Screening Tests and the Diagnostic Process
Overview
What is a Screening Test?
Prenatal Tests
During pregnancy, all women will have certain blood and urine screening tests. Blood tests will be used to confirm the pregnancy, determine the mother’s blood type and Rh factor, and determine iron, hemoglobin and glucose levels. These blood tests will be repeated to see if the mother is developing anemia or diabetes during the pregnancy. When testing for diabetes, mothers may be asked to fast (go without food) for a period of time, or they may be given a glucose (sugary) drink before having their blood tested for glucose levels. Uncontrolled diabetes during pregnancy can lead to increased risks for the developing fetus and child, including miscarriage, stillbirth, high blood pressure, breathing difficulties, jaundice, and low blood sugar. Rh Incompatibility can cause jaundice, lethargy, and death. Anemia can lead to low birth weight and premature birth. If the blood tests reveal that a pregnant mother has diabetes, Rh incompatibility, or anemia, she can do certain things, such as taking prescribed medications or modifying her diet during the pregnancy, to help prevent problems for the developing child.
Ultrasound (or sonogram) exams are used to view images of the developing fetus. They are used more often in later pregnancy to examine or measure parts of the fetus, such as the head, arms, legs, and heart. Parents may be more familiar with the tests being used to determine the gestational age or sex of the fetus, but there are other types of ultrasound exams that use different equipment, placed in different locations, that can be helpful in identifying structural birth defects, high or low levels of amniotic fluid, and abnormalities in the uterus or placenta. Sometimes, when certain medical problems are suspected, an ultrasound exam will be used to help guide a needle to gather umbilical cord blood for a cordiocentesis, or percutaneous umbilical cord blood sampling (PUBS) test, that can detect infections, blood levels, and malformations.
Parents may be referred to a genetic counselor before or during pregnancy to discuss potential risks of passing on genetic conditions and ways of treating known genetic conditions. Many genetic conditions can be found through testing the growing fetus during pregnancy (see: Newborn Disorders). Genetic testing can be done using a few different screening or diagnostic tests. Chorionic villus sampling (CVS) tests cells from the placenta early in pregnancy to diagnose genetic conditions or chromosomal abnormalities such as cystic fibrosis and Down syndrome. Amniocentesis is done later in pregnancy to diagnose some of the same genetic conditions as CVS testing, as well some birth defects that are found in blood test screening. Late in pregnancy, the amniocentesis test can determine if the lungs of the fetus are mature enough before delivery and help doctors determine the best treatment options.
On or after the 28th week of pregnancy, and during labor, the non-stress test may be used to check fetal movement, heart rate, and contractions. The monitoring is done by attaching belts to the mother’s abdomen to determine if the fetus is reacting well to contractions by watching increases and decreases in movement and heart rate. This test is non-invasive and does not stress the fetus. When an ultrasound exam is combined with a non-stress test, a biophysical profile can be determined, including heart rate, breathing rate, movements, muscle tone, and amniotic fluid levels. If the non-stress test indicates a problem, it may be followed by a stress test, using pitocin to make the uterus contract, so that the doctors can determine if the fetus is having distress and determine the best plan of action.
In the last few weeks of pregnancy, women will be tested for Group B streptococcus (also referred to as beta strep). Group B streptococcus does not always cause symptoms. To see if a woman carries the bacteria, a swab is taken of her vagina and rectum. Those women who test positive (about 1 in 4) will be treated with antibiotics before delivery so that it is not transmitted to the infant during delivery. Infants that are exposed to the Group B streptococcus bacteria can develop an infection that can enter the blood, lungs, and spinal fluid, potentially causing severe complications. It can affect breathing, kidney function, and blood pressure. Infected infants are also treated with antibiotics.
Newborn/Infant Screening
Infants are screened or checked for genetic and chronic conditions using a blood test done two or three times shortly after birth. These tests are sometimes called “newborn screening” or “blood-spot screening” because the tests use a card with five circles of blood spots. The cards are run through machines that look for some fairly common and some rare conditions, such as cystic fibrosis, phenylketonuria (PKU), sickle cell disease, or congenital hypothyroidism (see: Newborn Disorders). It is important to catch these conditions early since they often require life-long treatments and some require special diets. This routine testing does not offer the most accurate or final tests. If a child tests positive for a condition or disease, the clinician will usually order additional, more accurate tests before the primary care clinician can make a diagnosis. Sometimes infants may need to visit a specialist for further examinations or reading of these tests.
Newborn infants also have their hearing screened or tested. Since infants are not able to talk or indicate that they can hear, these tests check for nerve responses. The tests, using electronic equipment, can be done while the infant sleeps. For more details, see Universal Newborn Hearing Screening (My Baby's Hearing). Infants who do not “pass” the first screening tests will have more accurate follow-up tests that can better determine if there is any potential hearing impairment. If there is some type of hearing impairment, specialists will be involved in determining what type, if there is a particular cause, and how it will be treated or managed. (See: Hearing Testing).
