Skip to main content
Book cover

Pediatric Diagnostic Labs for Primary Care: An Evidence-based Approach pp 67–100Cite as

Care of the Newborn

  • 105 Accesses

Abstract

The newborn’s diagnostic laboratory tests are important in predicting clinical outcomes. The clinician evaluates diagnostic laboratory tests recognizing that early recognition, treatment, and management can prevent morbidity and mortality. The first part of the chapter will discuss. Newborn screening (NBS) will complete the chapter as it is a public health program designed to detect asymptomatic, treatable conditions early in a child’s life. The section on NBS provides an overview of the screening process, lab methodology, medical conditions recommended for NBS, considerations affecting results, and ethical issues. The role of genetic testing to confirm a diagnosis rapidly will be discussed in the chapter on genetics. The middle section will discuss common newborn tests and their differential diagnosis. The final section will discuss congenital infections and their evaluations. Algorithms for evaluating a newborn with a possible congenital infection are included. Chagas disease is reviewed as it is an underdiagnosed infection in the neonate.

Keywords

  • Hemolytic disease of the newborn
  • Hyperbilirubinemia
  • Cytomegalovirus
  • Herpes simplex infection
  • Zika virus infection
  • Congenital hepatitis B and C infection
  • Newborn screening
  • Recommended Uniform Screening Panel
  • Public health program
  • Dried blood spot

This is a preview of subscription content, access via your institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • DOI: 10.1007/978-3-030-90642-9_3
  • Chapter length: 34 pages
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
eBook
USD   79.99
Price excludes VAT (USA)
  • ISBN: 978-3-030-90642-9
  • Instant PDF download
  • Readable on all devices
  • Own it forever
  • Exclusive offer for individuals only
  • Tax calculation will be finalised during checkout
Learn about institutional subscriptions
Fig. 3.1
Fig. 3.2

References

  • AASLD-IDSA. HCV in children. Recommendations for testing, managing, and treating hepatitis C. 2018 [https://www.hcvguidelines.org/unique-populations/children

  • ACMG ACT Sheets and Algorithms. [Internet]Newborn screening ACT sheets and algorithms. Bethesda (MD): American College of Medical Genetics and Genomics; 2001.

    Google Scholar 

  • Adamkin DH. Neonatal hypoglycemia. Curr Opin Pediatr. 2016;28(2):150–5.

    PubMed  CrossRef  Google Scholar 

  • Adamkin DH, et al. Clinical report—postnatal glucose homeostasis in late-preterm and term infants. Pediatrics. 2011;127:575–9.

    PubMed  CrossRef  Google Scholar 

  • Adebanjo T, Godfred-Cato S, Viens L, et al. Update: interim guidance for the diagnosis, evaluation, and management of infants with possible congenital Zika virus infection—United States, October 2017. MMWR Morb Mortal Wkly Rep. 2017;66:1089–99.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Agrawal A. CRP after 2004. Mol Immunol. 2005;42(8):927–30.

    CAS  PubMed  CrossRef  Google Scholar 

  • Agrawal A, Hussain KS, Kumar A. Minor blood group incompatibility due to blood groups other than Rh(d) leading to hemolytic disease of the fetus and newborn: a need for routine antibody screening during pregnancy. Intractable Rare Dis Res. 2020;9(1):43–7.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Al-Lawama M, Badran E. Clinical value of repeat blood cultures in neonatal patients receiving antibiotic treatment. J Int Med Res. 2015;43(1):118–24.

    PubMed  CrossRef  Google Scholar 

  • Al-Zaidy SA, Mendell JR. From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1. Pediatr Neurol. 2019;100:3–11.

    Google Scholar 

  • American Academy of Pediatrics. Summaries of infectious diseases. In: Kimberlin DW, Brady MT, Jackson MA, Long SS, editors. Red book: 2018 report of the committee on infectious diseases. American Academy of Pediatrics; 2018. p. 235–901.

    Google Scholar 

  • American Academy of Pediatrics. Summaries of infectious diseases. In: Kimberlin DW, Brady MT, Jackson MA, Long SS, editors. Red book: 2021 Report of the Committee on Infectious Diseases. American Academy of Pediatrics; 2021:Section 3.

    Google Scholar 

  • American Academy of Pediatrics Committee on Fetus and Newborn and ACOG Committee on Obstetric Practice. In: Kilpatrick SJ, Papile L, Macones GA, Watterberg K, editors. Guidelines for Perinatal Care. 8th ed. Elk Grove Village, Illinois: American Academy of Pediatrics; 2017.

