What is Newborn (Blood Spot) Screening? Newborn Bloodspot - PDF document

10/23/2019 What is Newborn (Blood ‐ Spot) Screening? Newborn Bloodspot Screening, • EVERY baby born in Nebraska gets the screen. What Home Visitors • Collected at hospital after 24 hours but before 48 Need to Know…(and then some) hours after birth. Recharge for Resilience Conference • Five drops of blood from a heel ‐ stick. Kearney, Nebraska • Shipped to lab in Pennsylvania. October 30, 2019 • Tested for 32 rare diseases. • (will share the list in a bit) H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 1 2 Why is it done? Is it accurate? • You can’t tell by how the baby looks or acts that they have • The tests are highly sensitive and specific. However, they are a “screen” so: these diseases. • Some will be False Positives • False Negatives are possible (extremely infrequent) • The diseases can cause severe damage to the brain, deafness, blindness, organ damage, nerve and muscle • The screening tests are NOT diagnostic. A positive screen means that baby is at damage, chronic illness and some even result in seizures, strokes or infant death. higher risk of having the disease, and must have further testing. • Sometimes specimens are not acceptable for testing (e.g. not enough blood on • The test is the best way to detect these diseases before the filter paper cards) so repeat screens are needed. damage has occurred and symptoms begin. • Sometimes specimens are collected too early, or too close to a • For each of these rare diseases, there is an transfusion, so they can’t be tested for some of the diseases. effective treatment to prevent these problems! H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 3 4 What’s the hurry? Just how rare are these diseases? • Some are found in only 1:100,000 babies, others as are as • For some of the diseases the damage to the brain or other organs common as 1:6,000. begins in the first days to weeks of life. • Of the group of diseases screened, the most common diseases • The earlier we can get to a diagnosis and treatment the better it is for are Cystic Fibrosis and Congenital Primary Hypothyroidism. the baby. If there are serious delays, there could be irreversible damage. Treatment would still prevent further harm. But the goal is to • In Nebraska 1:500 to 1:600 babies will have one of these prevent harm. screened diseases each year. • For some of the diseases just not knowing, can result in infant death. • Collectively in Nebraska we usually find between 50 ‐ 60 babies New moms might not recognize baby is not feeding well. If that baby every year with one of these diseases. has one of the metabolic diseases where “poor feeding” is a life threatening risk for triggering a metabolic crisis, they can die in the first days to weeks of life. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 5 6 Helping People Live better Lives. 1

