This document discusses newborn screening programs, which screen babies for treatable genetic and metabolic conditions. It outlines the seven components of newborn screening, including education, screening, diagnosis, conveying results, follow up, management, and evaluation. The document discusses the history and development of newborn screening, beginning with Robert Guthrie's work developing a test for phenylketonuria in the 1960s. It also reviews current screening methods, conditions screened for, and challenges to implementing nationwide newborn screening in India.
Leukemias are the most common cancers in children, with acute lymphoblastic leukemia (ALL) accounting for 73% of cases and acute myeloid leukemia (AML) accounting for 18% of cases. ALL peaks between ages 2-5 years and accounts for 25-30% of all childhood cancers. Treatment involves induction, consolidation/intensification, and continuation phases using chemotherapy protocols over 2-3 years. Supportive care and risk stratification are important for managing treatment and prognosis.
Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin. There are two main types: alpha thalassemia affects alpha globin chain production and beta thalassemia affects beta globin chain production. Symptoms range from mild anemia to severe anemia requiring regular blood transfusions depending on which genes are affected. Treatment involves lifelong blood transfusions combined with iron chelation therapy to prevent iron overload, and potentially splenectomy or bone marrow transplant.
The document discusses inborn errors of metabolism (IEM). It describes IEM as metabolic disorders caused by enzyme deficiencies that disrupt biochemical reactions in the body. IEM are divided into subgroups that affect amino acid, carbohydrate, lipid, and other metabolisms. Symptoms seen in affected individuals can include lethargy, vomiting, seizures, skin abnormalities, organomegaly, and neurological or developmental issues. Diagnosis involves laboratory tests of blood and urine to identify specific metabolic abnormalities. Treatment aims to correct acute issues like acidosis or hypoglycemia and provide enzyme replacement or precursors to bypass the metabolic block.
This document provides an overview of newborn screening, which tests newborns for genetic and metabolic disorders. It discusses the purpose of newborn screening to detect conditions early before symptoms present, allowing for immediate treatment. Conditions screened vary by location but can include phenylketonuria, congenital hypothyroidism, galactosemia, and others. Proper blood collection from the heel between 24-48 hours and use of filter paper cards is described. Laboratory tests for conditions include mass spectrometry and chromatography. Early detection and treatment prevents intellectual disabilities and death for many disorders.
Failure to thrive (FTT) is defined as a lack of appropriate weight gain or a persistent weight loss from a child's normal growth curve. It can be classified as organic, caused by medical issues, or non-organic, caused by psychosocial factors. A thorough history, physical exam, and lab tests are needed to determine the etiology and develop an appropriate treatment plan focused on nutritional rehabilitation and addressing the underlying cause. Prognosis depends on the etiology, with FTT in the first year generally having a poorer outcome. Prevention efforts include exclusive breastfeeding, parental education, and early detection and intervention.
Congenital anomalies include structural, functional, and biochemical disorders present at birth. The global incidence is 30-70 per 1000 live births, and in India it is 2.5-4%. Genetic and environmental factors can cause congenital anomalies. Genetic counseling provides information to families about genetic disorders and helps prevent transmission of hereditary conditions. Measures to prevent congenital anomalies include promoting pre-pregnancy health, immunizations, avoiding teratogens and infections during pregnancy, and prenatal screening and diagnosis.
This document discusses newborn screening programs, which screen babies for treatable genetic and metabolic conditions. It outlines the seven components of newborn screening, including education, screening, diagnosis, conveying results, follow up, management, and evaluation. The document discusses the history and development of newborn screening, beginning with Robert Guthrie's work developing a test for phenylketonuria in the 1960s. It also reviews current screening methods, conditions screened for, and challenges to implementing nationwide newborn screening in India.
Leukemias are the most common cancers in children, with acute lymphoblastic leukemia (ALL) accounting for 73% of cases and acute myeloid leukemia (AML) accounting for 18% of cases. ALL peaks between ages 2-5 years and accounts for 25-30% of all childhood cancers. Treatment involves induction, consolidation/intensification, and continuation phases using chemotherapy protocols over 2-3 years. Supportive care and risk stratification are important for managing treatment and prognosis.
Thalassemia is a genetic blood disorder characterized by defective or reduced hemoglobin. There are two main types: alpha thalassemia affects alpha globin chain production and beta thalassemia affects beta globin chain production. Symptoms range from mild anemia to severe anemia requiring regular blood transfusions depending on which genes are affected. Treatment involves lifelong blood transfusions combined with iron chelation therapy to prevent iron overload, and potentially splenectomy or bone marrow transplant.
The document discusses inborn errors of metabolism (IEM). It describes IEM as metabolic disorders caused by enzyme deficiencies that disrupt biochemical reactions in the body. IEM are divided into subgroups that affect amino acid, carbohydrate, lipid, and other metabolisms. Symptoms seen in affected individuals can include lethargy, vomiting, seizures, skin abnormalities, organomegaly, and neurological or developmental issues. Diagnosis involves laboratory tests of blood and urine to identify specific metabolic abnormalities. Treatment aims to correct acute issues like acidosis or hypoglycemia and provide enzyme replacement or precursors to bypass the metabolic block.
This document provides an overview of newborn screening, which tests newborns for genetic and metabolic disorders. It discusses the purpose of newborn screening to detect conditions early before symptoms present, allowing for immediate treatment. Conditions screened vary by location but can include phenylketonuria, congenital hypothyroidism, galactosemia, and others. Proper blood collection from the heel between 24-48 hours and use of filter paper cards is described. Laboratory tests for conditions include mass spectrometry and chromatography. Early detection and treatment prevents intellectual disabilities and death for many disorders.
Failure to thrive (FTT) is defined as a lack of appropriate weight gain or a persistent weight loss from a child's normal growth curve. It can be classified as organic, caused by medical issues, or non-organic, caused by psychosocial factors. A thorough history, physical exam, and lab tests are needed to determine the etiology and develop an appropriate treatment plan focused on nutritional rehabilitation and addressing the underlying cause. Prognosis depends on the etiology, with FTT in the first year generally having a poorer outcome. Prevention efforts include exclusive breastfeeding, parental education, and early detection and intervention.
