM)

Genetic Disorders of Dental Development: Tales from the Bony Crypt.
Frazier-Bowers Sylvia A et al. Current osteoporosis reports 2017 Feb (1) 9-17 (Posted: Jun-13-2017 1PM)

Why we don’t know what causes most birth defects
The Conversation, June 2017 (Posted: Jun-11-2017 1PM)

CDC analysis of data from US territories finds serious birth defects in about 1 in 12 fetuses or infants of pregnant women with Zika infection in the first trimester
CDC, June 7, 2017 Brand (Posted: Jun-09-2017 8AM)

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31 (Posted: Jun-07-2017 9AM)

First trimester pregnancy loss: Clinical implications of genetic testing.
Massalska Diana et al. The journal of obstetrics and gynaecology research 2017 Jan (1) 23-29 (Posted: May-07-2017 1PM)

Genetics of recurrent miscarriage and fetal loss.
Tur-Torres M H et al. Best practice & research. Clinical obstetrics & gynaecology 2017 Mar (Posted: May-07-2017 1PM)

Genetics and Genomics of Congenital Heart Disease.
Zaidi Samir et al. Circulation research 2017 Mar (6) 923-940 (Posted: May-02-2017 1PM)

The Complex Genetic Basis of Congenital Heart Defects.
Akhirome Ehiole et al. Circulation journal : official journal of the Japanese Circulation Society 2017 Apr (5) 629-634 (Posted: May-02-2017 1PM)

A systematic review of genetic syndromes with obesity.
Kaur Y et al. Obesity reviews : an official journal of the International Association for the Study of Obesity 2017 Mar (Posted: Apr-18-2017 10AM)

Key Findings: Frequency of Trisomy Conditions using Birth Defects Tracking Programs in the United States, 2006-2010
Brand (Posted: Mar-09-2017 2PM)

Down syndrome and the complexity of genome dosage imbalance.
Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar (3) 147-163 (Posted: Mar-09-2017 2PM)

Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13: A Review.
Haug Shelly et al. JAMA pediatrics 2017 Feb (Posted: Mar-09-2017 2PM)

CDC study estimates 20-fold increase in certain types of birth defects in pregnancies with possible Zika infection compared with pre-Zika years
Brand (Posted: Mar-03-2017 8AM)

Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.
Ito Seiji et al. Current cardiology reports 2017 Mar 19(3) 24 (Posted: Mar-01-2017 10AM)

Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia.
Van Lily et al. Current opinion in psychiatry 2017 Feb (Posted: Feb-27-2017 9AM)

Genetics of Congenital Heart Disease: Past and Present.
Muntean Iolanda et al. Biochemical genetics 2016 Nov (Posted: Feb-07-2017 9AM)

A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.
Tzeng Ching-Cherng et al. Clinical genetics 2017 Jan (Posted: Feb-01-2017 11AM)

Plan Ahead: Folic Acid Can Help Prevent Certain Birth Defects
(Posted: Jan-12-2017 3PM)

A Family’s Shared Defect Sheds Light on the Human Genome
N Angier, New York Times, January 9, 2017 (Posted: Jan-09-2017 8PM)

A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.
Alfaro Arenas Ramona et al. Journal of genetic counseling 2016 Oct (Posted: Oct-12-2016 11AM)

Risk factors for Down syndrome.
Coppedè Fabio et al. Archives of toxicology 2016 Sep (Posted: Oct-03-2016 10AM)

Importance of a specialty clinic for individuals with fragile X syndrome.
Visootsak Jeannie et al. American journal of medical genetics. Part A 2016 Sep (Posted: Sep-21-2016 10AM)

Zika Virus Infection in Pregnancy, Microcephaly, and Maternal and Fetal Health: What We Think, What We Know, and What We Think We Know.
Alvarado Maria Gabriela et al. Archives of pathology & laboratory medicine 2016 Sep (Posted: Sep-20-2016 0PM)

Genetics of Male Infertility.
Neto Filipe Tenorio Lira et al. Current urology reports 2016 Oct (10) 70 (Posted: Aug-21-2016 2PM)

Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.
Santoro Stephanie L et al. The Journal of pediatrics 2016 Apr 171262-8.e1-2 (Posted: Aug-17-2016 9AM)

Prevention and Periodontal Treatment in Down Syndrome Patients: A Systematic Review.
Ferreira Rafael et al. PloS one 2016 (6) e0158339 (Posted: Aug-13-2016 9AM)

The global threat of Zika virus to pregnancy: epidemiology, clinical perspectives, mechanisms, and impact.
Boeuf Phillipe et al. BMC medicine 2016 (1) 112 (Posted: Aug-08-2016 10AM)

Severe birth defects not as lethal as docs once said: Study
US News, July 26, 2016 (Posted: Jul-28-2016 7PM)

The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.
Grigsby Jim et al. The Clinical neuropsychologist 2016 Aug (6) 815-33 (Posted: Jul-18-2016 10AM)

Validation of a method for noninvasive prenatal testing for fetal aneuploidies risk and considerations for its introduction in the Public Health System.
Gerundino Francesca et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 May 1-7 (Posted: Jun-01-2016 0PM)

Direct-to-consumer genetic testing: Perspectives on its value in healthcare.
Delaney S K et al. Clinical pharmacology and therapeutics 2016 Feb 99(2) 146-8 (Posted: Jun-01-2016 0PM)

Neurodevelopmental disorders: Risks of Zika virus during the first trimester of pregnancy.
Molnár Zoltán et al. Nature reviews. Neurology 2016 May (Posted: May-31-2016 0PM)

The genetics of bone mass and susceptibility to bone diseases.
Karasik David et al. Nature reviews. Rheumatology 2016 Apr (Posted: May-17-2016 7AM)

Non Invasive Prenatal Screening or Advanced Diagnostic Testing: Caveat Emptor.
Evans Mark I et al. American journal of obstetrics and gynecology 2016 Apr (Posted: May-04-2016 8AM)

Teratogenic effects of the Zika virus and the role of the placenta.
Adibi Jennifer J et al. Lancet (London, England) 2016 Mar (Posted: Apr-01-2016 2PM)

Zika Virus Associated with Microcephaly.
Mlakar Jernej et al. The New England journal of medicine 2016 Mar (10) 951-8 (Posted: Apr-01-2016 2PM)

Zika Virus and Microcephaly.
Rubin Eric J et al. The New England journal of medicine 2016 Mar (10) 984-5 (Posted: Apr-01-2016 2PM)

Detection and sequencing of Zika virus from amniotic fluid of fetuses with microcephaly in Brazil: a case study.
Calvet Guilherme et al. The Lancet. Infectious diseases 2016 Feb (Posted: Apr-01-2016 2PM)

Gene-Environment Interactions and the Etiology of Birth Defects.
Krauss Robert S et al. Current topics in developmental biology 2016 569-80 (Posted: Mar-26-2016 5PM)

Retrospective Study of Obesity in Children with Down Syndrome.
Basil Janet S et al. The Journal of pediatrics 2016 Mar (Posted: Mar-22-2016 8AM)

Sudden Cardiac Death in the Young.
Ackerman Michael et al. Circulation 2016 Mar (10) 1006-26 (Posted: Mar-10-2016 7AM)

CDC Concludes Zika Causes Microcephaly and Other Birth Defects
Brand (Posted: Mar-10-2016 0AM)

Zika Virus and Birth Defects — Reviewing the Evidence for Causality
SA Rasmussen et al. NEJM, April 13, 2016 (Posted: Mar-10-2016 0AM)

Practice Bulletin No. 163: Screening for Fetal Aneuploidy.
et al. Obstetrics and gynecology 2016 Mar (Posted: Mar-09-2016 9AM)

Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21.
Lee Da Eun et al. The Journal of molecular diagnostics : JMD 2016 Mar (Posted: Mar-09-2016 8AM)

Prenatal Diagnosis of Trisomy 21, 18 and 13 by Quantitative Pyrosequencing of Segmental Duplications.
Tong Huan et al. Clinical genetics 2016 Mar (Posted: Mar-09-2016 8AM)