Developmental Surveillance, Screening, and Diagnosis
In the context of child development, “surveillance” refers to the flexible and continuous process of asking about a child's growth and watching the child reach milestones (see: Developmental Screening). The primary clinician in the Medical Home (see: About Medical Home) will often ask about feeding, playing, and talking as part of this process. While these questions may seem like everyday conversations, they can offer clues about appropriate development or possible developmental delays. The clinician also directly observes the child as part of this process. “Surveillance” is not the same as “screening,” but the terms are often confused, even by primary care clinicians.
Screening is a more formal process of monitoring developmental milestones. The Medical Home team will use tested, standardized screening tools at specific visits to see if the child has reached or missed key milestones. Sometimes, parents fill out the forms for the screening tool. Other times, the nurse or doctor asks questions and fills out the forms. The primary clinician reviews the forms, often with a total score, and decides if the child is developing on schedule or needs a closer look. Screening does not diagnose a developmental delay, but it gives clues if there may be something that needs further testing, assessment, or evaluation.
If a primary clinician notices problems with the developmental screening, he or she will refer the child for further assessment. The assessment and the provider doing the assessment will be specific to the child’s possible problems. A common first step is a referral to a local Early Intervention Part C Program (EI). The EI provider will probably do additional testing, assessments, and interventions to help the child maintain and gain skills. Sometimes, EI providers are also Early Head Start providers, who serve children up to age three. It’s not unusual for children to receive services from Early Intervention or Early Head Start providers before a diagnosis has been determined. The child may also be referred to a developmental pediatrician, who specializes in diagnosing and treating developmental delays. For school-age children, if additional information is needed about school skills, a school psychologist may be involved in the assessment and diagnosis.
Ramon’s mother brings Ramon for his 15-month well child visit. At that visit, Dr. Black asks how many words Ramon can say. Dr. Black observes that Ramon responds to his name and babbles but does not speak any recognizable words. This is developmental surveillance. Dr. Black is a little worried that Ramon has a language delay, because most typically-developing children have started saying words by this age. The physician encourages his mother to read and talk to him a lot over the next 3 months. He also sends Ramon for a hearing test (see: Hearing Tests (My Baby's Hearing)), a diagnostic test meant to rule out hearing loss as the reason Ramon doesn’t speak recognizable words. The results of the test indicate that Ramon hears just fine.
At Ramon’s 18-month well child visit, Dr. Black follows up on his initial concerns and asks Ramon’s parents to fill out forms for two screening tests. One of these is a developmental screening test, such as the Parent's Evaluation of Developmental Status (PEDS), (see: Parent's Evaluation of Developmental Status (PEDS) site) and the other is an autism-specific screening test, such as the (Modified Checklist for Autism in Toddlers – Revised, with Follow-Up (M-CHAT-R/F). After reviewing the information provided by the family, Dr. Black is concerned that Ramon may have a language delay related to an autism spectrum disorder. He then refers Ramon to a psychologist for a diagnostic test for autism spectrum disorders, such as the Autism Diagnostic Observation Schedule (ADOS) test. Ramon’s score on the test reveals that he does not have an autism spectrum disorder. The cognitive testing shows that Ramon does not have intellectual disability or a low IQ. He is diagnosed with an expressive language delay.
Ramon then works with Early Intervention to receive speech and language therapy, and his language skills gradually improve over the next two years. At each subsequent visit, Ramon’s doctor continues to do surveillance by asking questions about Ramon’s development and provides encouragement to the family by noticing the improvements Ramon is making.
Developmental screening is part of routine well child care and does not cost families extra. When children need additional assessment or treatment, insurance may cover those costs. For families without insurance, publicly funded services or insurance coverage may be available and the Medical Home may recommend ways that families can help the child maintain or gain skills.
Screening Settings
In addition to the Medical Home, schools often perform certain screening tests, including hearing, vision, and scoliosis (spine) screening. The types of screening tests that are provided will vary depending upon the rules set by state legislatures and school boards. Depending upon the state and the specific screening test, parents may need to provide a signed consent form for their child to have a screening test. For example, a scoliosis screening test will usually require parental consent since it involves the child removing his or her shirt to check for curvatures in the spine as the child bends over.
Well child checkups are appointments for children of all ages during which primary care clinicians will determine if children are on track for growth and development. These visits are scheduled for certain ages, with more frequent visits for infants, and yearly visits for older children and teenagers (see: 2017 Bright Futures Periodicity Schedule (AAP) (

Children that have a chronic medical condition, such as diabetes, cerebral palsy, asthma, autism, or bipolar disorder, will need to visit their Medical Home more frequently than the usual well child visits. These chronic care visits are regularly-scheduled visits in addition to acute care visits for illnesses or unexpected problems. Children will still need to have well child visits to screen for other problems and get vaccinations at the right ages.
