Minnesota Title V MCH Needs Assessment Fact Sheets

Pregnant Women, Mothers and Infants

Increase Access to Genetic Counseling

Summer 2004

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Size of the Problem

There are approximately 82,000 pregnancies each year in Minnesota including 68,000 live births, 13,000 abortions, and 350 fetal deaths of at least 20 weeks. These pregnancies occur to the estimated 1,096,832 women of childbearing age (15-44 years old) [1].

The March of Dimes estimates that 1 in 28 babies born each year will have a birth defect. In Minnesota, over 2,400 births would be affected. Approximately 20% of birth defects may be attributed to genetic factors, another 10% attributed to environmental factors including drug or alcohol abuse, infections, or exposure to certain medications or other chemicals. The causes of the remaining 70% are currently unknown [2].

Women who receive prenatal care are offered diagnostic testing such as the Triple Marker Screen used to identify neural tube defects and Down Syndrome. Chorionic villus sampling (CVS) and amniocentesis, if indicated, are performed to detect chromosomal abnormalities [3].

Reliable data on women who receive preconceptional care do not exist, but it is thought to be mainly women with chronic diseases and healthy, health-conscious women who have comprehensive health insurance and a regular source of health care. Preconception care may include risk assessment for genetic conditions based on family and pregnancy history [4].

Seriousness

Each year in Minnesota approximately 100 babies die from birth defects, the leading cause of infant death in the state. Approximately 29% of Minnesota’s infant deaths are from birth defects. Most deaths are due to cardiac defects believed to originate from both genetic and environmental causes [1,5].

Neural tube defects (NTDs) affect one in 2,000 babies nationally, approximately 30 babies in Minnesota each year. Both genetic and nutritional factors appear to play a role in NTDs. The B vitamin, folic acid, is known to reduce the risk of NTDs if a woman has sufficient folic acid in her diet and/or takes supplements before she is pregnant and throughout pregnancy. The March of Dimes recommends that all women of childbearing age consume 400 micrograms of folic acid daily to reduce the risk of NTDs in the event of pregnancy [2].

Disparities
Many birth defects do not appear on the birth certificate which provides the most comprehensive database on births in all racial and ethnic groups. Diagnosis of many birth defects occurs later in the infant’s first year of life. Of those infants who die before age one, death certificate data indicate that for all races except Blacks, the leading cause of infant death is birth defects. For Blacks, the leading cause is prematurity and related causes; birth defects are the second major cause [1].

Research has indicated that Hispanic women, particularly women of Mexican descent, are more at risk of NTDs than non-Hispanic women [6].

Disparities in access to health care including preconception care and prenatal care have been identified. According to Minnesota birth certificate data, rates of inadequate/no prenatal care are 3-4 times higher among populations of color and American Indians compared to whites. Rates of uninsurance are much higher among populations of color and American Indians and also higher among Whites in greater Minnesota than in the metropolitan area [7].

Disparities in geographic access to genetic counseling exist as genetic services are limited to the Twin Cities, Duluth, Rochester, and St. Cloud.

Economic loss
The estimate of total lifetime costs to Minnesota for 12 common birth defects that occur each year was calculated at $131 million [8].

Interventions

Prenatal or preconceptional genetic counseling should be offered to any couple with circumstances in which there is a definable increased risk for a fetal genetic disorder that can be diagnosed by one or more methods. Prenatal genetic screening or diagnosis should be voluntary and informed. Most genetic testing provides normal results and provides patients with a high degree of reassurance. Early fetal diagnosis affords the opportunity to provide intrauterine treatment, prepare for the birth of an affected child, or to terminate the pregnancy. It may also be important in establishing a plan for care during pregnancy, labor and delivery, and the immediate neonatal period. The key elements in genetic counseling are accurate diagnosis, good communication of risks and conditions, and nondirective presentation of options [3].

The Newborn Blood Spot screening is a state mandated test that requires participation from state hospitals/primary care providers. The newborn hearing test is voluntary and is performed at 98% of Minnesota birthing hospitals. Newborn screening in 2003 identified 80 blood spot disorders and 50 babies with hearing loss. Affected babies are at risk of mental retardation, physical disabilities and even death. But early identification and treatment greatly improves their future survival and functioning.

Status

Minnesota Resources

  • Access to genetic counselors and geneticists: limited in Minnesota to Level III Perinatal Centers located at eight hospitals: five in the Twin Cities and one each in Rochester, Duluth, and St. Cloud.
  • State Genomics Coordinator: educates both the public and professionals on genomics, the interaction of all human genes with each other, with the environment, and with human behavior and how these interactions impact health.
  • Early 2005, state Birth Defects Information System will: monitor incidence trends of birth defects, detect emerging health concerns, and identify affected populations, educate providers and the public, assure families receive appropriate services, prevent birth defects through targeted education, and stimulate research on risk factors, treatment, prevention, and cure of birth defects.
  • Newborn blood spot and hearing screening.

Community Awareness
The Newborn Screening programs are gradually creating more awareness as will the State Genomics Coordinator and the Birth Defects Information System.

References

1. MN Center for Health Statistics
2. March of Dimes Resource Center. www.modimes.org [Attn: Non-MDH Link]
3. ACOG, AAP. 2002 Guidelines for Perinatal Care, 5th Ed. Washington, DC.
4. Strobino et al. 1999. Issues in pregnancy care.#11. WCHPC. HRSA
5. Petrini et al. 2002. Contribution of birth defects to infant mortality in the US. Teratology. 66:S3-S6.
6. Shaw et al. 1997. Risk for neural tube defect-affected pregnancies among women of Mexican descent and white women in California. AJPH Vol.87(9):1467-1471.
7. MDH’s Health Economics Program. 2002. Minnesota’s uninsured: Findings from the 2001 health access survey.
8. http://healthyamericans.org/state/birthdefects/ [Attn: Non-MDH Link]