Md. Code Regs. 10.10.13.17

Current through Register Vol. 51, No. 25, December 13, 2024

Section 10.10.13.17 - Testing - First-Tier

A. The Department's public health laboratory shall test, using first-tier tests, appropriately timed and collected blood-spot specimen of a newborn infant's blood for the disorders listed in Regulation .12C of this chapter.

B. Full-Term Healthy Newborn Infants.

(1) If a newborn infant is born at term and is healthy, the Department's public health laboratory shall conduct a:

(a) First screening using first-tier tests to detect the disorders listed in Regulation .12C of this chapter on a blood-spot specimen collected when the full-term healthy newborn infant is between 24 and 48 hours old; and

(b) Second screening using first-tier tests on a blood-spot specimen collected when the full-term healthy infant is between 10 and 14 days old.

(2) If the first blood-spot specimen is collected when a full term healthy newborn infant is younger than 24 hours old, the Department's public health laboratory shall conduct a:

(a) Second screening using first-tier tests to detect the disorders listed in Regulation .12C of this chapter on a blood-spot specimen collected when the newborn infant is between 24 hours and 7 days old; and

(b) Third screening using first-tier tests on a blood-spot specimen collected when the full-term healthy infant is between 1 and 4 weeks old.

C. Premature or 111 Newborn Infant.

(1) If a newborn infant who is born prematurely or expected to be ill for more than 14 days was younger than 24 hours old when the blood-spot specimen was collected for a first screening, the Department's public health laboratory shall conduct a:

(a) Second screening using first-tier tests to detect the disorders listed in Regulation .12C of this chapter when the newborn infant is between 24 hours and 3 days old; and

(b) Third screening using first-tier tests when the newborn infant is between 7 days and 14 days old to screen for:

(i) Amino acid disorders as specified in Regulation .12C(11)-(24) of this chapter;

(ii) Acylcarnitine disorders as specified in Regulation .12C(25)-(52) of this chapter;

(iii) Congenital hypothyroidism as specified in Regulation .12C(4) of this chapter ; and

(iv) Severe combined immunodeficiency, as specified in Regulation .12C(54) of this chapter.

(2)If a newborn infant who is born prematurely or expected to be ill for more than 14 days was 24 hours old or older at the time the newborn infant's blood-spot specimen was collected for a first screening, the Department's public health laboratory shall perform a second screening to screen for:

(a) Amino acid disorders as specified in Regulation .12C(11)-(24) of this chapter;

(b) Acylcarnitine disorders as specified in Regulation .12C(25)-(52) of this chapter;

(c) Congenital hypothyroidism as specified in Regulation .12C(4) of this chapter ; and

(d) Severe combined immunodeficiency, as specified in Regulation .12C(54) of this chapter.

(3) If a newborn infant was transfused before the blood-spot specimen was collected for a first screening, the Department's public health laboratory shall conduct, in addition to any other screenings specified in §B(1) and (2) of this regulation, a fourth screening using first-tier tests on a blood-spot specimen collected 4 months after a newborn infant's last transfusion to screen for:

(a) Hemoglobin as specified in Regulation .12C(7)-(10) of this chapter;

(b) Biotinidase as specified in Regulation .12C(1) of this chapter; and

(c) Galactose-1-P-uridyl-1-transferase as specified in Regulation .12C(3) of this chapter.

Md. Code Regs. 10.10.13.17

Regulations .17 adopted as an emergency provision effective January 1, 2009 (36:2 Md. R. 97); adopted permanently effective March 23, 2009 (36:6 Md. R. 490); amended effective 44:8 Md. R. 404, eff. 4/24/2017