    Google Scholar 

  • American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics. 2006;117(5 Pt 2):S296–307.

    Google Scholar 

  • American College of Obstetricians and Gynecologists. Prevention of Rh D Alloimmunization. ACOG Practice Bulletin, Number 181. Obstet Gynecol. 2017;130:e57–70.

    CrossRef  Google Scholar 

  • Anderson NB, Calkins KL. Neonatal indirect hyperbilirubinemia. NeoReviews. 2020;21(11):e749–60.

    PubMed  CrossRef  Google Scholar 

  • Banerjee R, Teng CB, Cunningham SA, Ihde SM, Steckelberg JM, Moriarty JP, et al. Randomized trial of rapid multiplex polymerase chain reaction-based blood culture identification and susceptibility testing. Clin Infect Dis. 2015;61(7):1071–80.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Bern C. Chagas’ disease. N Engl J Med. 2015;373:456–66.

    CAS  PubMed  CrossRef  Google Scholar 

  • Bern C, Montgomery SP. An estimate of the burden of Chagas disease in the United States. Clin Infect Dis. 2009;49:e52–4.

    PubMed  CrossRef  Google Scholar 

  • Bhandari V. Effective biomarkers for diagnosis of neonatal sepsis. J Pediatr Infect Dis Soc. 2014;3(3):234–45.

    CrossRef  Google Scholar 

  • Bhutani VK, Gourley GR, Adler S, Kreamer B, Dalin C, Johnson LH. Noninvasive measurement of total serum bilirubin in a multiracial predischarge newborn population to assess the risk of severe hyperbilirubinemia. Pediatrics. 2000;106(2):E17.

    CAS  PubMed  CrossRef  Google Scholar 

  • Blaschke AJ, Heyrend C, Byington CL, Fisher MA, Barker E, Garrone NF, et al. Rapid identification of pathogens from positive blood cultures by multiplex polymerase chain reaction using the FilmArray system. Diagn Microbiol Infect Dis. 2012;74(4):349–55.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Boppana SB, Ross SA, Novak Z, Shimamura M, Tolan RW Jr, Palmer AL, et al. Dried blood spot real-time polymerase chain reaction assays to screen newborns for congenital cytomegalovirus infection. JAMA. 2010;303(14):1375–82.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Boppana SB, Ross SA, Shimamura M, et al. Saliva polymerase-chain-reaction assay for cytomegalovirus screening in newborns. N Engl J Med. 2011;364(22):2111–8.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Britt W. Cytomegalovirus. In: Wilson CB, Nizet V, Maldonado YA, Remington JS, Klein JO, editors. Remington and Klein’s infectious diseases of the fetus and newborn infant. 8th ed. Philadelphia, PA: Elsevier Saunders; 2016. p. 724–65.

    Google Scholar 

  • Brown JVE, Meader N, Wright K, Cleminson J, McGuire W. Assessment of C-reactive protein diagnostic test accuracy for late-onset infection in newborn infants: a systematic review and meta-analysis. JAMA Pediatr. 2020;174(3):260–8.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Caggana M, Jones EA, Shahied SI, Tanksley S, Hermerath CA, Lubin IM. Newborn screening: from Guthrie to whole-genome sequencing. Public Health Rep. 2013;128(Suppl 2):14–9.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Ceci O, Margiotta M, Marello F, Francavilla R, Loizzi P, Francavilla A, et al. Vertical transmission of hepatitis C virus in a cohort of 2,447 HIV-seronegative pregnant women: a 24-month prospective study. J Pediatr Gastroenterol Nutr. 2001;33(5):570–5.

    CAS  PubMed  CrossRef  Google Scholar 

  • Centers for Disease Control. Congenital chagas disease. Retrieved May 6, 2021, 2021a. https://www.cdc.gov/parasites/chagas/health_professionals/congenital_chagas.html

  • Centers for Disease Control. (2021b). Congenital syphilis. Retrieved on April 15, 2021, at https://www.cdc.gov/std/tg2015/congenital.htm

  • Chadwick EG, Ezeanolue EE, Committee on Pediatric AIDS. Evaluation and management of the infant exposed to HIV in the United States. Pediatrics. 2020;146(5):e2020029058.