Trisomy 13: Changing Perspectives.
Macias Gabriel et al. Neonatal network : NN 2016 (1) 31-6 (Posted: Mar-09-2016 8AM)

March 3 is World Birth Defects Day!
Brand (Posted: Mar-02-2016 4PM)

Announcement: World Birth Defects Day — March 3, 2016
MMWR, February 26, 2016 Brand (Posted: Feb-25-2016 1PM)

What causes birth defects?
CDC VIDEO (Posted: Feb-17-2016 0PM)

The Genetics of Soft Connective Tissue Disorders.
Vanakker Olivier et al. Annual review of genomics and human genetics 2015 229-55 (Posted: Feb-15-2016 2PM)

Psychiatric disorders in Ehlers-Danlos syndrome are frequent, diverse and strongly associated with pain.
Hershenfeld Samantha Aliza et al. Rheumatology international 2015 Oct (Posted: Feb-15-2016 2PM)

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Kosho Tomoki et al. Pediatrics international : official journal of the Japan Pediatric Society 2016 Feb (2) 88-99 (Posted: Feb-15-2016 2PM)

Understanding Genetics and Pediatric Cardiac Health.
Butler Mary R et al. Journal of pediatric nursing (1) 3-10 (Posted: Feb-08-2016 8PM)

Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool.
Jongmans Marjolijn C J et al. European journal of medical genetics 2016 Jan (Posted: Feb-03-2016 3PM)

Healthy Pregnancy: Living My PACT
Brand (Posted: Jan-27-2016 11AM)

Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.
Lim Grace X Y et al. The Journal of molecular diagnostics : JMD 2015 May 17(3) 302-14 (Posted: Jan-20-2016 11AM)

Diagnostic utility of microarray testing in pregnancy loss.
Rosenfeld J A et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 Oct (4) 478-86 (Posted: Jan-19-2016 1PM)

Zika and microcephaly: causation, correlation, or coincidence?
Tetro Jason A et al. Microbes and infection / Institut Pasteur 2016 Jan (Posted: Jan-18-2016 2PM)

Zika virus outbreaks in Asia and South America.
Brown Carolyn et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2015 Dec (Posted: Jan-18-2016 2PM)

What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH).
Morris-Rosendahl Deborah J et al. Molecular and cellular probes 2015 Oct (5) 271-81 (Posted: Jan-17-2016 1PM)

Genomic variants and variations in malformations of cortical development.
Jamuar Saumya S et al. Pediatric clinics of North America 2015 Jun (3) 571-85 (Posted: Jan-17-2016 1PM)

Genetic disorders associated with postnatal microcephaly.
Seltzer Laurie E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2014 Jun (2) 140-55 (Posted: Jan-17-2016 1PM)

World Birth Defects Day, March 3, 2016
International Clearinghouse for Birth Defects (Posted: Jan-14-2016 8AM)

Diagnostic impact of genetic testing in hypertrophic cardiomyopathy: The story of two families.
Lorca Rebeca et al. International journal of cardiology 2015 Dec 205161-162 (Posted: Jan-13-2016 2PM)

National Birth Defects Prevention Month
Brand (Posted: Jan-12-2016 3PM)

Birth Defects Prevention Month 2016
National Birth Defects Prevention Network, January 2016 (Posted: Jan-12-2016 3PM)

Plan Ahead: Folic Acid Can Help Prevent Certain Birth Defects
Brand (Posted: Jan-11-2016 1PM)

Overview of the impact of noninvasive prenatal testing on diagnostic procedures.
Warsof Steven L et al. Prenatal diagnosis 2015 Oct (10) 972-9 (Posted: Jan-08-2016 0PM)

Real Stories from Real Families Living with Birth Defects
Brand (Posted: Jan-06-2016 5PM)

Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
Chandrasekara C H W M R Bhagya et al. PloS one 2015 10(12) e0145537 (Posted: Dec-29-2015 11AM)

