2019-20 TOW #6: Formula feeding

As a companion topic to last week’s review on breastfeeding, we are taking some time to learn about formula feeding. While breastfeeding is recommended as the optimal nutrition for babies, there are families for whom this is not an option (see commentary below from a pediatrician who was not able to breastfeed her baby); parents rely on us to have expertise on formula feeding as well.

Teaching materials for this week:

Take-home points about formula feeding:

  1. How much formula to provide? after the first few weeks of life, for every 1 kg (or 2 pounds) babies drink ~1 ounce of formula, up to about 7-8 ounces (I usually say closer to 6 ounces is optimal), every 3-4 hours. This amount approximates the baby’s stomach capacity and will meet metabolic needs of an otherwise healthy infant (which is ~100kcal/kg/day in babies <10 kg). Babies should be gaining 25-30g/day through 3 months, then 15-20g/day from 3-6 months (see helpful table in case discussion). Total intake in the day should be no more than 32oz. There is some evidence that using larger bottles (>=6 oz) at 2 months may be associated with feeding too much at one time, and with more rapid weight gain/overweight at 6 months.
  2. Parents often ask about how to choose a formula-what should we say?: Although claiming unique properties, all of the major standard formulas commercially available are essentially similar and contain enough vitamins and minerals to meet babies’ needs. If fully formula-fed, vitamin D should be adequate to meet 400 IU daily. There should never be an indication to use “low-iron” formulations. There is mixed evidence on whether adding long-chain fatty acids DHA and ARA to formulas has benefit for vision and cognition; nonetheless, these are now routinely added to most formulas in the US. Check out info for parents on choosing a formula from the AAP healthychildren website on choosing a formula
  3. What are recommendations for preparing formula? This is important to know and families should follow labels carefully. (I will always remember a baby brought to us at clinic seizing and hypoxic from hyponatremia due to inproperly mixed formula.) For powdered formula, it is typically 1 scoop for every 2 ounces. Fill the water first, then add the powder. In places with safe drinking water, standard tap water can be used without boiling (heavy boiling may increase concentrations of lead, in fact). Be cautious about well water – this should be tested for lead and other heavy metals. There is some concern about mild fluorosis if formula is mixed with fluoride-containing water – in which case you can sometimes mix with bottled water. At room temperature, discard formula not used within 2 hours. Refrigerated formula should be discarded after 24 hours.
  4. When should we consider switching formulas? Most infants tolerate standard formulas and do not require switching. Parents often ask about switching formulas when babies have irritability and colic, which are unlikely to improve because of a formula change. Infants with specific GI symptoms, such as diarrhea, constipation, blood in the stool, and excessive gas are more likely to benefit from a formula switch.
  5. When should infants have special formulas? Soy-based formulas can treat some cow-milk formula intolerance, whether from lactose intolerance or cow milk protein allergy. Infants that have an IgE-mediated cow milk allergy may switch to soy-based formula, though up to half of infants allergic to cow’s milk may also not tolerate soy. In these cases, hydrolyzed formulas are required (such as Alimentum, Nutramigen, Pregestamil, and Neocate). These formulas are 3-4 times more expensive and may require prescriptions to be covered by insurance/WIC, though most are available over the counter. (See the helpful table to review these in the article above).

2019-20 TOW #5: Breastfeeding

Promoting breastfeeding in infants represents our earliest opportunities to influence nutrition and health for the lifetime. Among the many reasons to promote breastfeeding, the emerging data on how breastfeeding affects the microbiome for infants is pretty amazing. This data may help us better understand why breastfed babies get fewer infections and have other health benefits. Another benefit of breastfeeding: babies get exposed to flavors of healthy foods, and are more likely to eat them later.

Take-home points on breastfeeding challenges:

  1. What are the indicators of successful lactation to assess at initial well visits? Mother: milk is in, not too engorged, minimal nipple soreness with latching (should be improving, get better after first few sucks each feeding); starting to adjust to her newborn and has social support; Baby: feeding on both breasts 8-12 times in 24 hours, satisfied after 30-40 minutes of nursing; gaining 25-30 grams a day.
  2. What are the main problems with breastfeeding that often lead to early cessation? Primary breastfeeding challenges include poor latch, nipple pain, and problems with milk supply. While nearly all mothers try breastfeeding, almost half stop after a few weeks due to these challenges (and many others due to having to return to work without adequate support for breastfeeding). Most challenges are treatable with support from us, lactation specialists, and family/social support. Only about 5% of moms actually have physiologic problems that lead to inadequate supply.
  3. How can we help with these challenges? We need to know a few basics: observe feeds so we can help with latch in different positions, assess nipple pain (should improve with better latch and with time. but if not think of fungal and bacterial infections and vasospasm as causes), and help with milk supply. If milk supply is an issue, recommended strategies include rest, hydration, breast compression, and increased stimulation through feeding and pumping, and galactogogues including Reglan, fenugreek and oxytocin nasal spray.
  4. Why are late preterm infants at special risk for difficulty breastfeeding? Some appear large (6-7 pounds) but can be breastfeeding “imposters”; appear to be feeding well but are not transferring enough milk and not gaining weight well. They need extra attention, clear feeding plan, and benefit from early and ongoing lactation support to help them get there.
  5. How do we decide if a mom’s medication is compatible with breastfeeding? Look it up on LactMed, the NIH sponsored website to provide information about drugs and other chemicals while breastfeeding.

2019-20 TOW #1: Infant Well Child Care

It’s exciting to kick off another year of continuity clinic teaching and our TOW series.

We are starting with a review of well child care at different ages in the first 4 weeks. This is a great opportunity to highlight recommended screening and priorities for these visits, and your clinical pearls. For interns not in clinic this month, please refer back to them later!!

Materials for this week:

Key take-home points:

  1. How do we prioritize what to cover in infant well child checks? There is widespread acknowledgement that providing comprehensive WCC is difficult in a typical ~20 minute visit, and it’s impossible to cover everything. National organizations like the AAP and pediatric research have helped define key priorities. And, others, including one of our own faculty, Tumaini Coker MD MPH, have highlighted the need to do more to address social determinants of health in WCC. One critical element in providing patient-centered care is to first ask about the parents’ concerns and priorities, e.g., “What do you want to make sure we talk about today? What are your questions and concerns?”
  2. How can Bright Futures resources be used? Bright Futures is the AAP-endorsed and supported guidance for primary care practices to prioritize components to include in comprehensive well-child and adolescent care. For each recommended well child check from newborn to age 21, there are guidelines for screening and 5 key recommended areas to discuss. For infants, the major 5 areas to prioritize are family functioning, development, growth and nutrition, oral health, and safety. Many sites use Bright Futures patient education handouts, which are great to review briefly when preparing for visits.
  3. What are the most important evidence-based components of infant visits? Providing immunizations and helping families stay up to date (more on this in a future topic!) is the most evidence-based. There is also evidence for programs that help parents thrive in parenting roles. We want to identify untreated mental illness or substance abuse, and if parents understand normal infant behavior, such as crying, and how to connect with and comfort their infants. Strategies like those taught in Promoting First Relationships (PFR) are effective (more on that to come as well). Questions to help explore include: “How are you doing? How are things going for your family?” To explore the relationship, perception of infant, we can ask “Tell me about your baby. What do you like best about him/her?” or “What has been difficult? What has surprised you?” These help us identify red flags for high-risk social interactions that may warrant more support.
  4. What are the recommended screenings for infant visits? It varies by age, but after the newborn hearing and metabolic screenings, most screenings (including blood pressure, vision, hearing, and anemia screenings) are selective for at-risk infants, such as for preterm infants or those who have abnormal findings on exam or by parent report. It is recommended to do a formal development screening at 9 months. In addition, we can make the case for the benefit of routine screening for social determinants of health (poverty, education, legal issues, housing and food security-more on these to come).
  5. What ways can we build rapport with parents for infant visits? Acknowledge how hard parents are working, and normalize how difficult it can be caring for infants. Also notice their strengths as a parent. It’s helpful to note out loud the positives about their interactions with their babies, e.g., “Wow, look at how your baby gazes at you – it’s so clear how much they want to see and hear you. It’s amazing how she already knows you. When you respond with comforting like that, this helps her feel safe and secure and know she’s loved.”

2018-19 TOW #44: Circumcision

Newborn male circumcision is a topic that remains controversial in pediatrics, and overall the AAP has maintained a neutral stance on it. The most recent AAP report, issued in 2012, stated that overall, male circumcision has adequate benefits compared to risks to “justify access to the procedure for families who choose it.” In Washington State, families who choose circumcision must pay for the procedure out of pocket. At the UW Northgate Clinic, one of the available local sites, it costs about $300.