    PubMed  CrossRef  Google Scholar 

  • Chappell CA, Hillier SL, Crowe D, Meyn LA, Bogen DL, Krans EE. Hepatitis C virus screening among children exposed during pregnancy. Pediatrics. 2018;141:6.

    CrossRef  Google Scholar 

  • Chicaiza H, Hellstrand K, Lerer T, Smith S, Sylvester F. Potassium hydroxide: an alternative reagent to perform the modified apt test. J Pediatr. 2014;165(3):628–30.

    CAS  PubMed  CrossRef  Google Scholar 

  • Chiesa C, Natale F, Pascone R, Osborn JF, Pacifico L, Bonci E, De Curtis M. C reactive protein and procalcitonin: reference intervals for preterm and term newborns during the early neonatal period. Clin Chim Acta. 2011;412(11–12):1053–9.

    CAS  PubMed  CrossRef  Google Scholar 

  • Chiesa C, Panero A, Osborn JF, Simonetti AF, Pacifico L. Diagnosis of neonatal sepsis: a clinical and laboratory challenge. Clin Chem. 2004;50(2):279–87.

    CAS  PubMed  CrossRef  Google Scholar 

  • Christensen RD, Henry E, Jopling J, Wiedmeier SE. The CBC: reference ranges for neonates. Semin Perinatol. 2009;33(1):3–11.

    PubMed  CrossRef  Google Scholar 

  • Cooper JM, Sanchez PJ. Congenital syphilis. Semin Perinatol. 2018;42:176–84.

    PubMed  CrossRef  Google Scholar 

  • CureSMA, Newborn screening for SMA. Retrieved April 17, 2021., from https://www.curesma.org/newborn-screening-for-sma/

  • de Vries JJ, van der Eijk AA, Wolthers KC, et al. Real-time PCR versus viral culture on urine as a gold standard in the diagnosis of congenital cytomegalovirus infection. J Clin Virol. 2012;53(2):167–70.

    PubMed  CrossRef  CAS  Google Scholar 

  • deVries JJ, van Zwet EQ, Dekker FW, Kroes AC, Verkerk PH, Vossen AC. The apparent paradox of maternal seropositivity as a risk factor for congenital cytomegalovirus infection; a population-based prediction model. Rev Med Virol. 2013;23:241–8.

    CrossRef  Google Scholar 

  • Dollard SC, Grosse SD, Ross DS. New estimates of the prevalence of neurological and sensory sequelae and mortality associated with congenital cytomegalovirus infection. Rev Med Virol. 2007;17(5):355–63.

    PubMed  CrossRef  Google Scholar 

  • Du L, Ma X, Shen X, Bao Y, Chen L, Bhutani VK. Neonatal hyperbilirubinemia management: clinical assessment of bilirubin production. Semin Perinatol. 2021;45(1):15135.

    CrossRef  Google Scholar 

  • Eberl W. Diagnostic challenges in newborns and infants with coagulation disorders. Hamostaseologie. 2020;40(1):84–7.

    PubMed  CrossRef  Google Scholar 

  • Edwards MS, Abayie FA, Montgomery SP. Survey of pediatric infectious disease society members about congenital Chagas disease. Pediatr Infect Dis J. 2018;37(1):e24–7.

    PubMed  CrossRef  Google Scholar 

  • Edwards MS, Stimpert KK, Bialek SR, Montgomery SP. Evaluation and management of congenital Chagas disease in the United States. J Pediatr Infect Soc. 2019;8(5):4961–469.

    Google Scholar 

  • Epstein RL, Sabharwal V, Wachman EM, Saia KA, Vellozzi C, Hariri S, et al. Perinatal transmission of hepatitis C virus: defining the cascade of care. J Pediatr. 2018;203:34–40. e1

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Fabie NAV, Pappas KB, Feldman GL. The current state of newborn screening in the United States. Pediatr Clin N Am. 2019;66(2):369–86.

    CrossRef  Google Scholar 

  • Fasano RM. Hemolytic disease of the fetus and newborn in the molecular era. Semin Fetal Neonatal Med. 2016;21(1):28–34.

    PubMed  CrossRef  Google Scholar 

  • Fonseca R, Kyralessa R, Malloy M, Richardson J, Jain SK. Covered skin transcutaneous bilirubin estimation is comparable with serum bilirubin during and after phototherapy. J Perinatol. 2012;32(2):129–31.

    CAS  PubMed  CrossRef  Google Scholar 

  • Fowler KB, Boppana SB. Congenital cytomegalovirus infection. Semin Perinatol. 2018;42:149–54.