A diagnostic approach for cerebral palsy in the genomic era.
Lee Ryan W et al. Neuromolecular medicine 2014 Dec (4) 821-44 (Posted: Dec-10-2015 5PM)

New Perspectives for the Rescue of Cognitive Disability in Down Syndrome.
Bartesaghi Renata et al. The Journal of neuroscience : the official journal of the Society for Neuroscience 2015 Oct (41) 13843-52 (Posted: Oct-29-2015 8PM)

Consanguinity as an Adjunct Diagnostic Tool.
Srivastava Priyanka et al. Indian journal of pediatrics 2015 Jul (Posted: Oct-15-2015 8AM)

Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity.
Sabbagh Heba J et al. Saudi medical journal 2015 Sep (9) 1076-83 (Posted: Oct-15-2015 8AM)

The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome.
Niarchou Maria et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015 Sep (Posted: Oct-13-2015 1PM)

Paternal transmission of MTHFD1 G1958A variant predisposes to neural tube defects in the offspring.
Prasoona Kattekola R et al. Developmental medicine and child neurology 2015 Sep (Posted: Oct-05-2015 9AM)

Polymorphisms in maternal folate pathway genes interact with arsenic in drinking water to influence risk of myelomeningocele.
Mazumdar Maitreyi et al. Birth defects research. Part A, Clinical and molecular teratology 2015 Sep (9) 754-62 (Posted: Oct-05-2015 9AM)

Nutri-epigenomic Studies Related to Neural Tube Defects: Does Folate Affect Neural Tube Closure Via Changes in DNA Methylation?
Rochtus Anne et al. Mini reviews in medicinal chemistry 2015 (13) 1095-102 (Posted: Oct-05-2015 9AM)

Decision aids that support decisions about prenatal testing for Down syndrome: an environmental scan.
Leiva Portocarrero Maria Esther et al. BMC medical informatics and decision making 15(1) 76 (Posted: Sep-30-2015 2PM)

The wide-ranging clinical implications of the Short Telomere Syndromes.
Barbaro Pasquale et al. Intern Med J 2015 Aug 6. (Posted: Sep-20-2015 0PM)

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
Srebniak Malgorzata I et al. Eur. J. Hum. Genet. 2015 Sep 2. (Posted: Sep-09-2015 11AM)

Informed choice about Down syndrome screening - Effect of an eHealth tool: A randomized controlled trial.
Skjøth Mette Maria et al. Acta Obstet Gynecol Scand 2015 Aug 31. (Posted: Sep-09-2015 11AM)

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC)Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC).
Eur. Heart J. 2015 Aug 29. (Posted: Sep-02-2015 1PM)

Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience.
Zhou Qiyin et al. Prenat. Diagn. 2014 Nov 34(11) 1061-5 (Posted: Sep-02-2015 1PM)

Detection of Fetal Copy Number Variations by Noninvasive Prenatal Testing for Common Aneuploidies.
Li Ru et al. Ultrasound Obstet Gynecol 2015 May 29. (Posted: Sep-02-2015 1PM)

Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: independent clinical experience of a tertiary referral center.
Neufeld-Kaiser Whitney A et al. BMC Med 2015 Jun 2. 13(1) 129 (Posted: Sep-02-2015 1PM)

Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
Wapner Ronald J et al. Am. J. Obstet. Gynecol. 2015 Mar (3) 332.e1-9 (Posted: Sep-02-2015 1PM)

Early fetal anatomy screening: who, what, when and why?
Van Mieghem Tim et al. Curr. Opin. Obstet. Gynecol. 2015 Apr (2) 143-50 (Posted: Sep-02-2015 1PM)

Detection of Fetal Subchromosomal Abnormalities by Sequencing Circulating Cell-Free DNA from Maternal Plasma.
Zhao Chen et al. Clin. Chem. 2015 Feb 20. (Posted: Sep-02-2015 1PM)

An update on current prenatal testing options: first trimester and noninvasive prenatal testing.
Latendresse Gwen et al. J Midwifery Womens Health 2015 Jan (1) 24-36 (Posted: Sep-02-2015 1PM)