Resources
Information & Support
For Parents and Patients
Prenatal Testing
List and description of various tests from the American Pregnancy Association.
Early Childhood Development: Resources for Parents ( 39 KB)
Listing of selected Utah and National organizations that address the issue of early childhood development.
Learn the Signs. Act Early (CDC)
Offers many tools, videos, lists, learning materials, and an app to track a child’s developmental milestones (ages 2 months
to 5 years) and act if concerned about progress; Centers for Disease Control and Prevention.
Learn the Signs. Act Early. Tools
Checklists, booklets, and other tools to learn about and track developmental milestones for infants and young children.
Developmental Screening (CDC)
Written for families, this resource provides an overview of screening, the pros and cons of screening tools, links to federal
resources; Centers for Disease Control and Prevention.
Early Developmental Guide for Parents
From the Utah Department of Health, a list of milestones for ages 1-2 months, 3-4 months, 6 months, 9 months, 12 months, 18
months, 2-3 years. Includes development, nutrition, communication/hearing/vision, and guidance for parents
Parenting (Zero to Three)
A webpage from the Zero to Three national, nonprofit organization dedicated to supporting families and communities in the
care of young children. This site has links to FAQs; parenting tips; and reproducible handouts for parents. Topics include
behavior, sleep, play, language, and more.
Parent's Guide to Understanding Subspecialists
An American Academy of Pediatrics webpage that links to information about pediatric subspecialists and transport teams. Includes
guidelines for referral to pediatric surgical specialists.
Utah Parent Center
A nonprofit organization that provides training, information, referral, and assistance to parents of children and youth with
all disabilities including physical, mental, hearing, vision, learning, behavioral, and emotional. Staff consists primarily
of parents of children and youth with disabilities.
Baby Watch Referral Form ( 156 KB)
Information referral and release form to exchange information between the Medical Home and early intervention programs in
Utah.
Rh Incompatibility
Explanation of the condition from Medline Plus.
Hearing Tests (My Baby's Hearing)
Overview of hearing testing in children; Boys Town National Research Hospital.
Parent's Evaluation of Developmental Status (PEDS) site
PEDS and PEDS:DM provide 5-minute screenings, longitudinal surveillance, and triage for developmental as well as behavioral/social-emotional/mental
health problems. Can be completed by parent self-report, interview, or administered directly to children; available for a
fee.
M-CHAT (Modified Checklist for Autism in Toddlers) ( 117 KB)
The M-CHAT is copyrighted, and its use must follow these guidelines:
(1) Reprints/reproductions of the M-CHAT must include the copyright (© 1999 Robins, Fein, & Barton). No modifications can
be made to items or instructions without permission.
(2) It must be used in its entirety.
(3) Parties interested in reproducing the M-CHAT in print (e.g., a book or journal article) or electronically (e.g., as part
of digital medical records or software packages) must contact Diana Robins to request permission (drobins@gsu.edu).
More information is available at http://www2.gsu.edu/~psydlr/Diana_L._Robins,_Ph.D..html.
Childhood Immunization Schedule (Utah)
English and Spanish versions of recommended shots for infants, toddlers, and young children.
Building Your Care Notebook (AAP)
The American Academy of Pediatrics provides a central place with links to several forms from many states. For families that
are new to making care notebooks, we suggest you pick one form and try filling it out before downloading other forms.
Collaborative Care Notebook ( 467 KB)
From Utah Family Voices, this care notebook in PDF format incorporates forms from many other states. Use selected pages or
the entire notebook.
Completo Care Notebook ( 1.3 MB)
En Espanol.
Services for Patients & Families in Utah (UT)
Service Categories | # of providers* in: | UT | NW | Other states (5) (show) | | ID | MT | NM | NV | RI |
---|---|---|---|---|---|---|---|---|---|---|
Audiology | 54 | 2 | 29 | 51 | 274 | 7 | 24 | |||
CHIP, State Children's Health Insur Prog | 27 | 1 | 23 | 2 | 9 | 3 | 1 | |||
Developmental Assessments | 45 | 139 | 11 | 260 | 3 | 29 | ||||
Early Intervention for Children with Disabilities/Delays | 55 | 2 | 153 | 24 | 162 | 28 | 14 | |||
Head Start/Early Head Start | 61 | 1 | 70 | 98 | 86 | 57 | 14 | |||
Medicaid | 41 | 2 | 67 | 5 | 178 | 45 | 7 | |||
Newborn Screening Services | 3 | 1 | 23 | 4 | 2 | 2 | 1 | |||
Pediatric Orthopedics | 19 | 2 | 4 | 13 | 12 | 6 | 12 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Page Bibliography
Committee on Children with Disabilties.
Developmental surveillance and screening of infants and young children.
Pediatrics.
2001;108(1):192-6.
PubMed abstract / Full Text
This article encourages physicians to use standardized developmental screening tools and suggests that testing children at
periodic intervals will increase accuracy and further early intervention.