    PubMed  CrossRef  Google Scholar 

  • Galetto-Lacour A, Zamora SA, Gervaix A. Bedside procalcitonin and C-reactive protein tests in children with fever without localizing signs of infection seen in a referral center. Pediatrics. 2003;112(5):1054–60.

    PubMed  CrossRef  Google Scholar 

  • Geaghan SM. Diagnostic laboratory technologies for the fetus and neonate with isoimmunization. Semin Perinatol. 2011;35(3):148–54.

    PubMed  CrossRef  Google Scholar 

  • Goldenberg A, Green NS, Kemper AR, Botkin JR, Ojodu J, Prosser LA, et al. Evaluating harms in the assessment of net benefit: a framework for newborn screening condition review. Matern Child Health J. 2016;20(3):693–700.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Gomes C, Almeida A, Rosa A, Araujo PF, Teixeira A. American typanosomiasis and Chaga disease: sexual transmission. Int J Infect Dis. 2019;81:81–4.

    PubMed  CrossRef  Google Scholar 

  • Gowda C, Smith S, Crim L, Moyer K, Sanchez PJ, Honegger JR. Nucleic acid testing for diagnosis of perinatally-acquired hepatitis C virus infection in early infancy. Clin Infect Dis. 2020:ciaa949.

    Google Scholar 

  • Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117(6):1915–21.

    PubMed  CrossRef  Google Scholar 

  • Hameed NN, Hussein MA. BIND score: a system to triage infants readmitted for extreme hyperbilirubinemia. Semin Perinatol. 2021;45(1):151354.

    PubMed  CrossRef  Google Scholar 

  • Hays T, Wapner RJ. Genetic testing for unexplained perinatal disorders. Curr Opin Pediatr. 2021;33:195–202.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Hodinka RL. Human Cytomegalovirus. In: Jorgenson JH, Pfaller MA, Carroll KC, Funke G, Landry ML, Richter SS, et al., editors. Manual of clinical microbiology. 11th ed. Washington, DC: ASM Press; 2015. p. 1718–38.

    CrossRef  Google Scholar 

  • Hooven TA, Polin RA. Neonatal bacterial infections. In: Martin GL, Rosenfield W, editors. Common problems in the newborn nursery; an evidence and case-based guide. Switzerland: Springer; 2019.

    Google Scholar 

  • Huber S, Hetzer B, Crazzolara R, Orth-Höller D. The correct blood volume for paediatric blood cultures: a conundrum? Clin Microbiol Infect. 2020;26(2):168–73.

    CAS  PubMed  CrossRef  Google Scholar 

  • Ip S, Chung M, Kulig J, O’Brien R, Sege R, Glicken S, et al. American Academy of Pediatrics Subcommittee on hyperbilirubinemia. An evidence-based review of important issues concerning neonatal hyperbilirubinemia. Pediatrics. 2004;114(1):e130–53.

    PubMed  CrossRef  Google Scholar 

  • Jaffray J, Young G, Ko RH. The bleeding newborn: a review of presentation, diagnosis, and management. Semin Fetal Neonatal Med. 2016;21(1):44–9.

    PubMed  CrossRef  Google Scholar 

  • Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L, et al. Sickle cell disease. Nat Rev Dis Primers. 2018;4:18010.

    PubMed  CrossRef  Google Scholar 

  • Kenneson A, Cannon MJ. Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. Rev Med Virol. 2007;17(4):253–76.

    PubMed  CrossRef  Google Scholar 

  • Keren R, Tremont K, Luan X, Cnaan A. Visual assessment of jaundice in term and late preterm infants. Arch Dis Child Fetal Neonatal Ed. 2009;94:F317–22.

    CAS  PubMed  CrossRef  Google Scholar 

  • Ketzinel-Gilad M, Colodner S, Hadary R, Granot E, Shouval D, Galun E. Transient transmission of hepatitis C virus from mothers to newborns. Eur J Clin Microbiol Infect Dis. 2000;19(4):267–74.

    CAS  PubMed  CrossRef  Google Scholar 

  • Kim F, Polin RA, Hooven TA. Neonatal sepsis. BMJ. 2020;371:m3672.

    PubMed  CrossRef  Google Scholar 

  • Koyano S, Inoue N, Nagamori T, Moriuchi H, Azuma H. Newborn screening of congenital cytomegalovirus infection using saliva can be influenced by breastfeeding. Arch Dis Child Fetal Neonatal Ed. 2013;98(2):F182.