Congenital anomalies include structural, functional, and biochemical disorders present at birth. The global incidence is 30-70 per 1000 live births, and in India it is 2.5-4%. Genetic and environmental factors can cause congenital anomalies. Genetic counseling provides information to families about genetic disorders and helps prevent transmission of hereditary conditions. Measures to prevent congenital anomalies include promoting pre-pregnancy health, immunizations, avoiding teratogens and infections during pregnancy, and prenatal screening and diagnosis.
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
This document discusses various inborn errors of metabolism including phenylketonuria, alkaptonuria, homocystinuria, galactosemia, glycogen storage diseases, mucopolysaccharidoses, Gaucher disease, Niemann-Pick disease, cystic fibrosis, and Wilson's disease. It describes the genetic defects, clinical features, diagnostic tests, and morphological findings for each condition. These hereditary biochemical disorders result from mutations that compromise the function of enzymes or other proteins involved in metabolic pathways.
The document discusses growth hormone (GH) deficiency. It notes that GH is produced by the pituitary and regulates growth. GH secretion peaks during puberty then declines with age. Causes of GH deficiency include genetic factors, tumors, injuries and infections. Clinical features include short stature, delayed development, and body proportions differences. Evaluation involves assessing growth rates and examinations. Treatment is usually GH injections, aimed at restoring normal growth rates. Response is monitored through height velocity measurements.
baby born before 37 weeks of gestation calculating from the first day of last menstural period is defined as preterm baby/ premature baby.
These babies are known as preemies
Defines Exchange Transfusion, the Aims, and indications of Exchange Transfusion. Articles required, choice of donor, the procedure of exchange transfusion. Post transfusion care and the complications that can occur due to exchange transfusion. The Ppt also describes the special considerations during the procedure.
Thalassemia is a blood disorder caused by a genetic defect that results in inadequate hemoglobin production. It is most common in populations from the Mediterranean, Middle East, Africa, and Asia. There are two main types - alpha and beta thalassemia. Management involves regular blood transfusions to correct anemia, along with iron chelation therapy to prevent iron overload. Nursing care focuses on monitoring for complications, providing transfusions and chelation therapy, and educating patients and their families.
This document discusses iron deficiency anemia (IDA) in children. It begins by defining anemia and listing the WHO thresholds used to define anemia in different age groups. It then covers the etiological, morphological and pathophysiological classifications of anemia. Under the etiological classification, it describes anemias caused by blood loss, impaired red blood cell formation, and excessive red blood cell destruction. It also discusses the clinical features, laboratory diagnosis, treatment, complications and prevention of IDA in children.
Iron-deficiency anemia is the most common nutritional disorder worldwide. It occurs when iron levels in the body are low and there is not enough iron to produce normal red blood cells. Symptoms can include pallor, fatigue, and irritability. Diagnosis involves blood tests showing low iron levels, smaller and fewer red blood cells. Treatment is oral iron supplementation which leads to improved hemoglobin levels within weeks. Prevention focuses on breastfeeding, iron-fortified formula for infants, and limiting milk intake after age 1.
Bone marrow failure, or aplastic anemia, is a condition where the bone marrow does not produce sufficient new blood cells. It can affect red blood cells, white blood cells, and platelets separately or together. The most common type is acquired aplastic anemia, which is often caused by viral infections or medications. A patient presents with pallor, fever, bruising, and bleeding. Investigations show pancytopenia and a hypocellular bone marrow. Treatment involves blood transfusions, immunosuppressive drugs, or bone marrow transplant. The prognosis depends on the severity and treatment received, with transplant offering the best chance of cure.
Newborn screening is a public health program that screens infants shortly after birth for treatable genetic or metabolic conditions. The goal is early detection so medical treatment can be promptly initiated to prevent irreversible damage. Conditions commonly screened for include phenylketonuria, congenital hypothyroidism, galactosemia, and maple syrup urine disease. Screening methods have advanced from bacterial assays of individual conditions to tandem mass spectrometry, which can screen for over 50 conditions in a single test.
This document discusses newborn screening in India. It notes that while over 140 million children are born each year globally, newborn screening programs are not universally implemented in India. The document outlines the types and components of newborn screening, including education, specimen collection, laboratory testing, follow-up, and evaluation. It recommends conditions that should be included in basic and expanded newborn screening programs in India, such as congenital hypothyroidism, congenital adrenal hyperplasia, and G6PD deficiency. The goal of newborn screening is early detection to prevent morbidity, mortality, and disability.
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
This document discusses sickle cell anemia. It begins by explaining that sickle cell anemia causes red blood cells to become stiff, sticky and sickle-shaped which can block blood flow. It then describes the characteristics of normal red blood cells compared to sickled cells. The document outlines the pathological defect involving mutations in hemoglobin genes. It details the four main types of sickle cell disease and their symptoms. Diagnostic tests and medical management are discussed along with potential complications from sickle cell anemia. Nursing care focuses on monitoring for impaired skin integrity, risk of injury from joint swelling, and altered renal function.
Inborn errors of metabolism are genetic diseases caused by defects in single enzymes involved in metabolic pathways. This leads to toxic accumulation of substrates or deficiencies in essential compounds. Garrod hypothesized these disorders were due to errors in intermediate metabolism. Examples include disorders of carbohydrate, amino acid, fatty acid, and mitochondrial metabolism. Symptoms depend on the specific pathway affected and can include hypoglycemia, lactic acidosis, and developmental delays. Treatment focuses on preventing toxic accumulations and supplementing deficient compounds.
This document discusses inborn errors of metabolism, which are inherited disorders caused by defects in metabolic enzyme pathways. It provides details on the presentation, evaluation, differential diagnosis, emergency treatment and management of several specific metabolic conditions. Key points include: inborn errors can present from infancy to adulthood; evaluation involves medical history, physical exam and laboratory tests; treatment focuses on stabilizing the patient, identifying and eliminating toxic metabolites, and providing supportive care and diet management. Congenital adrenal hyperplasia is discussed as an example of an inborn error presenting as an adrenal crisis in infants.
