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Linking Family History in Obstetric and Pediatric Care: Assessing Risk for Genetic Disease and Birth Defects

A rising challenge in the use of family histories is the collection, translation, and transfer of that information among the family’s many health care providers. This is especially important during the periods before and between pregnancies—times of potentially unique opportunities for intervention.

  • Because pediatricians often see women more than their obstetricians do between pregnancies, pediatricians can play an important role in identifying family history information that can affect future pregnancies. They can also make families aware of the need to discuss that information with the mother’s clinician before future pregnancies to enhance continuity of care.

  • Pediatricians see children and their families many times during the child’s first year of life. So, they are more likely to find abnormalities that become important aspects of the family history for future pregnancies and for the health of the parents and older children. Also, the father’s family history is important and can be collected during a pediatric visit.

  • Identifying a family history of a condition before or between pregnancies gives the physician a chance to talk with the family about increased risk and to motivate behavior change and decision-making that might reduce risk and improve pregnancy and pediatric outcomes.

  • Identifying a family history of a condition during pregnancy can lead to early diagnosis. Such information can guide secondary interventions and decisions about issues such as location and mode of delivery. It also allows families and their physicians to plan for medical care during the newborn period and childhood.

  • Several tools commonly used during the prenatal period can be used before or between pregnancies to screen for increased risk on the basis of family history:

    • First PAGE, from the Foundation for Blood Research, asks about personal or family history of single-gene or chromosomal conditions, along with structural defects, exposures to teratogens, and recurrent miscarriages.

    • The antepartum record of the American College of Obstetricians and Gynecologists (ACOG) has a section on genetic screening and teratology counseling. This tool can screen for increased risk for many conditions in an infant’s mother, father, or other relatives.

    • ACOG’s obstetric medical history form gathers information about personal health history, exposures affecting health, gynecological health history, family history (including ethnicity) and genetic screening, and psychological history.

  • Family history is currently used to identify and assess risk for single-gene disorders, such as cystic fibrosis, sickle cell disease, and fragile X syndrome. It can also be relevant to assessing risk for chromosomal abnormalities, complex conditions like neural tube defects, and adverse birth outcomes such as placental abruption or preeclampsia.

  • Linking pediatric information with family medical history during periods before and between pregnancies allows for the most thorough assessment of risk and adds valuable information to that which obstetricians gather routinely during prenatal visits.

  • Pediatricians can aid this linkage by working with families and their obstetricians, family practitioners, and other health care providers. Such partnerships will increase knowledge and communication about risks and guide efforts to minimize risk and improve pregnancy outcome.

For More Information

For more information, please see the following Pediatrics supplement article:
Linking Family History in Obstetric and Pediatric Care: Assessing Risk for Genetic Disease and Birth Defects.


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