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Newborn screening for PKU and congenital hypothyroidism in Latvia
R Lugovska1, P Vevere, R Andrusaite
1Medical Genetics Clinic of Medical Academy of Latvia, Latvian State Medical Genetics Center, State Children's Hospital Gailezers, Riga. rita@mail.bkc.lv
Insights
Latvia
Area of Science:
- Medical Genetics
- Public Health
- Neonatal Screening
Background:
- Newborn screening in Latvia began with a pilot study in 1980.
- Mass screening for phenylketonuria (PKU) started in 1987, and for congenital hypothyroidism (CH) in 1996.
- The Latvian State Medical Genetics Center (SMGC) screens approximately 25,000 newborn samples annually.
Purpose of the Study:
- To evaluate the efficiency and outcomes of newborn screening programs in Latvia.
- To report the incidence of phenylketonuria (PKU) and congenital hypothyroidism (CH) in Latvia.
- To detail the methodologies used for PKU and CH screening.
Main Methods:
- PKU screening utilizes a fluorometric method, followed by HPLC and PAH gene mutation analysis.
- CH screening involves measuring thyroid stimulating hormone (TSH) via fluoroimmunoassay, with T3 and T4 for confirmation.
- The SMGC handles specimen analysis, repeat testing, and follow-up for referred newborns.
Main Results:
- The overall efficiency of the screening program is approximately 97%.
- PKU incidence in Latvia is 1:8,700 births, with 38 of 51 detected cases identified through neonatal screening.
- CH screening identified 6 confirmed cases out of 37,380 newborns screened, with an incidence of approximately 1:6,450.
Conclusions:
- Newborn screening programs in Latvia are effective in detecting PKU and CH.
- The established incidence rates provide valuable data for public health planning.
- Continued monitoring and genetic analysis are crucial for managing these conditions.
Abstract:
The newborn screening program in Latvia was started in 1980 as pilot study project. Mass screening for phenylketonuria (PKU) in the whole republic was started in 1987, but for congenital hypothyroidism (CH) it begun in 1996. Last two years the Latvian State Medical Genetics Center (SMGC) screened nearly 25,000 newborn dried blood specimens per year. Approximately 25% are repeat and control specimens. Efficiency of the screening program is nearly 97%. Fluorometric method is used for PKU screening, followed by amino acid analysis (HPLC) and analysis of DNA samples for mutations of the PAH gene. Most of the 51 Latvian PKU patients detected from 1980 to 1998 were selected by neonatal screening (38), while the others (13) were diagnosed during genetic counseling. The incidence of PKU in Latvia is 1:8,700 births. CH screening is based on measurement of thyroid stimulating hormone (TSH), using fluoroimmunoassay method, with cut-off value 10 mlU/l, as the primary screening test, and T3 and T4, as confirmatory tests for diagnosis. From 38,684 newborns 37,380 were screened for CH in 1996 and 1997. From these 1,438 (3.8%) newborns were recalled because of initial elevation of TSH level. From these 85 (0.2%) newborns had elevated TSH level during first two weeks of life and were referred to SMGC for repeat testing and follow-up. The diagnosis of CH has been confirmed in 6 babies. The incidence of CH in Latvia is about 1:6,450.