THIS PPT INCLUDES THE GENETIC DISORDERS SUCH AS, DOWNS SYNDROME, KLINFELTER SYNDROME, TURNERS SYNDROME, ETC. I TRIED TO PUT ALL INFORMATION IN THIS SLIDES. IF ANY SUGGESTION TO IMPROVE THIS PLESE SUGGEST ME IN SUGGESTION BOX. GIVE YOUR LIKES AND COMMENT.
Weitzman Institute Webinar Series: Pediatric Genetics and GenomicsCHC Connecticut
1. The document discusses the role of the primary care physician (PCP) in caring for patients with metabolic diseases, including newborn screening follow-up.
2. It describes a case example of a newborn with elevated levels on newborn screening suggestive of a urea cycle defect who was urgently referred and treated, with the ammonia levels normalizing quickly with treatment.
3. Resources for PCPs on newborn screening conditions and referral guidelines are provided.
1. Newborn screening involves testing infants shortly after birth for treatable conditions that are not clinically apparent. This allows for early intervention to prevent irreversible damage.
2. Conditions screened for include metabolic disorders, endocrinopathies, hemoglobinopathies, cystic fibrosis, and others. Screening methods include blood tests, hearing tests, and pulse oximetry.
3. Positive results are reported immediately to doctors so treatment can begin, preventing disability or death from conditions like PKU, congenital hypothyroidism, and sickle cell disease.
This document discusses inborn errors of metabolism. It begins by defining metabolism as the breakdown and building up of molecules through catabolic and anabolic pathways, facilitated by enzymes. Inborn errors of metabolism are disorders caused by mutations that block normal metabolic pathways, resulting in toxic metabolites. The document then classifies different types of inborn errors affecting amino acid, carbohydrate, lipid, protein, and pigment metabolism. It outlines patterns of clinical presentation including encephalopathy, liver disease, dysmorphic features, and neurological symptoms. The document stresses the importance of early metabolic investigations for treating inborn errors.
This document discusses various inborn errors of metabolism including phenylketonuria, alkaptonuria, homocystinuria, galactosemia, glycogen storage diseases, mucopolysaccharidoses, Gaucher disease, Niemann-Pick disease, cystic fibrosis, and Wilson's disease. It describes the genetic defects, clinical features, diagnostic tests, and morphological findings for each condition. These hereditary biochemical disorders result from mutations that compromise the function of enzymes or other proteins involved in metabolic pathways.
The document discusses growth hormone (GH) deficiency. It notes that GH is produced by the pituitary and regulates growth. GH secretion peaks during puberty then declines with age. Causes of GH deficiency include genetic factors, tumors, injuries and infections. Clinical features include short stature, delayed development, and body proportions differences. Evaluation involves assessing growth rates and examinations. Treatment is usually GH injections, aimed at restoring normal growth rates. Response is monitored through height velocity measurements.
baby born before 37 weeks of gestation calculating from the first day of last menstural period is defined as preterm baby/ premature baby.
These babies are known as preemies
Defines Exchange Transfusion, the Aims, and indications of Exchange Transfusion. Articles required, choice of donor, the procedure of exchange transfusion. Post transfusion care and the complications that can occur due to exchange transfusion. The Ppt also describes the special considerations during the procedure.
Thalassemia is a blood disorder caused by a genetic defect that results in inadequate hemoglobin production. It is most common in populations from the Mediterranean, Middle East, Africa, and Asia. There are two main types - alpha and beta thalassemia. Management involves regular blood transfusions to correct anemia, along with iron chelation therapy to prevent iron overload. Nursing care focuses on monitoring for complications, providing transfusions and chelation therapy, and educating patients and their families.
This document discusses iron deficiency anemia (IDA) in children. It begins by defining anemia and listing the WHO thresholds used to define anemia in different age groups. It then covers the etiological, morphological and pathophysiological classifications of anemia. Under the etiological classification, it describes anemias caused by blood loss, impaired red blood cell formation, and excessive red blood cell destruction. It also discusses the clinical features, laboratory diagnosis, treatment, complications and prevention of IDA in children.
Iron-deficiency anemia is the most common nutritional disorder worldwide. It occurs when iron levels in the body are low and there is not enough iron to produce normal red blood cells. Symptoms can include pallor, fatigue, and irritability. Diagnosis involves blood tests showing low iron levels, smaller and fewer red blood cells. Treatment is oral iron supplementation which leads to improved hemoglobin levels within weeks. Prevention focuses on breastfeeding, iron-fortified formula for infants, and limiting milk intake after age 1.
Bone marrow failure, or aplastic anemia, is a condition where the bone marrow does not produce sufficient new blood cells. It can affect red blood cells, white blood cells, and platelets separately or together. The most common type is acquired aplastic anemia, which is often caused by viral infections or medications. A patient presents with pallor, fever, bruising, and bleeding. Investigations show pancytopenia and a hypocellular bone marrow. Treatment involves blood transfusions, immunosuppressive drugs, or bone marrow transplant. The prognosis depends on the severity and treatment received, with transplant offering the best chance of cure.
Newborn screening is a public health program that screens infants shortly after birth for treatable genetic or metabolic conditions. The goal is early detection so medical treatment can be promptly initiated to prevent irreversible damage. Conditions commonly screened for include phenylketonuria, congenital hypothyroidism, galactosemia, and maple syrup urine disease. Screening methods have advanced from bacterial assays of individual conditions to tandem mass spectrometry, which can screen for over 50 conditions in a single test.
This document discusses newborn screening in India. It notes that while over 140 million children are born each year globally, newborn screening programs are not universally implemented in India. The document outlines the types and components of newborn screening, including education, specimen collection, laboratory testing, follow-up, and evaluation. It recommends conditions that should be included in basic and expanded newborn screening programs in India, such as congenital hypothyroidism, congenital adrenal hyperplasia, and G6PD deficiency. The goal of newborn screening is early detection to prevent morbidity, mortality, and disability.