10/23/2019 • • Methylmalonic Acidemia (Cbl B & C) (MMA) What diseases are screened? Argininosuccinic Acidemia (AA) • • Beta Ketothiolase Deficiency (BKT) Muccopolysaccharidosis Type I (MPS ‐ I) • • Multiple Carboxylase Deficiency (MCD) Biotinidase Deficiency (BIO) • Metabolic diseases (Amino Acid, Fatty Acid and Organic • • Phenylketonuria (PKU) Carnitine Uptake Defect (CUD) Acid disorders – 20) • • Pompe Disease (PD) Citrullinemia (CIT) • • Propionic Acidemia (PA) Congenital Adrenal Hyperplasia (CAH) • Endocrine diseases (2) • • Congenital Primary Hypothyroidism (CPH) Severe Combined Immune Deficiency (SCID) • • Hemoglobinopathies (3) • Sickle Beta Thalassemia (S Beta ‐ Thal) Cystic Fibrosis (CF) • • Galactosemia (GAL) Sickle Cell Disease (S Disease) • Lysosomal Storage Diseases (2) • • Sickle Hemoglobin C Disease (SC Disease) Glutaric Acidemia Type I (GAI) • • Trifunctional Protein Deficiency (TFP) Homocystinuria (HCY) • Other Metabolic (2) • • Tyrosinemia (TYR) Isovaleric Acidemia (IVA) • Immunodeficiency (1) • • Very Long Chain Acylcarnitine deficiency (VLCAD) Long Chain Hydroxy ‐ Acyl Co ‐ A Dehydrogenase Deficiency (LCHAD) • 3 ‐ Hydroxy ‐ 3 ‐ Methylglutaric Aciduria (3 ‐ HMG) • • Peroxisomal Storage Disease (1) Maple Syrup Urine Disease (MSUD) • 3 ‐ Methylcrotonyl ‐ CoA Carboxylase Deficiency (3 ‐ • Medium Chain Acylcarnitine Deficiency (MCAD) MCC) • Cystic Fibrosis (Not characterized as a single type of • • X ‐ linked Adrenoleukodystrophy (X ‐ ALD) Methylmalonic Acidemia (Mutase) (MMA) disease due to multiple systems affected). H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 7 8 • • Methylmalonic Acidemia (Cbl B & C) (MMA) Why is this relevant to Home Visitors Argininosuccinic Acidemia (AA) • • Beta Ketothiolase Deficiency (BKT) Muccopolysaccharidosis Type I (MPS ‐ I) • • Multiple Carboxylase Deficiency (MCD) bef before re babies are born? Biotinidase Deficiency (BIO) • • Carnitine Uptake Defect (CUD) Phenylketonuria (PKU) • • Pompe Disease (PD) Citrullinemia (CIT) • • Propionic Acidemia (PA) Congenital Adrenal Hyperplasia (CAH) • New mom’s have so much to absorb. • • Congenital Primary Hypothyroidism (CPH) Severe Combined Immune Deficiency (SCID) Preparing them ahead of time makes it • • Sickle Beta Thalassemia (S Beta ‐ Thal) Cystic Fibrosis (CF) easier for them after baby is born. • • Galactosemia (GAL) Sickle Cell Disease (S Disease) • • Sickle Hemoglobin C Disease (SC Disease) Glutaric Acidemia Type I (GAI) • • Homocystinuria (HCY) Trifunctional Protein Deficiency (TFP) • Home visitors can help prepare moms • • Tyrosinemia (TYR) Isovaleric Acidemia (IVA) before baby arrives with simple • • Long Chain Hydroxy ‐ Acyl Co ‐ A Dehydrogenase Very Long Chain Acylcarnitine deficiency (VLCAD) messages: Deficiency (LCHAD) • 3 ‐ Hydroxy ‐ 3 ‐ Methylglutaric Aciduria (3 ‐ HMG) • It’s the law for every baby to get it. • Maple Syrup Urine Disease (MSUD) • 3 ‐ Methylcrotonyl ‐ CoA Carboxylase Deficiency (3 ‐ • It’s one small heel prick. • Medium Chain Acylcarnitine Deficiency (MCAD) MCC) • • It can give your family and the baby’s doctor • X ‐ linked Adrenoleukodystrophy (X ‐ ALD) Methylmalonic Acidemia (Mutase) (MMA) valuable information. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 9 10 Wh Why is is this this re relevant to to Other ways Home Visitors can help Home Vi Hom Visit sitors af after bab babie ies ar are born born? • If there is a delay in getting the follow ‐ up, or any reluctance: • You can remind mom, it is important to do the follow ‐ • Results are available on average at about 5 days of age. up in case baby does have the disease, so treatment • Ask mom if her baby’s doctor provided the results to her. can begin as soon as possible. • Some baby’s need repeat screens. • If mom is experiencing anxiety about the results: • Ask mom if her baby needed to have a repeat screen or any • You can remind mom, it’s just a screen result, not a other follow ‐ up testing. If she hasn’t had it done, find out if diagnosis. It could be a false positive. But again, if her there are barriers. baby does have the disease, it’s treatable! The sooner • If mom has any paperwork for the follow ‐ up, it may we begin treatment, the better! explain why it’s needed. (NNSP provides Parent Fact Sheet to baby’s doctor to give to parent • If mom has more questions: when results need confirmatory testing.) • You can refer her to contact her baby’s doctor, • You may be able to help her understand the or to call the NNSP. information if she is unclear . H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 11 12 Helping People Live better Lives. 2

10/23/2019 National Nebraska Specific Resources Resources Baby’s First Test Very good site for parents and the general public. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 13 14 National Resource http://dhhs.ne.gov/Pages/Newborn ‐ Screening.aspx Juli Julie Lued Luedtk tke NewSTEPS DHHS Program Manager II Nebraska Newborn Screening Program National newborn screening resource center Good site for comparing differences between Julie.Luedtke@Nebraska.gov State Newborn Screening Programs (what they screen for, what it costs, etc.) 402 471 ‐ 6733 AFTER HOURS LINE 402 471 ‐ 0374 dhhs.ne.gov dh @NEDHHS NebraskaDHHS @NEDHHS H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. H el H el pi pi ng ng Peopl Peopl e e Li Li ve ve B et B et t t er er Li Li ves. ves. 15 16 Helping People Live better Lives. 3