Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to site content Skip directly to page options
CDC Home

Data & Statistics

Pediatric genetics data and statistics include findings on newborn screening and related conditions; genetic and environmental factors and birth defects or other pregnancy outcomes; and prenatal genetic testing and birth defects.

Newborn Screening and Related Conditions

Trends in Incidence Rates of Congenital Hypothyroidism [Read article]

Primary congenital hypothyroidism (CH) is a common and preventable cause of intellectual disability (mental retardation). Consistent with other studies, this study found a higher rate of CH among infants of Hispanic ethnicity. The proportion of Hispanic births relative to non-Hispanic White and Black or African-American births has increased over time in the United States. This could explain some of the increase in the incidence rate of CH.

  • The incidence rate of CH increased in the United States from 2.9 cases per 10,000 births in 1991 to nearly 4.0 cases per 10,000 births in 2000. This was a 3% increase per year, for a total increase of 30.4% over the decade. However, the increase was not consistent across the United States.

The incidence rate of CH increased in the United States from 2.9 cases per 10,000 births in 1991 to nearly 4.0 cases per 10,000 births in 2000.


  • In the United States overall, a newborn's sex was not associated with the increasing CH-incidence rate. Boys and girls each had similar 4% to 5% increases from 1993 through 2000.
    • In contrast, in Texas, the increase in the CH-incidence rate was greater for boys than for girls from 1992 through 2006.
  • In Texas, Hispanic newborns, whether male or female, were significantly more likely to be diagnosed with CH than were newborns of the other racial or ethnic groups. Hispanic girls had a significantly higher CH incidence rate than any other racial or ethnic group.

  • In California, CH incidence rates were significantly higher among Hispanic and some Asian newborns than among non-Hispanic White newborns. Although the CH incidence rate was constant for non-Hispanic newborns from 2000 through 2007, the incidence rate for Hispanic newborns increased by 11%.

Race or Ethnicity

Incidence Rate per 10,000 Births (California)



Asian Indian


Asian (Chinese and Vietnamese)


Non-Hispanic White


Non-Hispanic Black or African American


Maternal and Neonatal Vitamin B12 Deficiency Detected Through Expanded Newborn Screening [Read summary]

A vitamin B12 deficiency can damage a baby’s nervous system. The extent and degree of disability depends on the severity and length of the deficiency. Therefore, finding and treating it early are critical. This study summarized risk factors among infants in the United States with a vitamin B12 deficiency identified through newborn screening.

  • Of the 32 newborns reported in this study with a vitamin B12 deficiency:

    • 7 were born to women who followed a vegan or strict vegetarian diet.
    • 3 were born to women who previously had undergone gastric bypass surgery.
    • 3 were born to women identified with autoimmune pernicious anemia.
    • 19 were identified as having a deficiency related to nutrition, but of an unknown cause.

Genetic and Environmental Factors and Birth Defects or Other Pregnancy Outcomes

Association of Paternal Age and Risk for Major Birth Defects [Read summary]

This study looked at the effect of the father’s age on certain birth defects using odds ratios (ORs). The OR represents the change in odds each year as the father ages. Therefore, 40-year-old fathers had increased odds of having a child with certain birth defects compared with 20-year-old fathers. This study indicated that the father’s age could affect slightly the risk of having a child with certain birth defects. This association could provide clues to the cause of these conditions. A father’s age should be considered as a possible risk factor for birth defects in future studies.

  • Each year increase in a father’s age correlated with increased odds of his having children with certain birth defects. These birth defects were cleft palate (OR = 1.02), diaphragmatic hernia (OR = 1.04), right ventricular outflow tract obstruction (OR = 1.03), and pulmonary valve stenosis (OR = 1.02).

  • For some birth defects, the OR differed, depending on the father’s age. At younger ages in the father (age 20 years and, for some categories, age 30 years), each year increase in age correlated with increased odds of the father’s having children with certain birth defects. These birth defects were encephalocele, cataract, esophageal atresia, anomalous pulmonary venous return, and coarctation of the aorta; however, these increased odds were not observed at older ages (age 40 years) for the same birth defects.

  • For some birth defects, the age of both parents needed to be considered to understand how the father’s age influenced the risk of having an affected child. These birth defects were gastroschisis, omphalocele, spina bifida, all orofacial clefts, and septal heart defects.

