SEÑALES PREVENTIVAS

Assessing the likelihood of disease presence or development in apparently healthy individuals started with infectious diseases (Wilson & Jungner, 1968). In 1936, syphilis became the first prenatal screen to be mandated by federal law, with several states enacting state laws in the 1940’s (Institute of Medicine (US) & National Research Council (US) and Institute of

Medicine (US) Board on Children, Youth, and Families, 1999). Around the time this legislature was developed, syphilis accounted for the largest proportion of pregnancy losses and stillbirths in the U.S., making it a significant public health problem (Institute of Medicine (US) & National Research Council (US) and Institute of Medicine (US) Board on Children, Youth, and Families, 1999). Since the mid-twentieth century, perinatal population screening in the US has grown beyond syphilis to encompass non-communicable, chronic conditions (Wilson & Jungner, 1968), which are detectable in individuals who are pre-symptomatic. This arguably began with newborn screening, specifically mandatory testing for phenylketonuria in newborns in the 1960’s (Institute of Medicine (US) & National Research Council (US) and Institute of Medicine (US) Board on Children, Youth, and Families, 1999). The primary benefit in both situations lies in prevention, either primary or secondary, to reduce morbidity and/or mortality, and to minimize the economic impact of disease (Wilson & Jungner, 1968).

The association of maternal health with infant health, both prior to and during pregnancy, has been understood to some degree for hundreds of years (Freda, Moos, & Curtis, 2006). In a paper analyzing the history of preconception care, Freda, Moos, and Curtis (2006) make this point by quoting Plutarch, who described that in ancient Sparta, women were encouraged to be physically fit and strong to ensure the same in their offspring. Despite the ancient roots of an intuitive understanding of the link between maternal health and the health of babies, in the U.S. it was not until fairly recently that there was a purposeful shift in the focus of prevention of neonatal morbidity and mortality (Freda et al., 2006).

In the 1980’s, public health interventions began to move away from a main focus on interventions during pregnancy and infancy, to those that could be more effective if employed prior to a mother becoming pregnant (Freda et al., 2006). One classic example of this type of

primary prevention via a public health intervention involves an effort to reduce the occurrence of a birth defect. The mandatory fortification of cereal grain products with folic acid became an important public health intervention to drastically reduce women’s risks of having a child with an open neural tube defect; folic acid fortification was first implemented between 1996-1998 in the U.S. (Crider, Bailey, & Berry, 2011) and continues to date.

Beyond fortification, a second public health intervention intended for women with a higher than population risk for open neural tube defects based on family history is folic acid supplementation. All women are encouraged to take in 400 micrograms per day of folic acid from diet and supplementation prior to and during pregnancy, and it is recommended that women who have a previous pregnancy or close family member affected by an open neural tube defect, or have certain health conditions, take an additional supplement to achieve an intake of 4 milligrams per day (Copp et al., 2015; Farahi & Zolotor, 2013). This simple example illustrates the basic idea of any public health intervention: (1) identify a population at increased risk for a congenital condition and (2) employ an intervention.

Preconception screening, counseling, and perinatal healthcare (collectively referred to as family planning), is well-recognized for its valuable role in improving population health; it is one of the top ten public health achievements recognized by the CDC (1999). Family planning results in improved maternal and infant outcomes and reduces healthcare costs (Institute of Medicine (US) & National Research Council (US) and Institute of Medicine (US) Board on Children, Youth, and Families, 1999; Johnson et al., 2006; Lu, 2007). One major benefit of effective preconception care, including family planning, is the ability of women to avoid unintended, including untimed and undesired pregnancies, (Institute of Medicine (US) Committee on a Comprehensive Review of the HHS Office of Family Planning Title X Program, 2009). On average, compared to women with

planned pregnancies, women who have unintended pregnancies come later to prenatal care and are more likely to smoke and consume alcohol; exposure to smoking, alcohol, and drugs often occurs at a vulnerable point in embryonic development (Coles, 1994), that is, during the first two months of pregnancy (embryonic period and organogenesis) before a woman knows she is pregnant (Institute of Medicine (US) Committee on a Comprehensive Review of the HHS Office of Family Planning Title X Program, 2009). This becomes an important point in the discussion of NSCL/P, as maternal smoking and exposure to second-hand smoke is a well-established risk factor and alcohol has also been associated with increased risk (Bell et al., 2014; Pi et al., 2018; Xuan et al., 2016).

Evaluating the setting in which a screen will take place is an important consideration for any screening test (Becker et al., 2011), therefore, understanding what pre-conception counseling already includes is an important place to start. Nearly 50% of all pregnancies in the U.S. are unintended; therefore primary care for all women of reproductive age should routinely include preconception care and family planning considerations (Farahi & Zolotor, 2013). National organizations have put forward guidelines for preconception care including general issues that should be included. Recommendations include assessment of environmental exposures (e.g. workplace exposure to toxic chemicals), medication use, psychiatric illness, psychosocial health (including intimate partner violence screening), and substance use. Nutrition, infectious disease screening (e.g. Syphilis, Tuberculosis), and immunization status should be assessed. Management of chronic diseases such as diabetes, hypertension, and thyroid disease, and maintaining a healthy body weight should be discussed. Finally, family genetic history, including personal or family history of congenital anomalies or heritable genetic conditions, should be obtained; patients with positive family history should receive genetic counseling on modifiable risk factors and

testing/screening options (American College of Obstetricians and Gynecologists, 2019; Farahi & Zolotor, 2013). Of note, these current guidelines for preconception care in the primary care setting, if followed effectively, already address the currently known modifiable risk factors for NSCL/P.