    PubMed  CrossRef  Google Scholar 

  • Kramer LI. Advancement of dermal icterus in the jaundiced newborn. Am J Dis Child. 1969;118:454–8.

    CAS  PubMed  Google Scholar 

  • Kuncio DE, Newbern EC, Johnson CC, Viner KM. Failure to test and identify perinatally infected children born to hepatitis C virus-infected women. Clin Infect Dis. 2016;62(8):980–5.

    PubMed  CrossRef  Google Scholar 

  • Larsen SA, Steiner BM, Rudolph AH. Laboratory diagnosis and interpretation of tests for syphilis. Clin Microbiol Rev. 1995;8(1):1–21.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Leber AL, Everhart K, Balada-Llasat JM, Cullison J, Daly J, Holt S, et al. Multicenter evaluation of BioFire FilmArray meningitis/encephalitis panel for detection of bacteria, viruses, and yeast in cerebrospinal fluid specimens. J Clin Microbiol. 2016;54(9):2251–61.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Lee AC, Folger LV, Rahman M, Ahmed S, Bably NN, Schaeffer L, et al. A novel Icterometer for hyperbilirubinemia screening in low-resource settings. Pediatrics. 2019;143(5):e20182039.

    PubMed  CrossRef  Google Scholar 

  • Luck SE, Wieringa JW, Blazquez-Gamero D, Henneke P, Schuster K, Butler K, et al. Congenital cytomegalovirus: a European expert consensus statement on diagnosis and management. Pediatr Infect Dis J. 2017;36(12):1205–13.

    PubMed  CrossRef  Google Scholar 

  • Mak CM, Hencher- Lee HC, Chan AYW, Lam CW. Inborn errors of metabolism and expanded newborn screening: review and update. Crit Rev Clin Lab Sci. 2019;50(6):142–62.

    CrossRef  CAS  Google Scholar 

  • Mathers NJ, Pohlandt F. Diagnostic audit of C-reactive protein in neonatal infection. Eur J Pediatr. 1987;146(2):147–51.

    CAS  PubMed  CrossRef  Google Scholar 

  • McCarthy PL, Sharpe MR, Spiesel SZ, Dolan TF, Forsyth BW, DeWitt TG, Fink HD, Baron MA, Cicchetti DV. Observation scales to identify serious illness in febrile children. Pediatrics. 1982;70(5):802–9.

    CAS  PubMed  CrossRef  Google Scholar 

  • Miller JM, Binnicker MJ, Campbell S, Carroll KC, Chapin KC, Gilligan PH et al. A Guide to Utilization of the Microbiology Laboratory for Diagnosis of Infectious Diseases: 2018 Update by the Infectious Diseases Society of America and the American Society for Microbiologya. Clin Infect Dis. 2018;67(6):e1–e94.

    Google Scholar 

  • Mlakar J, Korva M, Tul N, Popović M, Poljšak-Prijatelj M, Mraz J, et al. Zika Virus Associated with Microcephaly. N Engl J Med. 2016;374(10):951–8.

    Google Scholar 

  • Montoya JG. Laboratory diagnosis of toxoplasma gondii infection and toxoplasmosis. J Infect Dis. 2002;185(Supplement_1):S73–82.

    PubMed  CrossRef  Google Scholar 

  • Moyer VA, Ahn C, Sneed S. Accuracy of clinical judgment in neonatal jaundice. Arch Pediatr Adolesc Med. 2000;154:391–4.

    CAS  PubMed  CrossRef  Google Scholar 

  • Muchowski KE. Evaluation and treatment of neonatal hyperbilirubinemia. Am Fam Physician. 2014;89(11):873–8.

    PubMed  Google Scholar 

  • Nagar G, Vandermeer B, Campbell S, Kumar M. Reliability of transcutaneous bilirubin devices in preterm infants: a systematic review. Pediatrics. 2013;132(5):871–81.

    PubMed  CrossRef  Google Scholar 

  • Nagar G, Vandermeer B, Campbell S, Kumar M. Effect of phototherapy on the reliability of transcutaneous bilirubin devices in term and near-term infants: a systematic review and meta-analysis. Neonatology. 2016;109(3):203–12.