Materials for this week:

Key take-home points:

  1. What are the main benefits and risks of circumcision? Benefits include decreased risk of UTI before age 2, and decreased risk of heterosexual transmission of STIs including HIV, HPV, HSV-2, and bacterial vaginosis in female partners. It may reduce the risk of penile cancer, which is rare overall. Complication rate is about 0.2% and mostly minor, including bleeding (0.1%), infection (0.06%) and penile injury (0.04%). There are also known later complications, such as adhesions, phimosis, inclusion cysts, and poor cosmetic outcome. Contraindications include known bleeding disorders, penis malformations including chordee, hypospadias, epispadias, and buried penis.
  2. What are the 3 most common circumcision procedures? There are many types of approaches/devices, but the Gomco, Plastibell and Mogen (or Mogan) are the most commonly used (see videos above for all 3). Gomco and Mogen use scalpel dissection to cut the tissue and have a higher risk of bleeding. Plastibell technique uses a tying off of tissue with the Plastibell ring (minus handle), residual foreskin, and suture remaining on the glans and falling off in 5-7 days. All procedures should have appropriate analgesia, ideally with a dorsal penile or subcutaneous ring block, less helpful is topical lidocaine/prilocaine. Adjunctive oral sucrose can be used but should not be the sole analgesia.
  3. What key anticipatory guidance should we provide regarding circumcision care? After circumcision, the glans can appear red and raw appearance from lysing foreskin adhesions, which can be somewhat worrisome to parents. Swelling peaks 24-48 hours after the procedure and there may be fibrinous exudate as the glans heals. Parents should clean with warm water and mild soap if fecal material gets on the penis. Fortunately, infection is rare; observe for increasing redness, swelling, pain or purulent discharge. For circumcisions done with sharp dissection (Gomco or Mogen), parents should apply petroleum jelly on a gauze pad over the penis tip with each diaper change for 1-2 weeks until the skin is epithelialized. Plastibell circumcisions do not require vaseline but observe for slippage of the bell or difficulty urinating.
  4. When is referral indicated for management of circumcision problems? What about for later circumcision? Most often referral to urology after circumcision is for addressing redundant foreskin, meatal stenosis, and adhesions or skin bridges. Later medical circumcision might be considered for recurrent UTI, phimosis or paraphimosis, or high risk of UTI (high grade vesicoureteral reflux, bladder neck obstruction hydronephrosis, posterior urethral valves).
  5. What advice do we give about care for the uncircumcised penis? The only care needed is washing the external surface with soap and water and not retracting the foreskin, which can cause pain, bleeding and lead to paraphimosis, when it becomes stuck in the retracted position. Only 4% of uncircumcised infants have completely retractible foreskin initially. Most babies have physiologic phimosis (inability to retract the foreskin), which usually resolves by age 3 in about 90% of boys, and by teenage years in almost all boys.

2018-19 TOW #43: Hip dysplasia

Developmental dysplasia of the hip (DDH) is an important newborn-related topic. A 2016 report gave new updates that highlighted the “primary goal of preventing and/or detecting a dislocated hip by 6 to 12 months of age in an otherwise healthy child, understanding that no screening program has eliminated late development or presentation of a dislocated hip and that the diagnosis and treatment of milder forms of hip dysplasia remain controversial.”

Materials for this week:

Take-home points:

  1. What are the primary risk factors for DDH? Female gender (up to 75% of DDH), family history, and breech position in the 3rd trimester. As of the updated guideline, there is now also a risk factor noted for tight swaddling with legs adducted and extended. As many as one in six newborn babies have mild hip instability at birth, and approximately one per thousand has a dislocated hip.
  2. How do we screen for and prevent DDH? All children should receive routine clinical evaluation of their hips at each scheduled health supervision visit. Based on consensus (due to the lack of clinical studies), children who have equivocal findings on exam, or increased risk factors for DDH (and normal exam findings) should have imaging. Hip-safe swaddling allows the legs to move into flexed and abducted hip position (i.e., legs not confined to a straight extended position). Safe baby carrying is the “Spread Squat position” – also known as the M-Position, or Jockey Position – with the thighs spread around the mother’s torso and the hips bent so the knees are level with or slightly higher than the buttocks. 
  3. What physical exam techniques should be used? Look for asymmetry* of the thigh or gluteal folds or limb length discrepancy while supine with the hips and knees in straight leg position, and then with the hips and knees in flexed position (*be aware if hip dysplasia is bilateral, we obviously can’t compare sides). Galeazzi sign is unequal knee height when legs are flexed. Use Ortolani maneuver (abduction movement to detect a dislocated femoral head reducing into the acetabulum), which the newest guidelines say has the best predictive value. Barlow manuever may not be necessary and/or harmful if too much pressure is applied. If Barlow is used, it should be gentle pressure applied while adducting the hip after performing Ortolani. The Ortolani and Barlow maneuvers are really most reliable in the first 6 weeks up to 12 weeks, as the hip laxity decreases with time. After that, we use observation of skin folds, hip movement, and leg length. Limited hip abduction or asymmetric hip abduction after the neonatal period (4 weeks) should be referred.
  4. What imaging do we use to screen? Ultrasound at age 6 weeks to 6 months, or plain x-rays at 4-6 months are considered fairly equivalent according to the data, and are implemented based on local availability of trained sonographers. Note, there are more false positives with early ultrasound, and many children with more subtle findings may be watched and rescreened.
  5. What constitutes a positive screen? Based on consensus, children who have unstable hips on exam (a “clunk” on Ortolani) or abnormal findings on radiographic evaluation, should be referred to an orthopedist. Isolated hip clicks without the sensation of instability usually represent normal laxity and myofascial tissue movement over the bones and do not require referral.

