Preconception Counseling: Identifying Patients at Risk
Christina C. Reed and Susan Drummond
Anemia
A woman’s health before conception influences her ability not only to conceive, but also to maintain pregnancy and to achieve a healthy outcome. Some women are unaware that their medical conditions, medications, occupational exposure, or social practices may have negative consequences in the earliest weeks of pregnancy, before the pregnancy test is positive. They don’t know that organogenesis begins around 17 days after fertilization. Steps to provide the ideal environment for the developing fetus are most likely to be effective if they precede the traditional initiation of prenatal care.
The goal of preconceptional care is to reduce perinatal mortality and morbidity. Targeting only self-referred women who are planning their next conception or women referred with risk factors can result in a significant number of missed opportunities for primary prevention. Nurses working with women of childbearing age and their families have a responsibility to promote reproductive health during every health encounter. Even among married women in the United States, the unintended pregnancy rate is nearly 40%; 85% of teen pregnancies are unintended.
During the antepartum period, assessment for routine screening exams should be performed to promote a healthy pregnancy. Topics of discussion should include status on current immunizations, assessing rubella immunity, determining hepatitis status, Pap smears, cultures for sexually transmitted infections (STIs), and reviewing the patient’s and the family history for chronic diseases, such as diabetes, hypertension, lupus, and so forth.
When discussing preconception plans, the patient’s history, as well as that of her partner, should be evaluated for poor health habits (alcohol, smoking, drug use), exposure to toxic substances (radiation and chemicals), multiple sexual partners (risk of HIV, hepatitis, and STIs), and racial or ethnic origin. Preconceptional evaluation should include the following:
A.Maternal age: Pregnancy-induced hypertension (PIH) occurs at the extreme of ages, insulin-dependent diabetes increases with maternal age, and the risks of Down syndrome and other chromosomal abnormalities increase with maternal age. Advanced maternal age (AMA) is defined as 35 years of age at delivery. The American College of Obstetricians and Gynecologists (ACOG) requires counseling on genetic screening/testing options for women of AMA.
B.Universal carrier screening is available for women who desire to know if they are carriers for an autosomal recessive disorder such as Tay–Sachs disease, sickle cell anemia, alpha and beta thalassemias, cystic fibrosis, and spinal muscular atrophy. Ideally, this blood test should be done preconceptionally, but it can be performed at any time during the pregnancy. If the screening test is positive, the woman’s partner can then be tested.
C.Social issues: Screen every woman for intimate partner violence. Research indicates that most abused women continue to be victimized during pregnancy and that the violence may escalate. Child abuse is also common in homes where there is abuse of adults. This assessment should be done only if the partner is not present. Information should be given to the patient concerning available community, social, and legal resources, and her immediate safety, the safety of her children, and an escape plan should be assessed. Report child abuse to the state’s mandatory reporting agency.
D.Financial: Discuss insurance, maternity benefits, workleave policy, and contingency plans for lost wages because of pregnancy complications with the patient.
E.Environmental and occupational considerations: Routine assessment of hobbies and home and employment environments may identify exposures that have been associated with adverse reproductive consequences that can be minimized in the preconceptual period.
F.Adverse fetal effects are dose-dependent and gestational age at exposure related to the following:
1.Radiation: Fetal effects include microcephaly, mental retardation, eye anomalies, intrauterine growth retardation (IUGR), and visceral malformations. Lead aprons should be used to protect the patient from any radiation exposures.
2.Heavy metals: Mercury exposure is related to brain damage and neuromuscular defects. Lead exposure is related to increased spontaneous abortion, low birth weight, brain damage, and increased premature rupture of membranes (PROM). Cadmium is retained by the fetal liver and kidney and is also associated with fetal craniofacial defects. Nickel is associated with neonatal deaths.
3.Pesticides: Occupations at risk for pesticide exposure include, but are not limited to, the following: ranch and farm workers (including migrant workers); gardeners (home and professional); groundskeepers; florists; structural pest control workers; hunting and fishing guides; healthcare workers who deal with contamination; and people employed in pesticide production, mixing, and application. Dioxin is associated with an increased rate of spontaneous abortion, myelomeningocele, and limb defects. The pesticides dichlorodiphenyltrichloroethane (DDT) and dichlorodiphenyldichloroethylene (DDE) are associated with increased abortion, prematurity, low birth weight, PIH, and early weaning.