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
This document discusses sickle cell anemia. It begins by explaining that sickle cell anemia causes red blood cells to become stiff, sticky and sickle-shaped which can block blood flow. It then describes the characteristics of normal red blood cells compared to sickled cells. The document outlines the pathological defect involving mutations in hemoglobin genes. It details the four main types of sickle cell disease and their symptoms. Diagnostic tests and medical management are discussed along with potential complications from sickle cell anemia. Nursing care focuses on monitoring for impaired skin integrity, risk of injury from joint swelling, and altered renal function.
Inborn errors of metabolism are genetic diseases caused by defects in single enzymes involved in metabolic pathways. This leads to toxic accumulation of substrates or deficiencies in essential compounds. Garrod hypothesized these disorders were due to errors in intermediate metabolism. Examples include disorders of carbohydrate, amino acid, fatty acid, and mitochondrial metabolism. Symptoms depend on the specific pathway affected and can include hypoglycemia, lactic acidosis, and developmental delays. Treatment focuses on preventing toxic accumulations and supplementing deficient compounds.
This document discusses inborn errors of metabolism, which are inherited disorders caused by defects in metabolic enzyme pathways. It provides details on the presentation, evaluation, differential diagnosis, emergency treatment and management of several specific metabolic conditions. Key points include: inborn errors can present from infancy to adulthood; evaluation involves medical history, physical exam and laboratory tests; treatment focuses on stabilizing the patient, identifying and eliminating toxic metabolites, and providing supportive care and diet management. Congenital adrenal hyperplasia is discussed as an example of an inborn error presenting as an adrenal crisis in infants.
THIS PPT INCLUDES THE GENETIC DISORDERS SUCH AS, DOWNS SYNDROME, KLINFELTER SYNDROME, TURNERS SYNDROME, ETC. I TRIED TO PUT ALL INFORMATION IN THIS SLIDES. IF ANY SUGGESTION TO IMPROVE THIS PLESE SUGGEST ME IN SUGGESTION BOX. GIVE YOUR LIKES AND COMMENT.
Weitzman Institute Webinar Series: Pediatric Genetics and GenomicsCHC Connecticut
1. The document discusses the role of the primary care physician (PCP) in caring for patients with metabolic diseases, including newborn screening follow-up.
2. It describes a case example of a newborn with elevated levels on newborn screening suggestive of a urea cycle defect who was urgently referred and treated, with the ammonia levels normalizing quickly with treatment.
3. Resources for PCPs on newborn screening conditions and referral guidelines are provided.
1. Newborn screening involves testing infants shortly after birth for treatable conditions that are not clinically apparent. This allows for early intervention to prevent irreversible damage.
2. Conditions screened for include metabolic disorders, endocrinopathies, hemoglobinopathies, cystic fibrosis, and others. Screening methods include blood tests, hearing tests, and pulse oximetry.
3. Positive results are reported immediately to doctors so treatment can begin, preventing disability or death from conditions like PKU, congenital hypothyroidism, and sickle cell disease.
Kuwait has expanded its newborn screening program to screen for 22 primary disorders including 18 inborn errors of metabolism, 2 endocrine disorders, and 2 other metabolic disorders. The expanded screening provides benefits like early identification and intervention to reduce morbidity and mortality. Screening is done through heel prick samples that are tested at the Newborn Screening laboratory. Positive results require confirmatory testing while negative results are sent to hospitals. The expanded screening aims to improve outcomes for treatable genetic disorders.
Screening for any disorder in individuals is a strategy used for identifying a disease before the onset of signs or symptoms, thus enabling earlier detection and management with the aim to reduce morbidity and mortality.
Using Genomic Sequencing & HPC to Help Save the Lives of Critically Ill Childreninside-BigData.com
The Center for Pediatric Genomic Medicine at Children's Mercy Hospital was established in 2011 to provide genomic sequencing and analysis for children to diagnose rare genetic diseases. It has diagnosed over 15 conditions in 25 families using exome sequencing, often changing medical management. For some cases, it has identified new treatment options like stem cell transplantation that have cured patients. The center aims to provide a genomic diagnosis within a day for babies in the NICU and within a month for all children to guide care and reduce unnecessary testing.
FDA 2013 Clinical Investigator Training Course: Clinical Discussion of Specia...MedicReS
FDA 2013 Clinical Investigator Training Course: Clinical Discussion of Special Populations
Ryan P. Owen, Ph.D.. Office of Clinical Pharmacology, Office of Translational Sciences,CDER
Inborn error of metabolism ( Prenatal & Newborn Screening )Dr.Debkumar Ray
This document discusses inborn errors of metabolism (IEM), including definitions, classifications, symptoms, pathophysiology, treatment approaches, and the importance of prenatal and newborn screening. Some key points include:
- IEM are rare genetic disorders caused by defects in metabolic pathways. They are classified into amino acid, carbohydrate, lipid, protein, and pigment metabolism disorders.
- Early detection of IEM is important to prevent permanent mental retardation and other serious consequences through timely intervention. Newborn screening aims to recognize disorders in the first week of life.
- Tandem mass spectrometry allows screening for a wide range of disorders from a single blood sample. Prenatal screening uses maternal serum markers and
In collaboration with the New England Regional Genetics Network, the Weitzman Institute aims to improve access to genetics services for underserved populations by offering primary care provider educational support through a free five-part webinar series that aims to enhance provider knowledge, practice, and attitudes regarding genetic services.
Diagnosis of PCOS MCMCTACONSESSION4.pptxDrRokeyaBegum
This document provides guidance on diagnosing and managing polycystic ovarian syndrome (PCOS) in adolescents. Key points include:
- Adult PCOS diagnostic criteria are not applicable to adolescents due to normal irregular periods and cystic ovaries during puberty.
- Recommended diagnostic approach involves assessing for unexplained hyperandrogenism and ovarian dysfunction after ruling out other conditions.