2018-19 TOW #40: Head shape

An important aspect of evaluating infant growth is head size and shape. Positional plagiocephaly has increased with back to sleep recommendations, and treatment continues to evolve, in part thanks to research by some of our wonderful local craniofacial experts.

Materials for this week:

Take-home points for assessing abnormal head size and shape, especially plagiocephaly:

  1. Clinical definitions: Newborns have 7 skull bones separated by 6 major sutures important to skull growth: 1 metopic, 2 coronal, 1 sagittal, and 2 lambdoid. Craniosynostosis is defined as premature fusion at one or more of the cranial sutures, resulting in restriction of skull growth at that site. Unilateral flattening over the occiput is due to either positional plagiocephaly or lambdoid suture craniosynostosis (much more rare).
  2. Epidemiology: During the first two years of life, 75% of head growth occurs; only 25% occurs after age two. About 20% of infants have positional plagiocephaly in the first 4 months, which increased with 1992 “back to sleep” guidelines. Craniosynostosis affects 1 in 1800. Lambdoid synostosis affects 3 in 100,000.
  3. Physical exam: Look at the head from multiple angles, especially from the top. Positional plagiocephaly has a “parallelogram” shape with the ipsilateral ear pushed forward and ipsilateral bossing with no palpable ridge. Lambdoid synostosis is distinguished by a trapezoid shape with ipsilateral ear pulled back and contralateral bossing with a palpable ridge over the suture. Another tip to remember is metopic suture closes in the first year of life and can cause some normal ridging on forehead (abnormal closure leads to a triangular shape of the head).
  4. Work-up: Generally clinical exam is most important so follow head size and shape closely. If concerned, refer locally to craniofacial clinic to decide on imaging. In more remote areas, where referral access is more limited, imaging may need to be done first, which would typically start with skull x-ray and/or cranial ultrasound (depending on availability of technicians skilled in ultrasound).
  5. Management: Provide patient education about position, including changing direction baby is facing in the crib, keeping babies out of “containers” (carseats, swings, etc.) and promoting tummy time. Refer to PT for any concerns of decreased mobility or torticollis. Refer to craniofacial around 5-6 months if not improving. Helmet therapy costs about $2000 and may not be covered by insurance. It is usually implemented between 6-9 months. Follow developmental status closely as plagiocephaly is associated with higher rates of developmental delay at 36 months.

2018-19 TOW #32: Primary Care of Premature Infant

We love our babies in pediatrics, and we have the privilege to care for increasing numbers of babies that survive very premature birth thanks to the expertise of our amazing neonatologists and the many breakthroughs they have had in care in recent decades. Once babies graduate from the NICU, we can offer ongoing specialized care, reviewed here.

Materials for this week:

