Improving Health

Infant and Maternal Health

Phenylketonuria (PKU)

Thanks to NIH-supported research, all infants born in the U.S. are tested for Phenylketonuria (PKU)—a genetic disease that can cause seizures, deafness, and intellectual disabilities. This testing enables infants with the disorder to be put on a special low-protein diet, virtually eliminating PKU as a cause of intellectual disability in the U.S.

Image credit: Clinical Center, NIH

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  • PKU is a rare disease caused by the body's inability to break down a common part of most proteins, resulting in intellectual disability, seizures, and deafness.

  • In the 1950s, NIH researchers developed a low-protein diet for people with PKU that promoted normal development if started right after birth.

  • In the 1960s, NIH-supported researchers developed an inexpensive blood test to detect PKU in newborns, enabling mass screening and much earlier diet-based interventions.

  • NIH-supported research demonstrated that if adults with PKU follow the low-protein diet before and during pregnancy it ensures healthy infant development.

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Newborn Screening

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Mother holding young infant and speaking with a doctor

Thanks in part to NIH research, 4 million infants are screened in the U.S. each year for over 20 disorders that are treatable with early medical intervention. Newborn screening programs detect a treatable condition in 1 in 300 newborns, facilitating early interventions and preventing long-term health problems.

Image credit: National Institute of Child Health and Human Development, NIH

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  • Newborn screening can include several tests such as taking a few drops of blood from an infant’s heel, using an external monitor to measure blood oxygen levels, and hearing exams, among others.
  • These tests are used to detect serious, life-threatening diseases like critical congenital heart disease (CCHD), phenylketonuria (PKU), and severe combined immunodeficiency disorder (SCID).
  • For example, screening for CCHD reduces early infant deaths by 33%, or about 120 per year.

     

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Declining Newborn Mortality

The first month of life is the most vulnerable period for child survival. Long-term NIH investments in newborn health have contributed to a global decline in newborn mortality, from 5.0 million newborn deaths in 1990 to 2.3 million in 2022.

Image credit: National Library of Medicine, NIH

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  • The global decline in newborn deaths is a result of improved newborn screening, treatments for premature infants, better guidelines for newborn care, and more—all of which have been advanced by NIH-supported research.
  • For example, the introduction of prenatal steroids given to women at risk for pre-term birth helped to improve the survival rates in infants born as early as 23 weeks gestation.
  • Screening for critical congenital heart disease reduces early infant deaths by 33%, or about 120 per year.
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Infant Lung Health

NIH-supported research led to the development of treatments for respiratory distress syndrome (RDS), which has increased survival rates for premature infants born before 28 weeks gestation from 5% in the 1960s to over 90% today.

Image credit: National Institute of Child Health and Human Development, NIH

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  • RDS occurs when there is not enough surfactant in the lungs. Surfactant is a foamy substance made by the lungs that keeps the airways open, making it possible for babies to breathe in air after delivery.

  • RDS occurs in nearly all infants born before 28 weeks gestation and, while uncommon, can also occur in full-term infants.

  • In the early 1990s, FDA approved two synthetic lung surfactants—developed by NIH-supported research—for use as replacement surfactants in infants who suffer from RDS.

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Postpartum Depression

Thanks in part to decades of research by NIH researchers, FDA approved the first medications specifically for postpartum depression (PPD). About 1 in 8 people who give birth experience PPD, and the rate of depression diagnoses at delivery is increasing, with rates seven times higher in 2015 than in 2000.

Image credit: National Institute of Child Health and Human Development, NIH

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  • In the 1980s, NIH researchers discovered that levels of metabolites—products that are formed when hormones break down—fluctuate throughout the menstrual cycle and during times of stress (like pregnancy).
  • During pregnancy, certain metabolites increase significantly and then drop quickly after birth, which triggers PPD in some people.
  • Based on this research, a biopharmaceutical company developed brexanolone, an injectable treatment for PPD. In 2019, FDA approved brexanolone as the first treatment specifically for PPD, and in 2023, FDA approved zuranolone, the first oral treatment for PPD.
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Lupus and Pregnancy

Findings from NIH-supported research showing that people with lupus can have safe and healthy pregnancies resulted in a change in CDC guidance for people with lupus who are planning to become pregnant. Previously, patients with lupus were counseled to avoid becoming pregnant.

Image credit: istock

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  • NIH-supported researchers identified key factors that may put patients with lupus at risk for complications during pregnancy, so physicians are able to better counsel and monitor high-risk patients.
  • Now patients with lupus who are planning pregnancies have NIH-informed resources from CDC to help guide conversations with their physicians.
  • These findings are expected to significantly impact prenatal care and allocation of health care resources for the 1.5 million people in the U.S. with lupus, of which 90% are women.
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HIV and Pregnancy

Since the mid-1990s, NIH research has informed implementation of HIV testing and preventive interventions. HIV testing and interventions have resulted in a more than 90% decrease in the number of children with perinatally acquired HIV in the U.S.

