Newborn screening: the blood test for your baby

It is the blood test taken from a newborn baby to detect a group of hereditary diseases early. In Puerto Rico it is ordered by Act 84-1987, which also names ten conditions the program’s regulation must include compulsorily. Two things surprise almost every family: that you can object, but only by sworn declaration and within the first 48 hours of life; and that the cost is paid by the family, through insurance or out of pocket.

The law reaches every newborn in Puerto Rico, with no exception for place of birth: the duty falls on the person in charge of the public or private health facility, on any other entity where a birth takes place, or on the physician caring for the newborn. The only way out the law contemplates is the objection, and it comes with its own form and its own deadline.

• To object: a sworn declaration addressed to the Department of Health, stating the reasons for the objection.Verified against the official source
• To object: to submit it within the first forty-eight (48) hours of the newborn’s life.Verified against the official source
• To object: to be the person who has the newborn in their custody. The law writes the objection for “those persons who object to the tests being performed on a newborn in their custody.”Verified against the official source

• Sworn declaration stating the reasons for the objection. The law names no form for this.

1. 1

   Step 1: The test is taken from every newborn

   The law does not frame it as an offer. It says that, as of the Program Regulation’s effective date, “blood samples shall be taken from every newborn in Puerto Rico to promptly detect the presence of any of the conditions included in that Regulation.” That is the starting point for everything else.

2. 2

   Step 2: The ten conditions the regulation must include

   It is worth having the list because it is the legal floor, not the ceiling. The law orders the Regulation to include “compulsorily, but shall not be limited to” these ten: congenital hypothyroidism; hemoglobinopathies; congenital adrenal hyperplasia; galactosemia; aminoacidopathies, which include phenylketonuria; organic acidemias; fatty acid oxidation disorders; cystic fibrosis; biotinidase deficiency; and severe combined immunodeficiency, SCID. The regulation may cover more, which is why we do not publish a closed list here of what is screened today.

3. 3

   Step 3: Objecting: sworn declaration and 48 hours

   This is the part almost nobody learns in time, and the deadline is what makes it hard. The law says: “Those persons who object to a newborn in their custody undergoing the tests for the detection and diagnosis of hereditary diseases imposed by Law, must submit a sworn declaration to the Department of Health stating their reasons for that objection within the first forty-eight (48) hours of the newborn’s life.” It is not a signature on a hospital form: it is a sworn declaration, addressed to the Department of Health, with reasons, and within two days of life.

4. 4

   Step 4: Who has the duty to make the arrangements

   The law spreads the duty broadly, which is why it also covers births outside a hospital: “Every person in charge of a public or private health facility or any other entity where a birth takes place, or the physician caring for a newborn, must make the pertinent arrangements so that within the term established in the Program’s Regulation, a blood sample is taken from the newborn.” The concrete term lives in the Regulation and we do not publish it.

5. 5

   Step 5: Who pays: the family

   We say it in full because it surprises. “Each family shall be responsible for defraying the cost of the screening tests established by the Program’s Regulation, through their medical insurance or their own funds, whether by direct payment or with the cost included within the payment for the maternity services of the hospital where the infant is born.” The law sets no amount anywhere, so there is no price here to publish; what there is, is an answer to why it shows up on the maternity bill.

6. 6

   Step 6: The list can grow, and why

   This explains why today’s screening may be broader than the law’s ten conditions. The Hereditary Diseases Council has the function of “determining the hereditary conditions for which laboratory or medical tests shall be required (…) based on the ‘U.S. Recommended Uniform Screening Panel’ Guidelines or any later guidelines or editions that by federal mandate replace them,” and must also examine from time to time the existing medical information to determine which conditions should be included.

7. 7

   Step 7: Confidentiality of the results

   The law demands it of the regulations in clear terms: the norms and regulations adopted “must contain provisions to guarantee the confidentiality of the results of the laboratory or medical tests performed and the privacy of the citizens submitted to them.” It also orders establishing oversight parameters so hospital institutions with births perform the tests following the Department’s protocols, and guidelines for the care and follow-up of positive cases and for offering genetic counseling.

8. 8

   Step 8: What happens if it is not complied with

   The law closes with a penalty and it is worth quoting because it is not symbolic: “Any person who violates the provisions of this act or of the regulations adopted under it shall be guilty of a misdemeanor and upon conviction shall be punished with imprisonment for a term not exceeding six (6) months or a fine not exceeding five hundred (500) dollars or both penalties at the court’s discretion.”

The objection is submitted to the Department of Health, because the law so provides. Taking the sample is coordinated by the health facility where the birth occurs — or the entity where it occurs, or the physician in charge of the newborn — not by the family. The Program lives inside the Department of Health and the Hereditary Diseases Council advises it. If your matter is registering the birth or correcting the certificate, that has its own guide here.

• Believing it is enough to tell the hospital no: the law requires a sworn declaration to the Department of Health, with reasons.
• Letting the deadline pass: the objection goes within the first forty-eight (48) hours of the newborn’s life.
• Thinking the government pays for the test: the law places the cost on each family, through medical insurance or their own funds.
• Assuming only the law’s ten conditions are screened: they are the compulsory minimum, and the Council may add more.
• Believing a birth outside a hospital is excluded: the duty reaches any entity where a birth takes place and the physician caring for the newborn.
• Assuming the results are public: the law requires the regulations to guarantee the confidentiality of the results and the person’s privacy.

These are the government pages this guide is based on.

• Departamento de Salud de Puerto Rico

  Salud

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