Contribution of Birth Defects and Genetic Diseases to Pediatric Hospitalizations [Read summary]

The goal of this study was to estimate the contribution of birth defects and genetic diseases to hospitalizations among children in two states (California and South Carolina).The study found that birth defects and genetic disorders cause significant disability and death among children.

  • Nearly 12% of children in California and South Carolina who were hospitalized had birth defects or genetic diseases.

  • Children in the hospital with birth defects and genetic diseases were, on average, about 3 years younger, stayed 3 days longer in a hospital, had 184% higher charges, and had a 4 1/2 times greater in-hospital death rate than children who were in the hospital for other reasons.

Trends in Pediatric Sickle Cell Disease-Related Mortality in the United States, 1983–2002 [Read summary]

Sickle cell disease is a common hereditary blood disorder in the United States, affecting an estimated 100,000 Americans. Finding sickle cell disease early through newborn screening helps to prevent deaths and other complications from the disease.

  • Relative to the rate from 1983 through 1986, the sickle cell disease death rate from 1999 through 2002 decreased by 68% at 0 through 3 years of age, by 39% at 4 through 9 years of age, and by 24% at 10 through 14 years of age.

  • For the most recent period studied, a significant (42%) reduction in death for children 0 through 3 years of age was seen from the period 1995 through 1998 to the period 1999 through 2002, with essentially no reduction in sickle cell disease death at older ages.

  • The reduction in sickle cell death seen during the 1999 through 2002 period coincided with the introduction in 2000 of a vaccine that protected against invasive pneumococcal disease.

Sickle Cell Disease Mortality Rate per 100,000 Black or African-American Children, United States, 1983–2002

Prenatal Genetic Testing and Birth Defects

Trisomies 13 and 18: Population Prevalences, Characteristics, and Prenatal Diagnosis [Read summary]

In recent years, prenatal diagnosis and the option to end pregnancy have affected the reported number of babies born with trisomies 13 and 18. This study looked at the number of children affected by and the features of these conditions. This study found that including case infants diagnosed during pregnancy is critical to accurately tracking and understanding trisomies 13 and 18.

  • Prenatal cytogenetic testing was reported among 71% of trisomy 13 case infants and 76% of trisomy 18 case infants.

  • Among mothers of case infants with prenatal cytogenetic tests, 61% of those with infants with trisomy 13 and 60% of those with infants with trisomy 18 had elective terminations.

  • The mother’s age was a risk factor for both conditions: 46.9% of the trisomy 13 case mothers and 67.1% of the trisomy 18 case mothers were 35 years of age or older.

  • Among liveborn infants with trisomy 18, 60.4% were female and 39.6% were male.

Prevalence of Infants and Fetuses with Trisomy 13 or 18, Metropolitan Atlanta, 1994-2003

Increased Risk for Transverse Digital Deficiency After Chorionic Villus Sampling [Read summary]

This study was done after infants were reported in 1991 with certain birth defects (transverse limb deficiencies) after their mothers had undergone prenatal testing by chorionic villus sampling (CVS). This study was important in helping researchers learn about the risk linked with CVS done during the 8th through 12th weeks of pregnancy. These data were necessary to provide accurate information on the risk for limb deficiencies associated with CVS.

  • Women who had CVS testing during the 8th through 12th weeks of pregnancy were about six times more likely to have a baby with a transverse digital deficiency than women who did not have CVS testing. In this study, the absolute risk for transverse digital deficiency in infants after CVS was estimated at 1 per 2900 births.

  • The earlier during pregnancy women had CVS testing, the higher the chance for birth defects of the digits. The risk was highest for those women who had been pregnant for 9 weeks or less.


Learn More about Health Insurance Market Place

Contact Us:
  • Centers for Disease Control and Prevention

    National Center on Birth Defects and Developmental Disabilities

    Division of Birth Defects and Developmental Disabilities

    1600 Clifton Road
    MS E-87
    Atlanta, GA 30333
  • 800-CDC-INFO
    TTY: (888) 232-6348
  • Contact CDC-INFO The U.S. Government's Official Web PortalDepartment of Health and Human Services
Centers for Disease Control and Prevention   1600 Clifton Rd. Atlanta, GA 30333, USA
800-CDC-INFO (800-232-4636) TTY: (888) 232-6348 - Contact CDC-INFO