Table 1 Inclusion and exclusion criteria

Inclusion criteria

Parents (couple) or mothers:

• At least 18 years old

• For mothers who are married or in a marriage-like relationship, their partners must also consent to participate. Mothers who are not married or in a marriage-like relationship will be able to participate individually

• Must be able to provide informed consent for their child and for themselves

• Must be fluent in English or Spanish

Parents (couple) or mothers:

• Pregnant with an intrauterine pregnancy of 18 weeks or longer

• Have been identified by medical personnel in the obstetric clinic as eligible candidates.

Newborns:

• Have no pending or positive prenatal diagnostic test results for congenital malformations or chromosomal abnormalities

• Have no complications at the time of birth or unexpected medical problems; however, depending on their clinical course, a sample may be obtained from infants whose parents have previously consented to the study once they have stabilized and been discharged from the neonatal intensive care unit, if the parents agree.

Infants and children from 0 to 5 years who are medically stable and

• Diagnosed with a known or suspected monogenic disorder, such as:

- Phenylketonuria

- Medium chain acyl-CoA-dehydrogenase deficiency (MCADD)

- Cystic fibrosis or CFTR-related metabolic syndrome

- Congenital hearing loss

- Other rare disorders such as primary ciliary dyskinesia or mucopolysaccharidosis

OR

• Had a positive newborn screen but follow-up testing was non-confirmatory (false positive)

Exclusion criteria