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Newborn Screening

Genetic Screening

The State of New Mexico mandates two genetic screens be collected on every newborn. The first is a blood test that is initially done between 24-48 hours of age, and the second blood test is done 10-14 days after birth.

The New Mexico Newborn Screening Program (NMNSP) offers screening for genetic, metabolic, endocrine, and other disorders and provides services to over 22,000 newborns and their families annually. Early diagnosis and treatment enhance the outcomes of infants, support their development, and provide families with resources to help them effectively manage any identified conditions.

NMNSP partners with Mountain States Genetics Regional Collaborative and has contracted with Oregon State Public Health Laboratory for testing.

The New Mexico Newborn Screening Programs screens for the following*:

*Newborn genetic screening results may identify medical conditions, including secondary conditions that are not listed below. Any of these conditions that are identified during screening will be included in a result report. If it is within the discretion of an infant’s health care provider and parents or legal guardians to determine what, if any medical follow-up is needed for these conditions.

Amino Acid Disorders

  • Arginoinosuccinate lyase deficiency
  • Citrullinemia, Type I
  • Maple syrup urine disease
  • Homocystinuria
  • Phenylketonuria
  • Tyrosinemia, Types I, II, and III
  • Arginase deficiency

Endocrine Disorders

  • Congenital adrenal hyperplasia (CAH)
  • Primary congenital hypothyroidism (CH)

Fatty Acid Oxidation Disorders

  • Carnitine uptake deficiency
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Very long chain acyl-CoA dehydrogenase deficiency
  • Long chain 3 hydroxyacyl-CoA dehydrogenase deficiency
  • Trifunctional protein deficiency
  • Short chain acyl-CoA dehydrogenase deficiency
  • Glutaric acidemia Type II
  • Carnitine palmitoyl transferase deficiency, Types I and II
  • Carnitine acylcarnitine translocase deficiency

Hemoglobin Disorders

  • Hemoglobinopathies (Var Hb)
  • S, Beta-thalassemia (Hb S/ßTh)
  • S, C disease (Hb S/C)
  • Sickle cell anemia (Hb SS)

Organic Acid Conditions

  • Propionic acidemia
  • Methylmalonic acidemia
  • Isovaleric acidemia
  • 3-methylcrotonyl CoA carboxylase deficiency
  • 3-hydroxy-3-methylglutaryl CoA lyase deficiency
  • Multiple carboxylase deficiency
  • Beta-ketothiolase deficiency
  • Glutaric acidemia, Type I
  • Malonic acidemia
  • Isobutyrl-CoA dehydrogenase deficiency
  • 2-methylbutyryl CoA dehydrogenase deficiency
  • 3-methylglutaconyl CoA hydratase deficiency
  • 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency

Lysosomal Storage Disorders

  • Pompe
  • Mucopolysaccharidosis Type I
  • Fabry (alphagalactosidase A deficiency)
  • Gaucher (glucocerebrosidase deficiency)

Other Disorders

  • Biotinidase deficiency (BIOT)
  • Galactosemia (GALT)
  • Cystic fibrosis (CF)
  • Severe combined immunodeficiency (SCID)
  • Hearing Deficiency
  • Critical Congenital Heart Disease (CCHD)
  • Spinal Muscular Atrophy (SMA)
  • X-linked Adrenal Leukodystrophy (XALD)

Brochures

Follow Up Services:

CMS provides clinical long-term follow up for children that have been identified with a disorder on the newborn screening panel. Children are followed from the time of diagnosis to the age of 21.

Newborn Genetic Screening nurses are involved in the process of screening, follow, education, case coordination, and medical care referrals.

CMS has social workers in public health offices throughout the state who provide service coordination for children and youth with special healthcare needs.


Hearing Screening

All birthing hospitals in New Mexico are required to screen newborns for hearing loss prior to discharge from the hospital. The Newborn Hearing Screening Program assists families in accessing needed services when infants require follow-up after screening.

Significant hearing loss is the most common condition present at birth. About 80 New Mexico infants are born each year with a significant hearing loss. The consequences of hearing loss of any severity or type are profound for children and their families.

Early identification of hearing loss, fitting of high-quality aids, cochlear implants and comprehensive early intervention services can minimize or avoid many negative outcomes experienced by children with hearing loss including improved school performance, communication skills, and speech-language development, better social skills and emotional health; decreased family stress; and improved quality of life.

Early Intervention

Early intervention is a system of services available to children under the age of 3 who are eligible and may have a health condition that is likely to lead to non-typical development.

The Early Childhood Education and Care Department, Family Infant Toddler (FIT) Program has had a protocol in place since September 2001 for consultation and services from the New Mexico School for the Deaf (NMSD) Early Intervention Program for infants and toddlers who are deaf or hard of hearing. The goal of this protocol is to ensure that specific expertise is available for families of deaf or hard of hearing infants and toddlers and to the other early intervention providers who may also be providing services.

The Newborn Hearing Screening Program refers children with confirmed hearing loss to the NMSD Early Intervention and Involvement Division. The Newborn Hearing Screening Program also refers families to the New Mexico School for the Deaf Early Intervention & Involvement Division when their children have a suspected hearing loss and are going through the diagnostic process. The NMSD Early Intervention and Involvement Division will provide information and support to the family until the infant’s hearing loss is either confirmed or ruled out.

The Newborn Hearing Screening Program refers children with conductive hearing loss that persists during the first few months of life and is not resolved by six months of age to their local early intervention program.

Documents

Families

The Newborn Hearing Screening Program makes phone and letter contact with families of infants who need follow-up support. The program works collaboratively with the parents and the medical home to assure that infants receive needed audio and early intervention services and support.

The program provides families with information, assists with scheduling audiological appointments, and makes needed referrals to early intervention services, etc.

Documents

Program Advisory Council

In collaboration with stakeholders that include but are not limited to parents, screening providers, physicians, audiologists, early intervention providers, the New Mexico Newborn Hearing Screening Program convenes this council with the purpose to ensure that all the children in New Mexico receive optimum services related to a statewide newborn hearing screening and intervention program.

For more information about this council, please contact Reanna Garcia at 505-476-8817 or via email at Reanna Garcia.

Resources