Take-home points

  1. How do we support families after graduation from the NICU? We can help families transition by assessing their social support and emotional health, sharing what to expect, and offering more frequent visits. We should explain how we use corrected age (subtract number of weeks of prematurity from their chronological age) to assess growth and development so they know what to expect.
  2. How long do we adjust growth parameters based on gestational age? Until infants reach a chronological age of 2 years, we should adjust height, weight, and head circumference for prematurity. Blood pressures should be assessed initially for all NICU grads, and followed regularly for babies with extra complications, such as BPD.
  3. To support adequate growth, how do we typically fortify feedings for premies? Babies under 2 kg or <28 weeks at birth typically receive a transitional formula of 22-24kcal/oz at discharge from the NICU. As infants demonstrate consistently good growth, and self-regulation of intake, they can be switched to term formula – often between 4-9 months, though may be longer for some. Premature formula provides extra calcium and phosphorus to prevent osteopenia of prematurity. Some recommend extra vit D (up to 1000 IU) for premies (compared to 400 IU for term infants). To prevent anemia, a MVI with iron should be provided for breastfed infants until 1 year to ensure the recommended 2mg/kg/day of elemental iron. Preterm babies typically start solids at 4-6 months adjusted age when showing appropriate cues.
  4. How should the vaccine schedule be adjusted? We give vaccines on the chronological age schedule. The only routine vaccine not given to premies in the hospital is the rotavirus vaccine as it is a live virus vaccine that can be shed. All family members should have Tdap and flu vaccines to “cocoon” infants and protect them from illnesses.
  5. What is the recommended neurodevelopmental follow-up? All high-risk neonates should be referred to early intervention or the state birth to three program. Premature infants should be monitored for development using standardized screening such as the ASQ. All infants who were in the NICU for 5 or more days should have formal audiologic screening done by 24-30 months, even if they passed the initial screen. Given the higher incidence of vision problems including ROP, amblyopia, strabismus and cataracts, vision should be evaluated by an ophthalmologist, typically around 8-10 months.

2018-19 TOW #24: Atopic dermatitis

With all of this cold, dry sunny weather we’re having, it’s the season for dry skin and flares of atopic dermatitis. (Indeed, one of my daughters is constantly complaining of dry lips right now, and we are trying to forestall lip lickers’ dermatitis, to which she is prone!) This is a great time to review some tools of the trade and recent data.

Key points to review:

  1. Epidemiology: Atopic dermatitis (AD) is one of the most common skin disorders in young children, with a prevalence of 10% to 20% in the first decade of life. It is a chronic illness with multiple etiologies and requires multifaceted treatments. Almost half of children with AD develop it before 1 year of age, and the majority by age 5.
  2. Pathophysiology: Defects in the epidermal barrier function and cutaneous inflammation are 2 hallmarks of AD, which is why we target therapy with emollient barrier agents and anti-inflammatory treatments. Both skin with lesions and without have shown defects in transepidermal water loss, even measured at 2 days of age. Mutations in filaggrin, an important protein in skin barrier function, are predictive of multiple forms of atopy, including atopic dermatitis, food allergies, and asthma.
  3. Topical corticosteroids are the mainstay of therapy for inflammatory skin diseases like AD. They reduce inflammation in the skin by causing vasoconstriction and preventing inflammatory cells from entering the affected area, so they also have an anti-pruritic effect. Potency is actually determined by how much vasoconstriction they cause. For children with rapid flares, a recommendation is short-term bursts of mid- to high-potency topical steroids, typically applied twice daily for 7 to 10 days, then tapering to lower potency daily, then to intermittent application, 2-3 times per week.
  4. Regular use of emollients to prevent drying of the skin is also important in managing AD. Patients should use a dye-free, fragrance-free moisturizer and apply it at least twice per day and after bathing. In practice (and personal experience with my kids), my go-to has been petroleum jelly / white petrolatum (Vaseline). It’s effective, does not sting like other creams/lotions can, and is affordable.
  5. Prevention of AD – yes it’s possible! Data from 2 RCTs, one in the US/UK and one in Japan, has shown that applying moisturizers daily for infants from birth to 6 months can forestall development of eczema among infants who have at least one family member with AD. In a cost analysis, the most cost effective emollient was petrolatum (i.e., Vaseline/petroleum jelly). In the lay press, NYT highlighted these AD prevention studies.
  6. Side effects of topical steroids and calcineurin inhibitor options: Steroid side effects are most problematic when applied to skin without inflammation. Steroids should be applied to affected skin until 3 days after resolution. For those with more severe AD, treatment may continue weekly (or more often) to prevent flares symptoms. Use lower potency especially in the face and groin area where the skin is thinner / more susceptible to damage. Topical calcineurin inhibitors provide another treatment option. They are considered second line therapy for short term and noncontinuous chronic treatment, with improving evidence for safety since the 2006 FDA black box warning.

2018-19 TOW #22: Newborn concerns

For many of us, one joy of general pediatrics is the chance to care for babies. As we welcome them into the world, they seem to bring us hopefulness and renewed faith in the human potential. As Henry David Thoreau said, “Every child begins the world again.”

Note: this is a great topic for you senior residents to lead the discussion!

