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Genetic counseling utilization by families with offspring affected by birth defects, Hawaii, 1986-2003

Mathias B Forrester1, Ruth D Merz

  • 1Hawaii Birth Defects Program, Honolulu, Hawaii, 96817-5157, USA.

American Journal of Medical Genetics. Part A
|April 14, 2007
PubMed

Insights

Genetic counseling utilization in Hawaii was 10.6% for infants with birth defects. Rates were higher for multiple defects, chromosomal abnormalities, malformation syndromes, and older maternal age.

Area of Science:

  • Medical Genetics
  • Public Health
  • Reproductive Health

Background:

  • Limited data exists on genetic counseling facility utilization for families with offspring affected by birth defects in the United States.
  • Understanding utilization patterns is crucial for improving access to genetic services.

Purpose of the Study:

  • To report on genetic counseling facility utilization rates in Hawaii for infants and fetuses with major birth defects.
  • To identify factors associated with higher or lower utilization of genetic counseling services.

Main Methods:

  • Retrospective analysis of a Hawaii birth defects registry (1986-2003).
  • Inclusion of all infants and fetuses with major birth defects, regardless of pregnancy outcome.
  • Calculation of rate ratios (RR) and 95% confidence intervals (CI) to evaluate utilization significance.

Main Results:

  • Overall genetic counseling utilization was 10.6% (1,596 of 15,104 cases).
  • Higher utilization was observed with multiple major birth defects (RR 3.06), chromosomal abnormalities (RR 4.25), malformation syndromes (RR 6.83), and maternal age ≥35 years (RR 1.59).
  • Utilization varied significantly by specific defect, ranging from 1.5% (pyloric stenosis) to 55.3% (holoprosencephaly).

Conclusions:

  • Genetic counseling utilization is significantly influenced by the presence of multiple birth defects, chromosomal abnormalities, malformation syndromes, specific defect types, pregnancy outcome (fetal death, termination), and maternal age.
  • Targeted interventions may be needed to improve equitable access to genetic counseling for all families affected by birth defects.

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