- Management involves lifestyle changes like weight loss, exercise and diet, as well as symptom-focused treatments like birth control pills, anti-androgens and insulin-sensitizing agents.
- The goals are to alleviate current symptoms, decrease future health risks of PCOS like infertility, metabolic syndrome and diabetes. Care must be taken to
This document outlines the protocol for antenatal clinic visits. It recommends that pregnant women have at least 4 checkups - in the first, second, and third trimesters and between 36 weeks and term. The first visit includes registration, history taking, examinations, and basic investigations. Subsequent visits monitor weight, blood pressure, fetal growth and position. Investigations are repeated as needed. The protocol advises on nutrition, rest, medication, symptoms to report, and maternal risk factors identified during antenatal care.
The document discusses newborn screening for metabolic disorders. It describes Tyler Wayne's story who died from undiagnosed galactosemia. Metabolic disorders can cause damage if not detected early through newborn screening. The document outlines the benefits of newborn screening such as early detection and treatment before symptoms appear. It describes how tandem mass spectrometry can screen for over 50 treatable disorders simultaneously and efficiently.
The document discusses newborn screening for metabolic disorders using tandem mass spectrometry (MS/MS). It begins with the story of Tyler Wayne who died from undiagnosed galactosemia. It then explains that MS/MS allows for early detection of treatable metabolic disorders before symptoms appear, preventing complications. The document outlines the process and benefits of newborn screening as well as the status of screening programs in various countries including the UAE.
The document discusses newborn screening for metabolic disorders. It describes Tyler Wayne's story who died from undiagnosed galactosemia. Metabolic disorders can cause damage if not detected early through newborn screening. The document outlines the benefits of newborn screening such as early detection and treatment before symptoms appear. It describes how tandem mass spectrometry can screen for over 50 treatable disorders simultaneously.
Newborn screening involves testing newborns for treatable genetic and metabolic disorders through methods like dried bloodspot testing, hearing screening, and pulse oximetry. The goals are to identify at-risk newborns early before symptoms present, when treatment is most effective. Abnormal screening results require follow up diagnostic testing, education of families, and treatment if a condition is confirmed. Future directions may include expanded screening panels and genomic newborn screening, though these raise additional complex issues to consider.
Causality Assessment of Adverse Drug Reactions: An overviewDrSahilKumar
Causality assessment is important for determining if an adverse drug reaction is caused by a medication. Several scales exist to assess causality, including the WHO-UMC scale and Naranjo scale. The WHO-UMC scale categorizes causality as certain, probable, possible, unlikely, unclassified or unassessable based on factors like dechallenge/rechallenge outcomes, alternative causes, and temporal relationship. Accurately assessing causality prevents unnecessary drug withdrawals but also identifies true safety issues. Exercises are provided to help learn causality assessment.
Newborn screening involves testing infants shortly after birth for treatable conditions that are not evident at birth. The screening tests detect over a dozen conditions, including phenylketonuria, congenital hypothyroidism, galactosemia, sickle cell disease, and cystic fibrosis. If detected early, many of these conditions can be managed through dietary changes or other treatments to prevent intellectual disabilities or other serious health issues. Screening methods vary by state but often involve testing a sample of blood, usually obtained via heel prick, for markers of these conditions.
Laboratory tests play an important role in psychiatry by helping with diagnosis, monitoring treatment, and detecting potential side effects or medical comorbidities. Key tests include blood tests to evaluate thyroid, liver, kidney, and metabolic function, as well as tests for infections. Monitoring tests are important when prescribing medications like antipsychotics that can affect metabolic parameters and increase risk of conditions like diabetes. Laboratory evaluations can help optimize treatment safety and effectiveness in psychiatry.
Pediatric Genetics: What the Primary Provider Needs to KnowCHC Connecticut
This document provides information from a presentation on pediatric genetics for primary care providers. It discusses when genetic or metabolic diseases should be considered, such as in cases with multi-system involvement, seemingly unconnected symptoms, or progressive disease courses. It emphasizes that descriptive or idiopathic diagnoses can miss underlying causes and outlines examples of conditions that present with episodic clinical or biochemical decompensation. The document also notes challenges in making a diagnosis and potential issues with clinical diagnoses, and discusses considerations around patients obtaining genetic testing directly from commercial companies.
Similar to Pediatric Genetics - Newborn Screening Part 1 (20)
The COVID-19 pandemic has created several challenges for our country’s health care infrastructure, and the community health center workforce is no exception. Join us as we describe strategies to get patients back into dental care. Along with these strategies, participants will learn how to recognize challenges in dental practices, as well as how to engage the interdisciplinary care team through role redesign and integration to increase access to comprehensive care.
NTTAP Webinar Series - June 7, 2023: Integrating HIV Care into Training and E...CHC Connecticut
In order for health centers to provide compassionate and respectful HIV prevention, care, and treatment in comprehensive primary care settings, the clinical workforce must be knowledgeable, confident, and competent in their ability to do so.
We’ll explore the need to integrate HIV care into training and education for the clinical care team, as well as educational models to train the next generation. Using Community Health Center Inc.’s Center for Key Populations Fellowship for Nurse Practitioners (NPs) as a framework for best practices, experts will discuss how to implement specialty care for key populations in your training programs. Additionally, participants will gain awareness of the importance of training the clinical workforce on key population competencies in HIV programs (e.g. HCV, MOUD, LGBTQI+ health, homelessness, and harm reduction).
Utilizing the Readiness to Train Assessment Tool (RTAT™) To Assess Your Capac...CHC Connecticut
Improve educational training experiences at your health center by assessing your capacity and infrastructure to host health professions students.
Join the upcoming hands-on interactive activity session to learn how to utilize the Readiness to Train Assessment Tool (RTAT™). This tool was developed by HRSA-funded National Training and Technical Assistance Partners (NTTAP) at Community Health Center, Inc. (CHC) to understand organizational readiness to host health professions student training programs.