Materials for this week:

Take-home points:

  1. Attachment: babies thrive when their caregivers are thriving. Given what we now know about neural wiring in the first 1000 days of life, it is critical to support parents’ ability to care for and connect with their infants. Mothers should be screened for post-partum depression and referred for treatment, as needed. Observe and comment on how parents are comforting babies in visits, such as talking and holding (and possibly the 5 S’s-suck, swaddle, swing, shush, side-lying). Help parents beware of how phone use and screen time may interfere with interaction with babies. We have to debunk the misguided idea of “spoiling them” by holding them too much-in fact, we know that infant brains shows positive effects with high nurturing. Promoting First Relationships (PFR) offers a great framework for supporting parents with these concepts in clinic visits. All of the great PFR handouts are available on the TOW mainpage sidebar with your UW NetID here.
  2. Helping parents be experts: provide parents encouragement, point out what they are doing well to connect and care for babies, and how they are the most important people in their infant’s life. Give them tools (such as PFR handouts) and resources like www.text4baby.com where they can sign up for texts based on baby’s birth date that give tailored resources, reminders, and tips.
  3. Normal newborn behaviors and findings: parents need to know about common things that can seem worrisome (sneezing, hiccupping, spitting up, primitive reflexes, rashes, crying, etc). Review some common skin findings here.
  4. Nutrition: helping babies grow/gain weight is a central concern in the first few months of life, and we need to provide guidance and reassurance on appropriate weight gain and support for breastfeeding. Whether breastfed or not, all babies should be cuddled and held with nurturing interactions during feeding. We can teach about reading babies cues of hunger and fullness from the beginning. Breastfed babies (fully or partially breastfed) should be on a vitamin D supplement of 400 IU per day to prevent rickets.
  5. Sleep: providing a safe sleep environment is key to babies thriving-babies should be on their backs and in their own sleeping unit without extra blankets or stuffed animals to avoid suffocation and SIDS. Co-sleeping/ Bed-sharing is the highest cause of death under 3 months, and is especially dangerous if parents smoke or drink alcohol. Ask open-ended questions about where baby is sleeping and in what position to facilitate honest conversations. Review evidence and encourage room-sharing rather than bed sharing. The AAP has sleep guidelines that recommend co-rooming. Also review positional plagiocephaly and how to avoid it (tummy time, rotate positions in crib and get babies out of containers (e.g. swings, carseats, babyseats) when not sleeping)!

2018-19 TOW #13: Newborn screening

Newborn screening has helped revolutionize our ability to detect metabolic and hematologic diseases in infants. While the vast majority of screens are normal, when we catch those rare diseases before any symptoms start, we are reminded just how remarkable this process is (as per my experience in clinic last week). Two of our program graduates contributed to the materials for this topic, Drs Dave Higgins and Beth Tarini MD MPH, a national expert.

Materials to review:

Key points in newborn screening:

  1. When did it start and how is it done? The first sensitive, inexpensive, and easily performed newborn screening test was developed by Dr. Robert Guthrie in 1962. Prior to Guthrie’s assay for hyperphenyalaninemia, infants with suspected phenylketonuria (PKU) were diagnosed at 6-8 weeks of age. Within 10 years the testing was used nationwide. Now many diseases can be detected with tandem mass spectrometry technique (we screen for about 30 on our state screening). Key criteria for screening is which diseases have accurate, safe, effective testing and follow-up treatment available.
  2. What are the most common diseases detected? Congenital hypothyroidism, hemoglobinopathies, congenital adrenal hyperplasia, CF, and galactosemia. In WA each year 174,000 specimens from about 86,000 newborns are tested. Approximately 170 – 200 infants have one of the conditions. A one-time fee ($69.00 in 2014) for each baby screened funds this testing.
  3. What’s the reliability of screening tests? Sensitivity is approaching 99% for most disorders. However, false-positives remain a big problem, particularly for endocrinopathies: one study found as many as 50 false-positives for 1 true-positive. Studies have shown that up to 20% of families maintain some concern about the health of their child after false-positive screening results, so reviewing this information with families is key.
  4. Why a 2nd screening? A 2nd screening between 7-14 days of life is recommended (though not required in our state), primarily to detect congenital hypothyroidism. About 15% of hypothyroidism cases are missed on the first screen.
  5. What to do when a test is positive? Key information we should review with parents includes basic description of the disease process in question, that there are false positives, especially for some diseases, and next steps in evaluation and treatment (e.g., repeat testing on same sample, speaking to a specialist early in the evaluation process). Refer to the WA state newborn screening website for more guidance.