Afp screening program

It is important to discuss the risks and benefits of further testing thoroughly with your healthcare provider. Your healthcare provider will help you evaluate if the benefits from the results could outweigh any risks from the procedure.

Cunningham, F. Gary, et al, Ch. What is a screening test and how is it done? When is AFP Test performed? All pregnant women should be offered the AFP screening, but it is especially recommended for: Women who have a family history of birth defects Women who are 35 years or older Women who used possible harmful medications or drugs during pregnancy Women who have diabetes What does the AFP test look for? Abnormal levels may also be a result of the following: A multiples pregnancy Pregnancies that are more or less advanced than thought What do AFP results mean?

Abnormal test results warrant additional testing for making a diagnosis. What are the risks and side effects of AFP to the mother or baby? What about further testing? Performing further testing allows you to confirm a diagnosis and then provides you with certain opportunities: Pursue potential medical interventions that may exist Begin planning for a child with special needs Start addressing anticipated lifestyle changes Identify support groups and resources Make a decision about carrying the child to term Some individuals or couples may elect not to pursue further testing for various reasons: They are comfortable with the results no matter what the outcome is Because of personal, moral, or religious reasons, making a decision about carrying the child to term is not an option Some parents choose not to allow any testing that poses any risk of harming the developing baby It is important to discuss the risks and benefits of further testing thoroughly with your healthcare provider.

Want to Know More? Can I get pregnant if…? Share this post:. Share on facebook Facebook. Share on twitter Twitter. Share on linkedin LinkedIn. Share on email Email. Similar Post. Routine follow-up includes a standard neurologic and medical examination with specific attention to hepatomegaly, cardiovascular health, and neurologic function. A medical history is obtained, including information on hospitalizations, emergency department visits, medications, treatment, and developmental milestones.

Results from blood tests such as liver function tests, electrolyte measurements, and complete blood count; cardiac studies, including echocardiography and electrocardiography; and an ophthalmologic examination can provide additional data on the associated effects of a disorder.

When an infant is ill or showing possible symptoms of metabolic crisis e. Developmental and neuropsychological evaluations are important for routine follow-up of children with metabolic disorders.

When possible, psychologists familiar with metabolic disorders should perform the evaluation because they may be able to more easily recognize the subtle warning signs and symptoms associated with the disorder.

This article updates a previous article on this topic by Waisbren. Data Sources: A PubMed search was completed using the terms expanded newborn screening, neonatal screening methods, and metabolism inborn errors.

The search included randomized controlled trials, meta-analyses, clinical trials, and clinical reviews. Preventive Services Task Force. Search dates: November 1, , and December 31, Already a member or subscriber? Log in. Interested in AAFP membership? Learn more. Reprints are not available from the author. Genet Med. Recommended Uniform Screening Panel. Accessed March 1, Scriver CR, ed. Ross LF. Mandatory versus voluntary consent for newborn screening? Kennedy Inst Ethics J.

Current status of newborn screening worldwide: Semin Perinatol. Informing parents about positive newborn screen results: parents' recommendations. J Child Health Care. Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts. Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.

J Inherit Metab Dis. Newborn screening and the obstetrician. Obstet Gynecol. Impact of false-positive newborn metabolic screening results on early health care utilization. Waisbren SE. Saudubray JM. Walter JH, eds. Inborn Metabolic Diseases. New York, NY: Springer, Johns Hopkins University. Online mendelian inheritance in man. An online catalog of human genes and genetic disorders. Accessed September 1, Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Dev Disabil Res Rev. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. American College of Medical Genetics. Newborn screening fact sheets. New England Consortium of Metabolic Programs. Boston Children's Hospital. This content is owned by the AAFP. A person viewing it online may make one printout of the material and may use that printout only for his or her personal, non-commercial reference.

This material may not otherwise be downloaded, copied, printed, stored, transmitted or reproduced in any medium, whether now known or later invented, except as authorized in writing by the AAFP. Contact afpserv aafp. Want to use this article elsewhere? Get Permissions. Read the Issue. Sign Up Now.

Jun 1, Issue. Author disclosure: No relevant financial affiliations. C 1 , 2 Parents should be informed in person of positive newborn screening results and the need for retesting. C 6 , 7 The American College of Medical Genetics and Genomics action sheets and algorithms can be used to determine appropriate steps after a positive newborn screening result.

C 16 Emergency care for infants with metabolic disorders should be directed by a metabolic subspecialist in collaboration with emergency personnel and the family physician. Enlarge Print Table 1. Table 1. Enlarge Print Table 2. Table 2. Enlarge Print Table 3. Table 3. Enlarge Print Table 4. Table 4. Enlarge Print Table 5.

Table 5. Enlarge Print Table 6. Table 6. Read the full article. Get immediate access, anytime, anywhere. It measures the back of the fetus' neck. This measurement helps screen for Down Syndrome. Note: the Screening Program does not pay for NT ultrasounds Patients with first trimester blood specimens and NT will get a preliminary risk assessment for chromosomal abnormalities in the first trimester.

This preliminary risk will be revised when the second trimester blood specimen is received. More Information. Should you consider Prenatal Diagnosis?