MicroRNAs as potential biomarkers for noninvasive detection of fetal trisomy 21.
Lim Ji Hyae et al. J. Assist. Reprod. Genet. 2015 Mar 8. (Posted: Sep-02-2015 1PM)

The Genetics of Cardiovascular Disease in Canadian and International Aboriginal Populations.
Arbour Laura et al. Can J Cardiol 2015 Sep (9) 1094-115 (Posted: Sep-01-2015 2PM)

Association analysis identifies new risk loci for congenital heart disease in Chinese populations.
Lin Yuan et al. Nat Commun 2015 8082 (Posted: Aug-21-2015 10AM)

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.
Peprah Emmanuel K et al. Glob Heart 2015 Aug 11. (Posted: Aug-19-2015 0PM)

Genome-wide microRNA expression profiling in placentas of fetuses with Down syndrome.
Lim J H et al. Placenta 2015 Mar (3) 322-8 (Posted: Aug-17-2015 2PM)

National down syndrome patient database: Insights from the development of a multi-center registry study.
Lavigne Jenifer et al. Am. J. Med. Genet. A 2015 Aug 6. (Posted: Aug-17-2015 2PM)

Information and knowledge about Down syndrome among women and partners after first trimester combined testing.
Ternby Ellen et al. Acta Obstet Gynecol Scand 2015 Mar (3) 329-32 (Posted: Aug-17-2015 2PM)

Children with down syndrome are high-risk for severe respiratory syncytial virus disease.
Stagliano David R et al. J. Pediatr. 2015 Mar (3) 703-709.e2 (Posted: Aug-17-2015 2PM)

Enhancing oral and written language for adolescents and young adults with down syndrome.
Pelatti Christina Yeager et al. Semin Speech Lang 2015 Feb (1) 50-9 (Posted: Aug-17-2015 2PM)

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.
Sun RongRong et al. Cell Biochem. Biophys. 2015 Feb 1. (Posted: Aug-17-2015 2PM)

Sleep-disordered breathing in Down syndrome.
Lal Chitra et al. Chest 2015 Feb (2) 570-9 (Posted: Aug-17-2015 2PM)

Screening for Hypothyroidism in Down Syndrome Using the Capillary Thyroid Stimulating Hormone Method.
McGowan Sheena et al. J. Pediatr. 2015 Jan 31. (Posted: Aug-17-2015 2PM)

Incidence of febrile seizure in patients with Down syndrome.
Shimakawa Shuichi et al. Pediatr Int 2015 Feb 13. (Posted: Aug-17-2015 2PM)

Accelerated epigenetic aging in Down syndrome.
Horvath Steve et al. Aging Cell 2015 Feb 9. (Posted: Aug-17-2015 2PM)

NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
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Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.
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Cholesterol levels in fragile X syndrome.
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Uncovering the evidence for behavioral interventions with individuals with fragile X syndrome: a systematic review.
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Treatment of the psychiatric problems associated with fragile X syndrome.
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Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
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Monogenic and chromosomal causes of isolated speech and language impairment.
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Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders.
Ross Lainie Friedman et al. Pediatr. Clin. North Am. 2015 Jun (3) 787-798 (Posted: Jul-02-2015 1PM)

Findings from the National Birth Defects Prevention Study: Interpretation and translation for the clinician.
Alwan Sura et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jun 25. (Posted: Jul-01-2015 2PM)

Genetics and Genetic Testing in Congenital Heart Disease.
Cowan Jason R et al. Clin Perinatol 2015 Jun (2) 373-393 (Posted: Jun-19-2015 8AM)

Transcriptional regulator PRDM12 is essential for human pain perception.
Chen Ya-Chun et al. Nat. Genet. 2015 May 25. (Posted: May-26-2015 3PM)

Copy-number variation and false positive prenatal aneuploidy screening results.
Snyder Matthew W et al. N. Engl. J. Med. 2015 Apr 23. (17) 1639-45 (Posted: May-26-2015 1PM)

The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos.
Fan Junmei et al. Reprod. Biomed. Online 2015 Apr 9. (Posted: May-26-2015 1PM)