Image credit: National Institute of Child Health and Human Development, NIH

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  • HIV can be transmitted during pregnancy, birth, or infant feeding. Perinatal transmission, also known as mother-to-child transmission, is the most common way that children get HIV. 
  • NIH-supported research showed that a three-drug regimen—called HAART, or highly active antiretroviral therapy—was shown to be better than the drug azidothymidine (AZT) at preventing mother-to-child transmission of HIV. 
  • HAART was shown to reduce the risk of perinatal transmission to 1.2%, and because of this and related interventions, an estimated 21,956 perinatally-acquired HIV cases have been prevented in the U.S. since 1994.
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References

    Phenylketonuria (PKU)

    1. Phenylketonuria (PKU) and Newborn Screening: https://www.nichd.nih.gov/about/accomplishments/contributions/pku
    2. Phenylketonuria (PKU): https://www.nichd.nih.gov/health/topics/pku
    3. What are common treatments for phenylketonuria (PKU)?: https://www.nichd.nih.gov/health/topics/pku/conditioninfo/treatments

    Newborn Screening

    1. Article: Major Accomplishment in Public Health Marks Its 50th Anniversary: https://www.nichd.nih.gov/newsroom/resources/spotlight/092413-sept-newborn-screening
    2. Brief History of Newborn Screening: https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/history
    3. Newborn Screening: https://www.nichd.nih.gov/health/topics/newborn
    4. Article: NIH-funded data resource advances understanding of diseases identified by newborn screening: https://www.nichd.nih.gov/newsroom/news/071321-newborn-screening
    5. Article: NIH-funded project leads to FDA-approved newborn screening device: https://www.nichd.nih.gov/newsroom/news/sbir_ma_020617
    6. Article: Test reliably detects inherited immune deficiency in newborns: https://www.nichd.nih.gov/newsroom/releases/082014-test-newborns

    Declining Newborn Mortality

    1. Newborn Mortality: https://www.who.int/news-room/fact-sheets/detail/newborn-mortality
    2. Rouse DJ, et al. N Engl J Med. 2008;359(9):895-905. PMID: 18753646
    3. Venkatesan T, et al. JAMA Pediatr. 2023;177(10):1085-1095. PMID: 37669025
    4. Article: Survival of the Tiniest: https://www.nichd.nih.gov/about/org/od/directors_corner/prev_updates/preterm-births-Feb2022
    5. Article: Prenatal steroid treatment may improve survival, reduce complications for extremely preterm infants: https://www.nih.gov/news-events/news-releases/prenatal-steroid-treatment-may-improve-survival-reduce-complications-extremely-preterm-infants

    Infant Lung Health

    1. Venkatesan T, et al. JAMA pediatrics. 2023;177,10: 1085-1095. PMID: 37669025
    2. Article: Survival of the Tiniest: https://www.nichd.nih.gov/about/org/od/directors_corner/prev_updates/preterm-births-Feb2022

    Postpartum Depression

    1. Article: Bench-to-Bedside: NIMH Research Leading to Brexanolone, First-Ever Drug Specifically for Postpartum Depression: https://www.nimh.nih.gov/news/science-news/2019/bench-to-bedside-nimh-research-leading-to-brexanolone-first-ever-drug-specifically-for-postpartum-depression
    2. Article: FDA approves first treatment for post-partum depression: https://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-post-partum-depression
    3. Bauman BL, et al. Morbid and Mort Weekly Report. 2020;69(19)575-581. PMID 32407302.
    4. Haight SC, et al. Ob and Gyn. 2019;133(6)1216-1223. PMID 32407302.
    5. Article: FDA Approves First Oral Treatment for Postpartum Depression: https://www.fda.gov/news-events/press-announcements/fda-approves-first-oral-treatment-postpartum-depression

    Lupus and Pregnancy

    1. Having a Healthy Pregnancy with Lupus: https://www.cdc.gov/lupus/basics/pregnancy.htm
    2. Breacher G, et al. Am J Clin Path. 1956;26: 1439-49. PMID: 13394550.
    3. Lupus facts and stats: https://www.lupus.org/resources/lupus-facts-and-statistics

    HIV and Pregnancy

    1. NICHD Contributions to Society: Nearly Eliminating Perinatal Transmission of HIV: https://www.nichd.nih.gov/about/accomplishments/contributions
    2. Tuomala RE, et al. N Engl J Med. 2002;346(24):1863-70. PMID: 12063370.
    3. Cooper ER, et al. J Acquir Immune Defic Syndr. 2002;29(5):484-94. PMID: 11981365.
    4. How is HIV passed from one person to another?: https://www.cdc.gov/hiv/basics/hiv-transmission/ways-people-get-hiv.html
    5. Little KM, et al. Pediatr Infect Dis J. 2017;36(1):66-71. PMID: 27749662.
    6. Connor EM, et al. N Engl J Med. 1994 Nov 3;331(18):1173-80. PMID: 7935654.

    This page last reviewed on December 30, 2024