    CAS  PubMed  CrossRef  Google Scholar 

  • Oduyebo T, Polen KD, Walke HT, et al. Update: interim guidance for health care providers caring for pregnant women with possible Zika virus exposure—United States (including U.S. territories), July 2017. MMWR. 2017;66(29):781–93.

    PubMed  PubMed Central  Google Scholar 

  • Okwundu CI, Saini SS. Noninvasive methods for bilirubin measurements in newborns: a report. Semin Perinatol. 2021;45(1):151355.

    PubMed  CrossRef  Google Scholar 

  • Pal S, Curley A, Stanworth SJ. Interpretation of clotting tests in the neonate. Arch Dis Child Fetal Neonatal Ed. 2015;100(3):F270–4.

    PubMed  CrossRef  Google Scholar 

  • Pammi M, Flores A, Versalovic J, Leeflang MMG. Molecular assays for the diagnosis of sepsis in neonates. Cochrane Database Syst Rev. 2017;2:CD011926. https://doi.org/10.1002/14651858.

    CAS  CrossRef  PubMed  Google Scholar 

  • Panel on Antiretroviral Therapy and Medical Management of Children Living with HIV. Guidelines for the Use of Antiretroviral Agents in Pediatric HIV Infection 2020 December 2020 http://aidsinfo.nih.gov/contentfiles/lvguidelines/pediatricguidelines.pdf.

  • Pantell RH, Roberts KB, Adams WG, Dreyer BP, Kuppermann N, O’Leary ST, Okechukwu K, Woods CR Jr; SUBCOMMITTEE ON FEBRILE INFANTS. Evaluation and Management of Well-Appearing Febrile Infants 8 to 60 Days Old. Pediatrics. 2021;148(2):e2021052228.

    Google Scholar 

  • Peeling RW, Ye H. Diagnostic tools for preventing and managing maternal and congenital syphilis: an overview. Bull World Health Organ. 2004;82(6):439–46.

    Google Scholar 

  • Peyron F, Wallon M, Kieffer F, Garweg J. Toxoplasmosis. In: Wilson CB, Nizet V, Maldonado YA, Remington JS, Klein JO, editors. Remington and Klein’s infectious diseases of the fetus and newborn infant. 8th ed. Philadelphia, PA: Elsevier Saunders; 2016. p. 949–1024.

    Google Scholar 

  • Pinninti S, Kimberlin DW. Herpes simplex infection in the neonate. Semin Perinatol. 2018;42:168–75.

    PubMed  CrossRef  Google Scholar 

  • Polin RA. Committee on Fetus and Newborn. Management of neonates with suspected or proven early-onset bacterial sepsis. Pediatrics. 2012;129(5):1006–15. https://doi.org/10.1542/peds.2012-0541. Epub 2012 Apr 30. PMID: 22547779.

  • Polywka S, Pembrey L, Tovo PA, Newell ML. Accuracy of HCV-RNA PCR tests for diagnosis or exclusion of vertically acquired HCV infection. J Med Virol. 2006;78(2):305–10.

    CAS  PubMed  CrossRef  Google Scholar 

  • Prefumo F, Fichera A, Fratelli N, Sartori E. Fetal anemia: diagnosis and management. Best Pract Res Clin Obstet Gynaecol. 2019;58:2–14.

    PubMed  CrossRef  Google Scholar 

  • Puopolo KM, Lynfield R, Cummings JJ; American Academy of Pediatrics, Committee on Fetus and Newborn, Committee on Infectious Diseases. Management of Infants at Risk for Group B Streptococcal Disease. Pediatrics. 2019;144(2):e20191881.

    Google Scholar 

  • Putto A, Ruuskanen O, Meurman O, Ekblad H, Korvenranta H, Mertsola J, et al. C reactive protein in the evaluation of febrile illness. Arch Dis Child. 1986;61(1):24–9.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Rawlinson WD, Boppana SB, Fowler KB, Kimberlin DW, Lazzarotto T, Alain S, et al. Congenital cytomegalovirus infection in pregnancy and the neonate: consensus recommendations for prevention, diagnosis, and therapy. Lancet Infect Dis. 2017;17(6):e177–e88.

    PubMed  CrossRef  Google Scholar 

  • Recommended Uniform Screening Panel. [Internet]Official website of the U.S. Health Resour Serv Administration. 2020; [cited 2020Nov24]. https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html

  • Revell P, Doern C. Pediatric blood cultures. In: Dunne Jr WM, Burnham C, editors. The dark art of blood cultures. Washington, DC: ASM Press; 2017. p. 151–62.

