Expansion of newborn screening programs using automated tandem mass spectrometry

Biochemistry testing associated with pregnancy and the newborn period—A lot has changed since you were a baby!

“…The cumulative frequency of such disorders is about 1:5000 [166]. Pilot programs conducted in the mid-1990s established appropriate analytical cutoffs for each analyte to minimize false positive results and to establish false negative rates.…”

Biochemistry testing associated with pregnancy and the newborn period—A lot has changed since you were a baby!

“…The cumulative frequency of such disorders is about 1:5000 [166]. Pilot programs conducted in the mid-1990s established appropriate analytical cutoffs for each analyte to minimize false positive results and to establish false negative rates.…”

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review

“…2 A number of variant forms of PKU also exist, including patients with mild to moderate HPA who may or may not require dietary treatment and biopterin cofactor variant forms that require treatment with tetrahydrobiopterin. 29 Classical PKU is the severe form of the disease, resulting from a complete deficiency of phenylalanine hydroxylase. 1…”

The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism

“…To begin, blood specimens are punched as single or multiple punches of 3/16-or 1/8-inch disks from blood dried on filter papers. These blood spot-containing filter paper cards are referred to as Guthrie cards (10,18,58). These disks are then placed into microtiter plates or tubes, where methanol containing isotope-enriched internal standards is added.…”

“…MS/MS, as currently employed in nearly all biochemical genetics and NBS laboratories for the measurement of small molecules, is configured with ESI and quadrupole mass analyzers (18,58,72,83,86,90,99,106). Early MS/MS systems used fast-atom or fast-ion bombardment (FAB/FIB) ionization configurations (8,48,51,52,60,89).…”

“…Precise measurement of any of these species individually requires the addition of a chromatographic technique. Nevertheless, the ability of MS/MS to detect an elevation of Leu (or the sum of these accumulating branched-chain species) as compared to controls is excellent (18,59). Yet, just as hyperphenylalaninemia may be confused with PKU, hyperleucinemia may also be mistaken for MSUD.…”

Biochemistry testing associated with pregnancy and the newborn period—A lot has changed since you were a baby!

“…The cumulative frequency of such disorders is about 1:5000 [166]. Pilot programs conducted in the mid-1990s established appropriate analytical cutoffs for each analyte to minimize false positive results and to establish false negative rates.…”

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review

“…2 A number of variant forms of PKU also exist, including patients with mild to moderate HPA who may or may not require dietary treatment and biopterin cofactor variant forms that require treatment with tetrahydrobiopterin. 29 Classical PKU is the severe form of the disease, resulting from a complete deficiency of phenylalanine hydroxylase. 1…”

The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism

“…To begin, blood specimens are punched as single or multiple punches of 3/16-or 1/8-inch disks from blood dried on filter papers. These blood spot-containing filter paper cards are referred to as Guthrie cards (10,18,58). These disks are then placed into microtiter plates or tubes, where methanol containing isotope-enriched internal standards is added.…”

“…MS/MS, as currently employed in nearly all biochemical genetics and NBS laboratories for the measurement of small molecules, is configured with ESI and quadrupole mass analyzers (18,58,72,83,86,90,99,106). Early MS/MS systems used fast-atom or fast-ion bombardment (FAB/FIB) ionization configurations (8,48,51,52,60,89).…”

“…Precise measurement of any of these species individually requires the addition of a chromatographic technique. Nevertheless, the ability of MS/MS to detect an elevation of Leu (or the sum of these accumulating branched-chain species) as compared to controls is excellent (18,59). Yet, just as hyperphenylalaninemia may be confused with PKU, hyperleucinemia may also be mistaken for MSUD.…”

Biochemistry testing associated with pregnancy and the newborn period—A lot has changed since you were a baby!

“…The cumulative frequency of such disorders is about 1:5000 [166]. Pilot programs conducted in the mid-1990s established appropriate analytical cutoffs for each analyte to minimize false positive results and to establish false negative rates.…”

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review

“…2 A number of variant forms of PKU also exist, including patients with mild to moderate HPA who may or may not require dietary treatment and biopterin cofactor variant forms that require treatment with tetrahydrobiopterin. 29 Classical PKU is the severe form of the disease, resulting from a complete deficiency of phenylalanine hydroxylase. 1…”

The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism

“…To begin, blood specimens are punched as single or multiple punches of 3/16-or 1/8-inch disks from blood dried on filter papers. These blood spot-containing filter paper cards are referred to as Guthrie cards (10,18,58). These disks are then placed into microtiter plates or tubes, where methanol containing isotope-enriched internal standards is added.…”

“…MS/MS, as currently employed in nearly all biochemical genetics and NBS laboratories for the measurement of small molecules, is configured with ESI and quadrupole mass analyzers (18,58,72,83,86,90,99,106). Early MS/MS systems used fast-atom or fast-ion bombardment (FAB/FIB) ionization configurations (8,48,51,52,60,89).…”

“…Precise measurement of any of these species individually requires the addition of a chromatographic technique. Nevertheless, the ability of MS/MS to detect an elevation of Leu (or the sum of these accumulating branched-chain species) as compared to controls is excellent (18,59). Yet, just as hyperphenylalaninemia may be confused with PKU, hyperleucinemia may also be mistaken for MSUD.…”