Cerebral Palsy - Causes, pathways, and the role of genetic variants.
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Genomic microarray in fetuses with increased nuchal translucency and normal karyotype - a systematic review and meta-analysis.
Grande Maribel et al. Ultrasound Obstet Gynecol 2015 Apr 20. (Posted: May-26-2015 1PM)

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang Ren-Qiang et al. BMC Genet. 2014 74 (Posted: May-16-2015 7AM)

The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study.
Achelrod Dmitrij et al. Orphanet J Rare Dis 2014 90 (Posted: May-16-2015 7AM)

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.
Xiao Yan et al. Clin. Chim. Acta 2015 Jan 15. 58-60 (Posted: May-16-2015 7AM)

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.
Pitcher Alex et al. Am. Heart J. 2015 May (5) 605-12 (Posted: May-16-2015 7AM)

Aortic Involvement in Pediatric Marfan syndrome: A Review.
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Marfan syndrome is associated with recurrent dissection of the dissected aorta.
Ptaszek Leon M et al. Ann. Thorac. Surg. 2015 May (5) 1616-23 (Posted: May-16-2015 7AM)

Molecular pathogenesis of Marfan syndrome.
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Marfan syndrome, inherited aortopathies and exercise: What is the right answer?
Cheng Andrew et al. Heart 2015 May 15. (10) 752-757 (Posted: May-16-2015 7AM)

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
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Estimation of Detection Rates of Aneuploidy in High-Risk Pregnancy Using an Approach Based on Nuchal Translucency and Non-Invasive Prenatal Testing: A Cohort Study.
Khalil Asma et al. Fetal. Diagn. Ther. 2015 Apr 30. (Posted: May-06-2015 10AM)

mRNA deadenylation and telomere disease.
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Neural tube defects.
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Shangguan Shaofang et al. Birth Defects Res. Part A Clin. Mol. Teratol. 2015 Jan (1) 37-44 (Posted: May-01-2015 0PM)

The outcome and course of pregnancies complicated with fetal neural tube defects.
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The role of telomeres and vitamin D in cellular aging and age-related diseases.
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Folic acid supplementation in pregnancy and implications in health and disease.
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Considering Maternal Dietary Modulators for Epigenetic Regulation and Programming of the Fetal Epigenome.
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Primary prevention of congenital anomalies: recommendable, feasible and achievable.
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WHO Guideline: Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects
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Sudden cardiac death.
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2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
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Health problems, complex life, and consanguinity among ethnic minority Muslim women in Nepal.
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The effect of consanguinity on neonatal outcomes and health.
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Lambert Nathaniel et al. Lancet 2015 Jan 7. (Posted: Mar-05-2015 0PM) blog on World Birth Defects Day
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Gene-Gene Interaction Among WNT Genes for Oral Cleft in Trios.
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Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
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DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects.
Rochtus Anne et al. Epigenetics 2015 Jan 7. 1-10 (Posted: Feb-27-2015 11AM)

Genetic and nongenetic etiology of nonsyndromic anorectal malformations: a systematic review.
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Genome-wide association analyses identify variants in developmental genes associated with hypospadias.
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International Clearinghouse for Birth Defects Surveillance and Research
(Posted: Feb-27-2015 11AM)

CDC information: Did You Know? on World Birth Defects Day
Brand (Posted: Feb-25-2015 0PM)

Announcement: World Birth Defects Day ? March 3, 2015
MMWR February 27, 2015 / 64(07);196-196 Brand (Posted: Feb-25-2015 0PM)

CDC information: Feature introduces the inaugural World Birth Defects Day: March 3, 2015
Brand (Posted: Feb-25-2015 0PM)

CDC information: Center for Global Health's Global Voices blog, "March 3 Marks the First Annual World Birth Defects Day"
Brand (Posted: Feb-25-2015 0PM)

CDC Information: Optimal Blood Folate Concentrations for the Prevention of Neural Tube Defects
WHO Guideline at-a-glance Brand (Posted: Feb-25-2015 0PM)