    CrossRef  Google Scholar 

  • Rivers A, Slayton WB. Congenital cytopenias and bone marrow failure syndrome. Semin Perinatol. 2009;33:20–8.

    PubMed  CrossRef  Google Scholar 

  • Salimnia H, Fairfax MR, Lephart PR, Schreckenberger P, DesJarlais SM, Johnson JK, et al. Evaluation of the FilmArray blood culture identification panel: results of a multicenter controlled trial. J Clin Microbiol. 2016;54(3):687–98.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Schelonka RL, Chai MK, Yoder BA, Hensley D, Brockett RM, Ascher DP. Volume of blood required to detect common neonatal pathogens. J Pediatr. 1996;129(2):275–8.

    CAS  PubMed  CrossRef  Google Scholar 

  • Sharp TM, Fischer M, Muñoz-Jordán JL, Paz-Bailey G, Staples JE, Gregory CJ, et al. Dengue and Zika virus diagnostic testing for patients with a clinically compatible illness and risk for infection with both viruses. MMWR. 2019;68(1):1–10.

    PubMed  PubMed Central  Google Scholar 

  • Shebl FM, El-Kamary SS, Saleh DA, Abdel-Hamid M, Mikhail N, et al. Prospective cohort study of mother-to-infant infection and clearance of hepatitis C in rural Egyptian villages. J Med Virol. 2009;81(6):1024–31.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Soreng K, Levy R, Fakile Y. Serologic testing for syphilis: benefits and challenges of a reverse algorithm. Clin Microbiol Newsl. 2014;36(24):195–202.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Stol K, Nijman RG, van Herk W, van Rossum AMC. Biomarkers for infection in children: current clinical practice and future perspectives. Pediatr Infect Dis J. 2019;38:6S.

    CrossRef  Google Scholar 

  • Tas E, Garibaldi L, Muzumdar R. Glucose homeostasis in newborns: an endocrinology perspective. NeoReviews. 2020;21(1):e14–29.

    PubMed  CrossRef  Google Scholar 

  • Taylor MD, Allada V, Moritz ML, Nowalk AJ, Sindhi R, Aneja RK, Torok K, Morowitz MJ, Michaels M, Carcillo JA. Use of C-reactive protein and ferritin biomarkers in daily pediatric practice. Pediatr Rev. 2020;41(4):172–83.

    PubMed  CrossRef  Google Scholar 

  • The President’s Council on Bioethics. The changing moral focus of newborn screening: An ethical analysis by the President’s Council on Bioethics. [Transcript available on the Internet]. Washington DC: The President’s Council on Bioethics; 2008 [cited 2020 December 12]. https://bioethicsarchive.georgetown.edu/pcbe/reports/newborn_screening/index.html

  • Thompson-Branch A, Havranek T. Neonatal Hypoglycemia. Pediatr Rev. 2017;38(4):147–57.

    PubMed  CrossRef  Google Scholar 

  • Thornton PS, Stanley CA, De Leon DD, Harris D, Haymond MW, et al. Pediatric Endocrine Society. Recommendations from the pediatric endocrine society for evaluation and management of persistent hypoglycemia in neonates, infants, and children. J Pediatr. 2015;167(2):238–45.

    PubMed  CrossRef  Google Scholar 

  • Van den Bruel A, Thompson MJ, Haj-Hassan T, Stevens R, Moll H, Lakhanpaul M, et al. Diagnostic value of laboratory tests in identifying serious infections in febrile children: systematic review. BMJ. 2011;342:d3082.

    PubMed  CrossRef  Google Scholar 

  • Van Rossum HH, de Kraa N, Thomas M, Holleboom CAG, Castel A, van Rosssum. Comparison of the direct antiglobulin test and the eluate technique for diagnosing hemolytic disease of the newborn. Pract Lab Med. 2015;3:17–21.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Wagner N, Jackson Y, Chappius F, Posfay-Barbe KM. Screening and management of children at risk for Chagas disease. Pediatr Infect Dis J. 2016;35(3):335–7.

    PubMed  CrossRef  Google Scholar 

  • Wang C, Zhang X, Bialek S, Cannon MI. Attribution of congenital cytomegalovirus infection to primary versus nonprimary maternal infection. Clin Infect Dis. 2011;52:e11–3.