NTTAP Webinar Series - May 18, 2023: The Changing Landscape of Behavioral Hea...CHC Connecticut
The COVID-19 pandemic has resulted in significant shifts in the mode of care from face-to-face to virtual interactions. Join us as we discuss the challenges currently facing behavioral health care and at least one strategy for each. Along with these strategies, panelists will go over what integrated behavioral health care was and is before and following COVID-19, as well as what actions should be taken going forward to increase access to comprehensive care.
Panelists:
• Dr. Tim Kearney, PhD, Chief Behavioral Health Officer, Community Health Center, Inc.
• Melinda Gladden, LCSW, PMHC, Behavioral Health Clinician, Community Health Center, Inc.
• Jodi Anderson, LMFT, Virtual Telehealth Group Coordinator, Community Health Center, Inc.
Health Professions Student Training Webinar: Assessing Organizational CapacityCHC Connecticut
This document provides information about a webinar on assessing organizational capacity for health professions student training. It includes details about continuing education credits, speakers, objectives, and an overview of key aspects of assessing capacity. These include identifying willing and available faculty members, maintaining a spreadsheet of available preceptors, conducting a secondary review of space, training, and onboarding needs, and negotiating placements with academic affiliations. It also discusses best practices for clinical observation and feedback forms, and introduces some preceptor panelists. Finally, it provides an overview of the Readiness to Train Assessment Tool (RTAT) and how it can be used to understand an organization's capacity based on survey results.
Training the Next Generation: Investing in Workforce TrainingCHC Connecticut
This document provides information about an upcoming webinar on workforce training. The webinar will discuss why health centers should invest in health professions education and training programs, how to assess organizational readiness to implement such programs, and best practices for developing replicable training models. Attendees will learn how workforce development planning makes business sense by reducing costs from employee turnover and increasing access to care. A tool called the Readiness to Train Assessment can help organizations evaluate their capacity and motivation to engage in training programs. Successful training requires identifying qualified preceptors and building a culture of learning in the organization.
NTTAP Webinar Series - April 13, 2023: Quality Improvement Strategies in a Te...CHC Connecticut
Join us for a webinar on quality improvement in team-based care!
Building a quality improvement (QI) infrastructure within team-based care is an organizational strategy that will establish a culture of continuous improvement across departments and improve quality in all domains of performance.
Participants will learn about:
• QI infrastructure
• Facilitating QI committees
• Coach training within health centers
Faculty will also provide an example of how trained coaches use QI tools to test and implement changes within an organization.
Addressing Genetics Workforce Shortage - April 11, 2023CHC Connecticut
The document discusses the shortage of geneticists and genetic counselors in the United States. It notes that there are currently only around 1,240 medical geneticists and 4,700 genetic counselors serving the population, below the recommended levels. Many states have fewer than the recommended number of geneticists per population. The document explores ways primary care physicians can help address gaps, such as playing a more active role in selected genetic situations like cancer risk assessment. It also identifies growing the educational opportunities in genetics as important for increasing the workforce.
Implementation of Timely and Effective Transitional Care Management ProcessesCHC Connecticut
Join us to discuss best practices for integrating daily follow-ups for patients recently hospitalized for health emergencies. Effectively following up with patients is a critical responsibility for integrated care teams.
Experts will share how their teams respond to patients to identify care gaps and support the transition of care. Workflow descriptions will provide participants with the tools to support their work to adapt specific steps into their model of team-based care.
Panelists:
• Mary Blankson, DNP, APRN, FNP-C, FAAN, Chief Nursing Officer, Community Health Center, Inc.
• Veena Channamsetty, MD, FAAFP, Chief Medical Officer, Community Health Center, Inc.
• Bibian Ladino-Davis, Behavioral Health Coordinator, Weitzman Institute
Direct to Consumer Test and Ancestry Testing - March 14, 2023CHC Connecticut
Direct to Consumer Genetic and Ancestry Testing
This document discusses direct-to-consumer (DTC) genetic and ancestry testing. It defines DTC testing as testing that can be ordered by consumers without a health care provider. The document outlines the types of information provided by DTC tests, including ancestry, traits, disease risks, and results for some Mendelian conditions. However, it notes limitations like low predictive value without family history and risks of false positives. It provides examples of patients impacted by DTC testing results and emphasizes the need for confirmation of pathogenic variants by clinical genetics. The document also discusses privacy and legal issues related to DTC testing.
Implement Behavioral Health Training Programs to Address a Crucial National S...CHC Connecticut
Health centers are uniquely positioned to address the unprecedented need for behavioral health services but are challenged by the workforce shortage. Participants will gain the knowledge needed to begin conceptualization of a training pathway.
Join us to discuss the considerations of sponsoring an in-house training program across all educational levels, including the benefits, program structure, design, curriculum, supervisors' role, and required resources.
Experts will provide participants with examples from practicum and postdoctoral level training programs to help them gain confidence in developing a behavioral health training pathway.
Genetic Connections to Breast Cancer - February 14, 2023CHC Connecticut
This document discusses genetic connections to breast cancer. It begins by outlining the learning objectives, which are to understand the importance of collaboration between genetics and non-genetics experts for hereditary breast cancer patients, emphasize obtaining accurate family histories, and discuss benefits and limitations of next generation sequencing panel tests. It then discusses genetic counselors' role in oncology, hereditary cancer risks and patterns, BRCA genes, obtaining family histories, genetic testing options like multi-gene panels, interpreting results, cancer screening recommendations, and prophylactic surgery options. Resources and established risk models are also referenced.
Connective Tissue Disorders Slides - January 17, 2023CHC Connecticut
This document discusses several genetic connective tissue disorders including Ehlers Danlos syndromes, Marfan syndrome, Loeys-Dietz syndrome, Stickler syndrome, Shprintzen Goldberg syndrome, Cutis Laxa, and Osteogenesis Imperfecta. It highlights the importance of identifying these disorders to allow for timely detection of serious complications and management by multiple medical specialists. Connective tissues are the most abundant tissues in the body and connect, support, bind or separate other tissues. Identification of a connective tissue disorder through genetic diagnosis guides appropriate care.