Opioid pain medications used early in pregnancy might increase risk of some birth defects
Brand (Posted: Feb-25-2015 0PM)

New advances of preimplantation and prenatal genetic screening and noninvasive testing as a potential predictor of health status of babies.
Milachich Tanya et al. Biomed Res Int 2014 306505 (Posted: Feb-23-2015 10AM)

Zika Virus
Brand (Posted: Jan-11-2014 11AM)

Discovered in the Zika forest, Uganda, in 1947, Zika virus is a member of the flavivirus family. Other flaviviruses include those that cause dengue, yellow fever, and West Nile fever. Like its relatives, Zika virus is primarily transmitted to humans through the bite of infected Aedes aegypti mosquitoes. Zika virus can be transmitted from an infected pregnant woman to her baby during pregnancy and can result in serious birth defects, including microcephaly. Less commonly, the virus can be spread through intercourse or blood transfusion.

Fanconi Anemia
From NHLBI health topic site Brand (Posted: Jan-11-2014 11AM)

What Is Fanconi anemia (fan-KO-nee uh-NEE-me-uh), or FA, is a rare, inherited blood disorder that leads to bone marrow failure. The disorder also is called Fanconi?s anemia. FA prevents your bone marrow from making enough new blood cells for your body to work normally. FA also can cause your bone marrow to make many faulty blood cells. This can lead to serious health problems, such as leukemia (a type of blood cancer). Although FA is a blood disorder, it also can affect many of your body's organs, tissues, and systems. Children who inherit FA are at higher risk of being born with birth defects. FA also increases the risk of some cancers and other serious health problems. FA is different from Fanconi syndrome. Fanconi syndrome affects the kidneys. It's a rare and serious condition that mostly affects children. Children who have Fanconi syndrome pass large amounts of key nutrients and chemicals through their urine. These children may have serious health and developmental problems. Bone Marrow and Blood Bone marrow is the spongy tissue inside the large bones of your body. Healthy bone marrow contains stem cells that develop into the three types of blood cells that the body needs: ?Red blood cells, which carry oxygen to all parts of your body. Red blood cells also remove carbon dioxide (a waste product) from your body's cells and carry it to the lungs to be exhaled. ?White blood cells, which help fight infections. ?Platelets (PLATE-lets), which help your blood clot. It's normal for blood cells to die. The lifespan of red blood cells is about 120 days. White blood cells live less than 1 day. Platelets live about 6 days. As a result, your bone marrow must constantly make new blood cells. If your bone marrow can't make enough new blood cells to replace the ones that die, serious health problems can occur. Fanconi Anemia and Your Body FA is one of many types of anemia. The term "anemia" usually refers to a condition in which the blood has a lower than normal number of red blood cells. FA is a type of aplastic anemia. In aplastic anemia, the bone marrow stops making or doesn't make enough of all three types of blood cells. Low levels of the three types of blood cells can harm many of the body's organs, tissues, and systems. With too few red blood cells, your body's tissues won't get enough oxygen to work well. With too few white blood cells, your body may have problems fighting infections. This can make you sick more often and make infections worse. With too few platelets, your blood can?t clot normally. As a result, you may have bleeding problems. Outlook People who have FA have a greater risk than other people for some cancers. About 10 percent of people who have FA develop leukemia. People who have FA and survive to adulthood are much more likely than others to develop cancerous solid tumors. The risk of solid tumors increases with age in people who have FA. These tumors can develop in the mouth, tongue, throat, or esophagus (eh-SOF-ah-gus). (The esophagus is the passage leading from the mouth to the stomach.) Women who have FA are at much greater risk than other women of developing tumors in the reproductive organs. FA is an unpredictable disease. The average lifespan for people who have FA is between 20 and 30 years. The most common causes of death related to FA are bone marrow failure, leukemia, and solid tumors. Advances in care and treatment have improved the chances of surviving longer with FA. Blood and marrow stem cell transplant is the major advance in treatment. However, even with this treatment, the risk of some cancers is greater in people who have FA.

