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Newborn Genetic Screening

Screening for selected inherited conditions in newborns and children.

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Newborn genetic screening

This screening panel assesses selected genetic conditions. Some variants are inherited; others may occur without a known family history. Screening estimates risk and does not diagnose a condition. Abnormal findings need clinical follow-up and may require confirmatory testing.

Some conditions are inherited

Family history can help a clinician assess whether screening is appropriate.

A condition can occur without a known family history

A family history may be absent even when a genetic condition is present.

Examples of conditions

Examples are educational and do not establish a diagnosis; symptoms and screening needs vary.

Metabolic

Phenylketonuria (PKU)

High phenylalanine can affect brain development if untreated.

About this condition

Signs can vary. Screening is not a substitute for clinical assessment.

Metabolic

Maple Syrup Urine Disease (MSUD)

Maple syrup urine disease is an inherited metabolic condition.

About this condition

Signs can vary. Screening is not a substitute for clinical assessment.

Metabolic and genetic screening

 
Metabolic screening
Genetic screening
Method
LC-MS/MS (tandem mass spectrometry)
Target-capture high-throughput sequencing (NGS)
Scope
Screens selected metabolic and endocrine conditions.
Screens selected conditions across metabolic/endocrine, hearing, blood, immune, and neuromuscular groups. The exact panel depends on the package.
Sample
Dried blood spots or at least 1 mL of blood, according to the collection protocol.
Collection timing
Follow the collection timing advised for the metabolic test.
Ask the clinician or laboratory about timing for the selected genetic panel.
Result timing
Confirm current turnaround time with the team.
For newborns and children, as advised by a clinician. An abnormal screening result is not a diagnosis and may require confirmatory testing.

When screening may be discussed

Metabolic screening

Discuss timing with a clinician

Recommended collection timing depends on the specific metabolic test and feeding history.

Genetic screening

Confirm the selected panel

Panel contents differ by package. Ask for the current condition list and discuss suitability with a clinician.

Examples of metabolic conditions

Examples only. Exact conditions included depend on the selected package; confirm the current list before testing.

Organic acid disordersExamples
  • Methylmalonic acidemia (MMA)
  • Propionic acidemia (PA)
  • Glutaric acidemia type I (GA-I)
  • Isovaleric acidemia (IVA)
  • Multiple carboxylase deficiency (MCD)
  • Beta-ketothiolase deficiency (BKT)
  • 3-methylcrotonyl-coenzyme A carboxylase deficiency (3MCCD)
  • 3-methylglutaconic aciduria (3MGA)
  • 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGGL)
  • 2-methyl-butyryl-coenzyme A dehydrogenase deficiency (2MBD)
  • 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (2M3HBA)
  • Isobutyryl-CoA dehydrogenase deficiency (IBD)
  • Malonyl-CoA decarboxylase deficiency (MAD)
Amino acid disordersExamples
  • Hyperphenylalaninemia (HPA)
  • Phenylketonuria (PKU)
  • Tetrahydrobiopterin deficiency (BH4D)
  • Maple syrup urine disease (MSUD)
  • Hypervalinemia (VAL)
  • Tyrosinemia type I (TYR-I)
  • Tyrosinemia type II (TYR-II)
  • Tyrosinemia type III (TYR-III)
  • Carbamoyl phosphate synthetase 1 deficiency (CPS1D)
  • N-acetylglutamate synthase deficiency (NAGSD)
  • Ornithine transcarbamylase deficiency (OTCD)
  • Citrullinemia type I (CITI)
  • Citrin deficiency (NICCD)
  • Argininosuccinate lyase deficiency (ASL)
  • Argininemia (ARG)
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHHS)
  • Hyperornithinemia (ORA)
  • Hypermethioninemia (MET)
  • Homocysteinemia (HCY)
  • Non-ketotic hyperglycinemia (NKH)
  • Histidinemia (HIS)
Fatty acid oxidation disordersExamples
  • Primary carnitine transport deficiency (PCD)
  • Carnitine palmitoyltransferase I deficiency (CPT-I)
  • Carnitine palmitoyltransferase II deficiency (CPT-II)
  • Carnitine/acylcarnitine translocase deficiency (CACT)
  • Short chain acyl-CoA dehydrogenase deficiency (SCADD)
  • Medium chain acyl-coenzyme A dehydrogenase deficiency (MCAD)
  • Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD)
  • Multiple acyl-coenzyme A dehydrogenase deficiency (MADD)
  • Long chain 3-hydroxyacyl CoA dehydrogenase deficiency (LCHAD)
  • Trifunctional protein deficiency (TFPD)
  • Medium-chain 3-ketoacyl coenzyme A thiolase deficiency (MCKAT)
  • Medium/short chain hydroxyl-CoA dehydrogenase deficiency (M/SCHADD)
  • 2,4-dienoyl-CoA reductase deficiency (DCRD)
  • Ethyl malonate encephalopathy (EE)

Screening panel scope

Depending on the selected panel, screening may cover conditions in these broad groups:

Metabolic and endocrine conditions

Hearing conditions

Blood disorders, including thalassemia

Immune conditions

Neuromuscular conditions

The exact conditions, genes, and methods vary by package. Ask for the current panel list. Screening estimates risk; abnormal findings need clinical follow-up and may require confirmatory testing.

Before choosing a screening panel

Confirm the panel contents

Panel coverage varies by package. Ask the team for the current written list of conditions and genes before testing.

Screening is not diagnosis

An abnormal screening finding needs clinical follow-up and may require confirmatory testing.

Collection and timing

Follow the collection instructions and timing confirmed for the selected package.

Genetic counseling

Genetic counseling and informed consent are recommended; ask whether counseling is included in your package.

Who may discuss newborn genetic screening?

Newborns and children whose clinician recommends screening.

Children with a family history of a genetic condition, after clinical discussion.

Newborn genetic screening process

1

Consent

Review the information and provide informed consent.

2

Sample collection

A healthcare professional collects the sample using the confirmed collection protocol.

3

Genetic analysis

The sample is analyzed using target-capture high-throughput sequencing.

4

Results report

Confirm the current result timing with the team.

5

Genetic counseling

Genetic counseling is recommended; ask the team whether it is included in the selected package.