    PubMed  CrossRef  Google Scholar 

  • Wang L, Xu X, Zhang H, Qian J, Zhu J. Dried blood spots PCR assays to screen congenital cytomegalovirus infection: a meta-analysis. Virol J. 2015;12:60.

    CAS  PubMed  PubMed Central  CrossRef  Google Scholar 

  • Watchko JF. Common hematologic problems in the newborn nursery. Pediatr Clin N Am. 2015;62:509–24.

    CrossRef  Google Scholar 

  • Watts T, Stockman L, Martin J, Guilfoyle S, Vergeront J. Increased risk for mother-to-infant transmission of hepatitis C virus among transmission of hepatitis C virus among medicaid recipients―Wisconsin, 2011–2015. MMWR. 2017;66(42):1136–9.

    PubMed  PubMed Central  Google Scholar 

  • Weinberg GA, D’Angio CT. Laboratory aids for diagnosis of neonatal sepsis. In: Wilson CB, Nizet V, Maldonado YA, Remington JS, Klein JO, editors. Remington and Klein’s infectious diseases of the Fetus and newborn infant. 8th ed. Philadelphia, PA: Elsevier Saunders; 2016. p. 1132–43.

    Google Scholar 

  • Woll C, Neuman MI, Aronson PL. Management of the febrile young infant: update for the 21st century. Pediatr Emerg Care. 2017;33(11):748–53.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Yusuf C, Sontag MK, Miller J, Kellar-Guenther Y, McKasson S, Shone S, et al. Development of national newborn screening quality indicators in the United States. Int J Neonatal Screen. 2019;5:34.

    PubMed  PubMed Central  CrossRef  Google Scholar 

  • Zdravic D, Yougbare I, Vadasz B, Li C, Marshall AH, Chen P, Kjeldsen-Kragh J, Ni H. Fetal and neonatal alloimmune thrombocytopenia. Semin Fetal Neonatal Med. 2016;21(1):19–27.

    PubMed  CrossRef  Google Scholar 

Additional Reading for Specific Conditions in the Newborn Screening

  • Bodamer OA, Scott CR, Giugliani R. And on behalf of the Pompe disease Newborn screening working group. Newborn screening for Pompe disease. Pediatrics. 2017;140(Supplement 1):S4–S13.

    PubMed  CrossRef  Google Scholar 

  • King JR, Hammarström L. Newborn screening for primary immunodeficiency diseases: history, current and future practice. J Clin Immunol. 2018;38(1):56–66.

    CAS  PubMed  CrossRef  Google Scholar 

  • Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015;39(3):206–16.

    PubMed  CrossRef  Google Scholar 

  • Moser AB, Fatemi A. Newborn screening and emerging therapies for X-linked adrenoleukodystrophy. JAMA Neurol. 2018;75(10):1175–6.

    PubMed  CrossRef  Google Scholar 

  • Rosenfeld M, Sontag MK, Ren CL. Cystic fibrosis diagnosis and newborn screening. Pediatr Clin N Am. 2016;6:599–615. https://doi.org/10.1016/j.pcl.2016.04.004.

    CrossRef  Google Scholar 

  • Sharer JD. An overview of biochemical genetics. C P Hum Genet. 2016;89:17.1.1–17.16.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. School of Nursing, Columbia University, New York, NY, USA

    Rita Marie John

  2. Department of Infectious Disease, Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA

    Ashley N. Gyura & Emily R. Harrison

  3. ARNP - Department of Genetics, Mary Bridge Children’s Health Center/Multicare, Tacoma, WA, USA

    Bobbie Salveson

  4. University of Washington, Seattle, WA, USA

    Bobbie Salveson

Authors
  1. Rita Marie John
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ashley N. Gyura
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Emily R. Harrison
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bobbie Salveson
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Rita Marie John .

Editor information

Editors and Affiliations

  1. School of Nursing, Columbia University, New York, NY, USA

    Rita Marie John

Rights and permissions

Reprints and Permissions

Copyright information

© 2022 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Verify currency and authenticity via CrossMark

Cite this chapter

John, R.M., Gyura, A.N., Harrison, E.R., Salveson, B. (2022). Care of the Newborn. In: John, R.M. (eds) Pediatric Diagnostic Labs for Primary Care: An Evidence-based Approach. Springer, Cham. https://doi.org/10.1007/978-3-030-90642-9_3

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-90642-9_3

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-90641-2

  • Online ISBN: 978-3-030-90642-9

  • eBook Packages: MedicineMedicine (R0)