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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:
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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, 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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Date:
March 11, 2009
Content source: National Center on Birth Defects and Developmental
Disabilities
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