Implementation of Facial Recognition Software for Clinical Genetics Practice...CHC Connecticut
This document discusses the potential uses of facial recognition software in clinical genetics practice and education. It provides 3 examples of how facial recognition software could help in rare disease identification and interpreting genetic testing results. The document also outlines learning objectives about identifying medical uses of facial recognition, using facial grids to match patterns to syndromes, and the importance of diverse training data.
HIV Prevention: Combating PrEP Implementation ChallengesCHC Connecticut
Expert faculty present case-based scenarios illustrating common challenges to integrating HIV PrEP in primary care. As part of improving clinical workforce development, this session will delve into a variety of specific PrEP implementation challenges. Participants will leave with strategies to overcome these obstacles to establish or strengthen their PrEP program.
Panelists:
• Marwan Haddad, MD, MPH, AAHIVS, Medical Director, Center for Key Populations, Community Health Center, Inc.,
• Jeannie McIntosh, APRN, FNP-C, AAHIVS, Family Nurse Practitioner, Center for Key Populations, Community Health Center, Inc.
NTTAP Webinar Series - December 7, 2022: Advancing Team-Based Care: Enhancing...CHC Connecticut
Join us as expert faculty outline the differences between case management, care coordination and complex care management to frame up a discussion on strategies to leverage effective models for both in-person and remote services.
Expert faculty will discuss the role of the medical assistant and the nurse in care management, as well as how standing orders and delegated orders support this work. This session will discuss how telehealth and remote patient monitoring enhancements can support complex care management for patients with chronic conditions.
Participants will leave this session with the knowledge and tools to begin or enhance implementation of chronic care management by enhancing the role of the medical assistant, nurse and the technology that supports the clinical care.
Panelists:
• Mary Blankson, DNP, APRN, FNP-C, Chief Nursing Officer, Community Health Center, Inc.
• Tierney Giannotti, MPA, Senior Program Manager, Population Health, Community Health Center Inc.
Genetics Cases and Resources Webinar Slides - November 8, 2022CHC Connecticut
The document discusses various metabolic diseases, including those that cause muscle symptoms like long chain hydroxyacyl CoA dehydrogenase (LCHAD) deficiency and Pompe disease. It provides information on fatty acid oxidation defects, describing how the body metabolizes fatty acids and the consequences of defects in breaking down different chain length fatty acids. Symptoms of long chain fatty acid oxidation defects are discussed, including fasting intolerance, encephalopathy, liver dysfunction, and muscle involvement. The diagnosis and treatment of these conditions is also summarized.
NTTAP Webinar: Postgraduate NP/PA Residency: Discussing your Key Program Staf...CHC Connecticut
This document discusses a webinar presented by Community Health Center, Inc. on their postgraduate nurse practitioner and physician assistant residency and fellowship programs. It provides an agenda for the webinar which will discuss the key program staff and their responsibilities, including the program director, clinical director, preceptors, mentors and other faculty. The webinar objectives are to identify drivers for implementing such programs, describe the implementation process, discuss program structure and highlight the roles of program staff.
Training the Next Generation within Primary CareCHC Connecticut
This document summarizes a presentation about training the next generation within primary care. It discusses Community Health Center Inc.'s various workforce development programs, including clinical and non-clinical fellowships and student programs. Specifically, it focuses on administrative fellowships, outlining their purpose and key factors to consider when establishing one, such as the fellow's access and experiences. It also describes other opportunities at the Weitzman Institute for training students, such as research programs with Wesleyan University and health policy fellowships. The presentation emphasizes that community health centers are important training grounds and considers how to structure diverse programs to support succession planning.
This webinar discussed the value of chiropractic treatment as a primary care intervention. Our panelists discussed the role of chiropractic specialists in the primary care team and reviewed the integration of chiropractic services.
Panelists:
• Margaret Flinter, PhD, APRN, FAAN, Senior Vice President and Clinical Director, Community Health Center, Inc.
• Veena Channamsetty, MD, FAAFP, Chief Medical Officer, Community Health Center, Inc.
• James J. Lehman, DC, MBA, DIANM, Director of Health Sciences Postgraduate Education, University of Bridgeport, Chiropractic Orthopedist, Community Health Center, Inc.
• Lesly Valbrun, DC, MPH, MBA(c), Chiropractic Resident, University of Bridgeport, Community Health Center, Inc.
Adhd Medication Shortage Uk - trinexpharmacy.comreignlana06
The UK is currently facing a Adhd Medication Shortage Uk, which has left many patients and their families grappling with uncertainty and frustration. ADHD, or Attention Deficit Hyperactivity Disorder, is a chronic condition that requires consistent medication to manage effectively. This shortage has highlighted the critical role these medications play in the daily lives of those affected by ADHD. Contact : +1 (747) 209 – 3649 E-mail : sales@trinexpharmacy.com
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Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
Integrating Ayurveda into Parkinson’s Management: A Holistic ApproachAyurveda ForAll
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
3. Weitzman Institute Learning Academy Pediatric Genetics
The NERGN project is supported by the Health
Resources and Services Administration (HRSA) of the
U.S. Department of Health and Human Services
(HHS) under grant number UH7MC30778; New
England Regional Genetics Network; total award
amount: 1.5 million; 100% from governmental
sources. This information or content and
conclusions are those of the author and should not
be construed as the official position or policy of, nor
should any endorsements be inferred by HRSA, HHS
or the U.S. Government.