Heart Valve Disease
From NHLBI health topic site Brand (Posted: Jan-01-2014 0AM)

What Is Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral, and aortic valves. These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. Healthy Heart Cross-Section Figure 1 shows the location of the heart in the body. Figure B shows a cross-section of a healthy heart and its inside structures. The blue arrow shows the direction in which oxygen-poor blood flows through the heart to the lungs. The red arrow shows the direction in which oxygen-rich blood flows from the lungs into the heart and then out to the body. Figure 1 shows the location of the heart in the body. Figure B shows a cross-section of a healthy heart and its inside structures. The blue arrow shows the direction in which oxygen-poor blood flows through the heart to the lungs. The red arrow shows the direction in which oxygen-rich blood flows from the lungs into the heart and then out to the body. Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood. Overview How the Heart Valves Work At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). The mitral and tricuspid valves are located at the bottom of these chambers. As the blood builds up in the atria, these valves open to allow blood to flow into the ventricles (the heart's two lower chambers). After a brief delay, as the ventricles begin to contract, the mitral and tricuspid valves shut tightly. This prevents blood from flowing back into the atria. As the ventricles contract, they pump blood through the pulmonary and aortic valves. The pulmonary valve opens to allow blood to flow from the right ventricle into the pulmonary artery. This artery carries blood to the lungs to get oxygen. At the same time, the aortic valve opens to allow blood to flow from the left ventricle into the aorta. The aorta carries oxygen-rich blood to the body. As the ventricles relax, the pulmonary and aortic valves shut tightly. This prevents blood from flowing back into the ventricles. For more information about how the heart pumps blood and detailed animations, go to the Health Topics How the Heart Works article. Heart Valve Problems Heart valves can have three basic kinds of problems: regurgitation, stenosis, and atresia. Regurgitation, or backflow, occurs if a valve doesn't close tightly. Blood leaks back into the chambers rather than flowing forward through the heart or into an artery. In the United States, backflow most often is due to prolapse. "Prolapse" is when the flaps of the valve flop or bulge back into an upper heart chamber during a heartbeat. Prolapse mainly affects the mitral valve. Stenosis occurs if the flaps of a valve thicken, stiffen, or fuse together. This prevents the heart valve from fully opening. As a result, not enough blood flows through the valve. Some valves can have both stenosis and backflow problems. Atresia occurs if a heart valve lacks an opening for blood to pass through. Some people are born with heart valve disease, while others acquire it later in life. Heart valve disease that develops before birth is called congenital heart valve disease. Congenital heart valve disease can occur alone or with other congenital heart defects. Congenital heart valve disease often involves pulmonary or aortic valves that don't form properly. These valves may not have enough tissue flaps, they may be the wrong size or shape, or they may lack an opening through which blood can flow properly. Acquired heart valve disease usually involves aortic or mitral valves. Although the valves are normal at first, problems develop over time. Both congenital and acquired heart valve disease can cause stenosis or backflow. Outlook Many people have heart valve defects or disease but don't have symptoms. For some people, the condition mostly stays the same throughout their lives and doesn't cause any problems. For other people, heart valve disease slowly worsens until symptoms develop. If not treated, advanced heart valve disease can cause heart failure, stroke, blood clots, or death due to sudden cardiac arrest (SCA). Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can relieve many of its symptoms and complications. These treatments also can lower your risk of developing a life-threatening condition, such as stroke or SCA. Eventually, you may need to have your faulty heart valve repaired or replaced. Some types of congenital heart valve disease are so severe that the valve is repaired or replaced during infancy, childhood, or even before birth. Other types may not cause problems until middle-age or older, if at all. Other Names ?Aortic regurgitation ?Aortic stenosis ?Aortic sclerosis ?Aortic valve disease ?Bicuspid aortic valve ?Congenital heart defect ?Congenital valve disease ?Mitral regurgitation ?Mitral stenosis ?Mitral valve disease ?Mitral valve prolapse ?Pulmonic regurgitation ?Pulmonic stenosis ?Pulmonic valve disease ?Tricuspid regurgitation ?Tricuspid stenosis ?Tricuspid valve disease

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