Preconception counseling article

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Preconception Counseling Summary
By: Juliana Griggs, Candace Bridges, and Jennifer Dickson

Possessing a thorough knowledge base of family genetics and possible hereditary conditions can greatly aid in determining proper preconception care. A complete 3-generation family medical history with ethnicity information is perhaps the best genetic “test” available for preconception care. A preconception healthcare visit should also include a discussion of obstetric and medical history, along with the parental age upon delivery. Being aware of a potential hereditary disorder will help to improve prenatal care. If parents are concerned about passing on a certain disorder to future offspring, there are other options available: adoption, surrogacy, use of donor sperm, preimplantation genetic diagnosis after in vitro fertilization and thus transfer of only unaffected embryos, and avoidance of pregnancy.
Recommended for all women:
A daily multivitamin containing at least 400 micrograms of folate is recommended, beginning at least 1 month before conception. Folate has been proven to reduce the incidence of neural tube defects, orofacial clefting, limb deficiencies, cardiac defects, urinary tract defects, and omphalocele. Women may need increased folate intake if they have a medical history of diabetes mellitus, epilepsy, or a previous pregnancy with neural tube defects.
Women of all ethnicities should be made aware of the availability of cystic fibrosis-carrier screening.
Screening history by healthcare professional to include: a 3-generation family medical history from both parents, maternal age, maternal and paternal health conditions, obstetric history. Family medical history should be taken for the main purpose of identifying known genetic disorders, congenital malformations, developmental delay/mental retardation, and ethnicity.
Upon finding the possibility for disease, a referral may be given for a genetic counselor or clinical geneticist.

There are additional counseling/testing recommendations for these ethnicities:
White- cystic fibrosis
European- cystic fibrosis
Ashkenazi Jewish- Canavan disease, cystic fibrosis, familial dysautonomia, Tay-Sachs disease, Gaucher’s disease, Niemann-Pick disease type A, Bloom syndrome, mucolipidosis IV, Fanconi anemia group C
French-Canadian- Tay-Sachs disease
Cajun- Tay-Sachs disease
African- sickle cell disease/trait, thalassemia
Mediterranean- thalassemia
Asian- thalassemia

*It is important to remember that carrier testing is very personal to the individual and may result in psychological consequences. Therefore, this method of testing should only occur after an informed consent has been obtained.

Additional details from personal or family history that should prompt further counseling:
Chromosomal disorders (Trisomy 21, etc)
Clotting disorders
Deafness
Developmental delay/mental retardation (Fragile X syndrome, etc)
Early infant death
Heart defects
Other known genetic disorders (phenylketonuria, Marfan syndrome)
Neural tube defects
Familial cancer syndromes (known or suspected)
Familial history of other congenital malformations
Neural tube defects
Orofacial clefts
Recurrent miscarriages (> 2)
Sickle cell disease or trait
Sudden infant death syndrome
Thalassemia
Thrombophilia

In these cases, a referral to an appropriate specialist may be able to better quantify the potential risk for an affected pregnancy. If 1 member of the couple is found to have a chromosomal anomaly, preimplantation genetic diagnosis should be discussed.

Individuals with known risk factors should be counseled regarding how to best manage their condition during pregnancy as well as the chances that it will affect their child. For example women with sickle cell disease have an increased risk of premature labor and premature rupture of the membranes. Women with Marfan syndrome have an increased risk of aortic dissection during pregnancy. Specific care recommendations may be in order for affected individuals: women with sickle cell disease need increased amounts of folate; women with phenylketonuria should maintain diets low in phenylalanine before and during conception because infants who are born to women with > 20 mg/dL of phenylalanine are more likely to have microcephaly, developmental delay, growth restriction, and heart defects.

Although not all risk factors can be known, asking the right questions about risk factors, as well as knowing when to refer a patient for further testing/counseling, can make a significant difference in the overall outcomes of the childbearing process.

Other valuable information regarding preconception counseling can be found on page 73 of Maternity Nursing, 7th ed., by Lowdermilk and Perry.