6. 6
Asbjørn Følling Asked by mother of two children
with ID to find the reason for their
unusual odor
Discovered phenylketones in their
urine
Disorder named Følling’s disease,
or phenylketonuria (PKU)
A BRIEF HISTORY OF NEWBORN SCREENING
10. THE FIRST SCREENING TEST FOR PKU
Courtesy of Stephen Cederbaum, MD
The ferric
chloride test
11. Blood filter paper
Bacterial inhibition
assay (Guthrie test)
Universal screening
Advocacy for newborn
screening
Courtesy of Harvey L. Levy, MD
ROBERT GUTHRIE, MD, PhD
12. THE “PKU TEST”
• JFK launches a 20-state trial of the “Guthrie test”
• Massachusetts launches screening for PKU in 1962
• 7 patients are identified in the first six months
13. TIMELINE OF NEWBORN SCREENING
1934 - Folling identifies PKU
1954 – Bickel publishes PKU dietary therapy
1961 – Guthrie
test
1985 – NB screening
begins in Mississippi
1962 – Massachusetts
launches screening for PKU
1990 – States screen for 5-7 disorders
14. NEWBORN SCREENING OVERSIGHT
• Mandated and regulated at the State level
• The Clinical and Laboratory Standards Institute
(CLSI) has proposed voluntary consensus guidelines
• The Centers for Disease Control (CDC) coordinates
and oversees quality assurance for newborn
screening across the country
16. OBTAINING THE SCREEN
• For well infants – screening after 24 hours
• Some states have more than one screen
17. SCREENING COMPLICATED NEWBORNS
• Proposed consensus guidelines by CLSI
• Testing recommended at admission
• If 1st screen < 24 hours – repeat at 48-72 hours
• If < 34 wk, or <2000 gm - repeat at 28 days or at
discharge
• Hemoglobinopathies, galactosemia, biotinidase pre-
transfusion
• If transferred – sending + receiving nurseries send
specimens
18. REPORTING RESULTS
• Most states use two-tier reporting
• Mild abnormality request a 2nd screen
• Significant abnormality call the screening MD,
the PCP, and/or the specialty MD
• States report a Primary Marker and
most states a Secondary Marker as well
• For PKU:
• PHE is the primary marker
• PHE/TYR is the secondary marker
22. NEWEST METHODOLOGY
• Roe and Millington
apply MS/MS to
metabolic disease
• Naylor applies MS/MS
to newborn screening
• ”Expanded NBS”
permits screening for
>50 diseases from a
single specimen
TANDEM MASS
SPECTROMETRY
Many Diseases
34. THE RUSP AND THE STATES
• The RUSP is not followed in some States
• Remember that each State has the authority to
determine the panel of diseases screened within its
jurisdiction
35. 1934 - Folling identifies PKU
1954 – Bickel publishes PKU dietary therapy
1961 – Guthrie
test
1985 – NB screening
begins in Mississippi
1962 – Massachusetts
launches screening for PKU
1990 – States screen for 5-7 disorders
1990s – MS/MS NBS EXPANSION 2006 -
SACHDNC
RUSP
2018 – 35 Primary, 27 Secondary disorders on the RUSP
36. MOST COMMON OF THE SCREENED CONDITIONS
Disorder Annual # US Cases
(estimate)
Hearing loss 5,073
Primary congenital hypothyroidism 2,156
Sickle cell disease (includes sickle cell anemia, sickle
C disease and hemoglobin S/Beta thalassemia)
1,775
Cystic fibrosis (includes non-classical) 1,248
Medium-chain acyl-CoA dehydrogenase deficiency 239
Classical galactosemia (includes variant) 224
Phenylketonuria (PKU) 215
Congenital adrenal hyperplasia (CAH) 202
40. ACUTE NEONATAL PRESENTATIONS
Propionic acidemia
Methylmalonic acidemia
(MMA, mutase)
MMA (cobalamin A+B)
Isovaleric acidemia
Beta-ketothiolase deficiency
Holocarboxylase synthetase def’y
Glutaric acidemia type I
3-MC carboxylase deficiency
Biotinidase deficiency
HMG CoA lyase deficiency
Amino acid disorders Organic acid disorders
PKU
Homocystinuria
Maple syrup urine disease
Tyrosinemia type I
Citrullinemia type I
Argininosuccinic aciduria
MCAD deficiency
VLCAD deficiency
LCHAD deficiency
Trifunctional protein deficiency
Carnitine uptake defect
Congenital hypothyroidism
Congenital adrenal hyperplasia
Hemoglobinopathies (3)
Cystic fibrosis
Severe combined immunodeficiencies
Spinal muscular atrophy
Critical congenital heart disease
Hearing loss
Other disorders
Fatty acid oxidation
defects
Galactosemia
Pompe disease
Hurler disease (MPS I)
X-linked adrenoleukodystrophy
Other Metabolic disorders
41. • “Is the abnormal test really
PKU or something else?”
• “Is the call for a repeat
specimen or an emergency referral?”
• PPV for a repeat specimen is lower than for
an emergency referral
• “Is this a medical emergency?”
• This was a concern when the specimen
now it’s 2-4 days later!
GETTING A CALL
FROM THE NBS
LABORATORY
42. Remember!
• This is a call about a screen, not
a diagnosis
• The call could concern:
• A metabolic emergency
• A false positive
• An effect from TPN or diet
• Carrier status
GETTING A
METABOLIC CALL
FROM THE NBS LAB
43. NEONATAL CONDITIONS CAN IMPACT THE SCREEN
• TPN can raise the levels of certain amino
acids
• MCT oil/supplementation can show up in the
levels of certain fatty acid acylcarnitines, not
unexpectedly
• Liver disease/dysfunction and other disorders
can impact NBS results too
44. ACTING ON THE CALL
• The American College of Medical
Genetics/Genomics (ACMG) website
• A resource for information about genetic
diseases, genetic testing including NBS
• ACT sheets – information about the disease
• Algorithms for diagnostic evaluation
• www.acmg.net
45.
46.
47.
48.
49.
50.
51.
52.
53.
54.
55. • Discuss the screening results and potential
clinical implications
• Assess the need for a repeat specimen
• Discern disease from diet impact from artifact
• Figure out if and how management should
change
HOW A GENETICIST CAN HELP YOU…
57. • We will review several problematic NBS cases
together
• Cases are adapted from real situations, and
intended to be practical and relevant to
primary practice
• The session will be an interactive one
NEXT TIME – NEWBORN SCREENING, PART II
58. 58
Get the Most Out of Your Experience
Use the Q&A Button to submit questions
during today’s session
Recording and slides will be sent by email
For further information, contact WILA@chc1.com