4.Other: Carbon monoxide is associated with increased stillbirths, neurologic deficits, seizures, spasticity, and retarded psychomotor development. Ozone is associated with increased spontaneous abortion and increased structural defects. Anesthetic gases are associated with increased abortion, birth defects, low birth weight, and infertility.
G.Infectious diseases: See Chapters 18 (Sexually Transmitted Infections) and 19 (Infectious Diseases).
H.Medications: Assess and minimize the risk of exposure to medications by reviewing the patient’s use of prescription and nonprescription drugs, including herbal supplements. Provide the patient with information on the safest choices and avoiding drugs associated with fetal risks. Identify all prescription and nonprescription medications taken by the mother and partner to assess for risks to the fetus associated with current medications. Teratogenic defects linked to certain medications may include cleft lip and palate, congenital heart disease, microcephaly, caudal dysplasia, and caudal regression syndrome.
I.Medical problems: Health assessment of potential risk not only to the fetus but also to the woman, should she become pregnant, should be discussed. Care must be taken to identify and counsel all women whose life expectancy could be markedly reduced by pregnancy or whose fetus would have a high likelihood of complications. For example, women with known cardiac problems, epilepsy, transplanted organs, or uncontrolled diabetes and hypertension should be told of the risks associated with pregnancy:
1.Diabetes: Researchers have demonstrated a dose-related response between glycosylated hemoglobin (Hgb A1c) during the first trimester of pregnancy and the incidence of congenital defects: the better the glycemic control, the lower the risk for birth defects. The preconceptional plan for diabetes includes the following:
a.Change all patients on oral agents to insulin therapy before pregnancy is attempted.
b.Achieve strict plasma glucose control. ACOG recommends self blood glucose monitoring during pregnancy with the following glucose levels to be met:
i.Fasting: Less than or equal to 95 mg/dL.
ii.Preprandial glucose values less than 100 mg/dL.
iii.1-hour postprandial glucose levels less than 140 mg/dL.
iv.2-hour postprandial glucose levels less than 120 mg/dL.
v.Nighttime glucose levels should not drop below 60 mg/dL. Care should be taken to avoid hypoglycemia during pregnancy.
c.Reduce the Hgb A1c to 6% or less.
d.Assess the patient for vasculopathy, neuropathy, nephropathy, and retinopathy.
e.Refer the patient for genetic and nutritional counseling.
f.Enhance the woman’s knowledge of diabetes during pregnancy.
J.Nutrition: Dietary evaluation and recommendations of alternatives that may benefit the fetus’s development are important components of preconceptional counseling. Evaluation of nutritional status should include assessment of the appropriate weight for the patient’s height as well as a discussion of eating habits such as vegetarianism, fasting for religious or personal reasons, eating disorders, the use of megavitamins, and herbal supplements:
1.Neural tube defects (NTDs): In about 90% of the cases, NTDs are not expected on the basis of past history. NTDs are associated with multifactorial causes, including environmental factors, undernutrition (lack of folic acid), chromosomal defects, maternal hyperthermia, diabetes, clomiphene citrate (Clomid) induction, and maternal obesity. In 1996, the Food and Drug Administration (FDA) approved a population-based strategy, effective January 1998, to fortify grain food sources with folic acid. The recurrence risk of NTD is 2% to 3% without the use of preconceptional doses of folic acid. Even with the FDA strategy, folic acid supplement of 0.4 mg (400 mcg) per day at least 1 month before conception and during the first trimester of pregnancy is recommended. Women who have had a child with an NTD require higher doses of folic acid, 4 mg daily.
K.Obstetric considerations: Preconceptional reproductive history is an important tool for identifying factors that may be amenable to intervention. Review term, preterm, aborted (elective, spontaneous, and therapeutic) pregnancies, as well as a short history on living children. Review the gestational age at delivery of each neonate and any pregnancy and delivery complications. Preterm labor (PTL) has a 30% recurrence risk, and preeclampsia has a 5% to 70% recurrence rate in subsequent pregnancies. Women who developed severe features of preeclampsia and were delivered before 30 weeks’ gestation have the highest risk of preeclampsia in future pregnancies. In some instances, after preconceptual and genetic counseling, the couple may decide to forgo pregnancy or to use assisted reproductive technologies such as donor eggs and/or sperm.
L.Genetic screening: Recommended for all women. Genetic counseling for discussion of testing options is recommended if the mother is 35 years or older at the time of delivery, or if she has a family history of any abnormal genetic disorders, such as Down syndrome. The parents choose whether they would like to have genetic testing performed to evaluate the fetus for abnormal chromosomes. The following tests can be performed for genetic screening:
1.Noninvasive prenatal screening: Cell-free DNA from the fetus is found in maternal serum and can lead to prenatal identification of pregnancies at high risk for trisomy 13, 18, and 21, as well as detection of gender. This screen is a maternal blood test and can be done as early as 10 weeks. A positive screen should be confirmed with a diagnostic test such as CVS or amniocentesis.
2.Chorionic villus sampling (CVS): Performed at 10 to 12 weeks gestation.
3.Amniocentesis: Performed at 15 to 18 weeks gestation, ideally, but can be performed later in pregnancy.
a.Amniocentesis can also be performed to assess for spinal cord defects. Amniocentesis can detect elevated protein levels (alpha-fetoprotein and the presence of acetyl cholinesterase) in the amniotic fluid that is present in the event of a spinal cord defect. Therefore, if performing an amniocentesis, information regarding both genetic makeup and spinal cord defects can be determined during the single procedure of the amniocentesis.
M.Recurrent loss: The workup and counseling for recurrent losses include evaluation for a uterine defect (septal or bicornuate uterus or uterus didelphys), endocrine problems (luteal phase defect or hypothyroidism), chromosomal defects, or presence of antiphospholipid syndrome. Antiphospholipid syndrome is defined as the presence of maternal anticardiolipin antibodies and/or lupus anticoagulant in association with recurrent pregnancy loss, thrombotic events, and/or thrombocytopenia. Testing for anticardiolipin antibodies and lupus anticoagulant should be considered for women who have a history of three or more unexplained consecutive pregnancy losses before 10 weeks or have a history of one or more unexplained pregnancy losses after 10 weeks with a morphologically normal fetus. In the nonpregnant patient, thrombosis of a single vessel is the most common complication associated with antiphospholipid syndrome.
N.Lifestyle: Queries regarding a woman’s social lifestyle history should seek to identify behaviors and exposures that may compromise reproductive outcome. While environmental exposures are a frequent concern of couples considering pregnancy, women should be informed that, in general, maternal use of alcohol, tobacco, and other mood-altering drugs is more hazardous for a fetus than most other lifestyle choices:
1.Alcohol: Alcohol is a known teratogen. There is no safe limit of alcohol use during pregnancy. Women should be informed that prenatal alcohol consumption is a preventable cause of birth defects including neurodevelopmental deficits and intellectual disability. Research indicates that as many as 73% of 12- to 34-year-old women expose their fetuses to alcohol at some time during pregnancy.
2.Smoking: Fetal effects of smoking are also related to the dose–response effect. Smoking is associated with an increase in bleeding in pregnancy (abruption and placenta previa), IUGR, preterm birth (PTB), low birth weight, stillbirth, respiratory distress in the neonate, and sudden infant death syndrome. Counsel the patient on smoking cessation. Suggestions of ways to quit include tapering the use of nicotine (tapering and brand switching to lower tar and nicotine), monitoring smoking behavior, setting a contract to quit smoking, identifying social support or a buddy, and restricting area(s) such as a no smoking zone. Give the patient positive reinforcement for behavior change and cessation of the use of tobacco. Nicotine replacement therapy may be considered but only under close supervision with careful discussions with the patient, as the U.S. Preventive Services Task Force has concluded that nicotine replacement products during pregnancy have not been sufficiently evaluated for safety or efficacy.
3.Substance use: If substance exposure is complicated by addiction, structured recovery programs are usually needed to effect behavioral change. Substance use/abuse is teratogenic to the fetus, and cessation of all substances is imperative before, during, and after pregnancy.
O.Exercise: Exercise and recreational activities should be reviewed and discussed relative to safety, including the use of bike helmets, avoiding strenuous exercise, and hyperthermia. ACOG recommends that maternal heart rate (for pregnant women) not exceed 140 beats per minute (bpm). If the woman is not currently exercising, walking and swimming can be suggested. Heat exposure appears to be teratogenic. Use of saunas or hot tubs and high fevers in the first trimester have been associated with an increased risk of NTDs.
P.Preconception counseling helps to identify high-risk patients who need intensive care during pregnancy and delivery, and it identifies women who need referral for medical management, nutritional counseling, genetic counseling, or behavior modification. Prescribe a prenatal vitamin with the recommended 800 to 1,000 mcg daily of folic acid for any woman less than 35 years of age and 4,000 mcg daily of folic acid for women 35 years and older considering pregnancy.