II. Epidemiology
- Risk of Congenital Anomaly if low risk mother: 2-4%
- Nearly half of pregnancies in the United States are unplanned
- Preconception Counseling allows for maternal health optimization and Teratogen avoidance prior to pregnancy
III. Indications
- All women of childbearing age
- Routine Health Maintenance exams
- Following negative Pregnancy Test
- Treatment for Sexually Transmitted Disease
IV. Pathophysiology
- See Teratogen Exposure
- Images
V. History: Obstetrical and Menstrual
- Anovulatory Bleeding (Metrorrhagia)
-
Infertility history
- More than 6 months of actively trying to conceive
- Contraception History
-
Recurrent Pregnancy Loss
- Couples with history of pregnancy loss
- Ultimately 70-80% will have a successful pregnancy
- Evaluation for 2-3 prior Spontaneous Abortions
- Karyotype
- Balanced chromosomal Rearrangements
- Translocations or Inversions
- Lupus Anticoagulant
- Activated Partial Thromboplastin Time (PTT)
- Kaolin Clotting time
- Karyotype
- Couples with history of pregnancy loss
-
Preterm Labor (Pursue correctable factors)
- Cervical incompetence
- Uterine anomalies
- Maternal infections
- Birth defects
- See Pregnancy Risk Assessment for ethnic risks
- Cystic Fibrosis
- Nonsyndromic Hearing Loss
- Sexually Transmitted Infections (rescreen pre-pregnancy as indicated)
VI. History: Medical
-
Systemic Lupus Erythematosus
- High fetal loss rate, esp. with high SLE activity
- Clowse (2005) Arthritis Rheum 52:514-21 [PubMed]
-
Diabetes Mellitus
- See Diabetes Mellitus Preconception Counseling
- Avoid ACE Inhibitors, Angiotensin Receptor Blocking Agents (ARB), and Statin agents
- Metformin may be continued, but other oral antiantidiabetic medications should be discontinued
- Insulin is preferred for Blood Sugars not controlled by Metformin
- Optimize Blood Glucose control with goal Hemoglobin A1C <6.5 to 7% prior to pregnancy
- Hyperglycemia is Teratogenic in first 12 weeks (associated with congenital abnormalities)
- Start Insulin as indicated
- Monitor for Hypoglycemia (be aware of decreased Hypoglycemia awareness)
- Observe for Diabetic Ketoacidosis
- Identify Diabetic Retinopathy prior to pregnancy (worsens in pregnancy)
-
Bariatric Surgery
- Avoid pregnancy in the first 18 to 24 months after Bariatric Surgery
- Allow for weight loss and nutritional status to stabilize prior to pregnancy
- Use reliable Contraception (OCPs have lower efficacy in Obesity)
- Increased risk of Internal Hernia following Bariatric Surgery
- Internal Hernia is especially more common in first 18 months following Bariatric Surgery
- Unexpected pregnancy is more common
- Oral Contraceptive absorption is reduced and fertility improves with weight loss
- Nutritional deficiency is common in Bariatric Surgery
- Deficiencies include Vitamins A, B1, B6, B9, B12, C, D, E, K and iron
- Check standard Bariatric Surgery labs at recommended intervals (as for non-pregnant patients)
- Supplements recommended prior to pregnancy and continue throughout pregnancy
- Multivitamin 2 daily
- Iron 65 mg daily (in addition to Multivitamin)
- Zinc 10 mg daily
- Copper 1 mg/day
- Folic Acid 400 mcg (600 Dietary Folate Equivalents or DFE) daily
- Vitamin D 400-800 mcg daily
- Vitamin B12 350 mcg daily
- Avoid excessive Vitamin A (no more than 5000 IU/day)
- Avoid pregnancy in the first 18 to 24 months after Bariatric Surgery
-
Obesity (BMI >27-30 kg/m2)
- Obesity general risks
- Gestational Diabetes
- Hypertensive Disorders of Pregnancy (e.g. Preeclampsia)
- Fetal Macrosomia (associated with Shoulder Dystocia, operative delivery)
- Neural Tube Defect
- Cleft Lip and Palate
- Hydrocephalus
- Intrauterine Growth Retardation
- Congenital anomalies
- Spontaneous Abortion or Stillbirth
- Associated Neural Tube Defect (NTD) Risk
- Weight 80-90 kg: NTD Relative Risk 1.9 fold
- Weight over 100 kg: NTD Relative Risk 3 fold
- Obesity general risks
- Underweight (BMI<18.5 kg/m2)
- Associated with nutritional deficiency and infants with Gastroschisis
- Evaluate for Eating Disorders prior to pregnancy
- Evaluate for food insecurity
- Chronic Hypertension
- See Hypertension in Pregnancy
- See Anti-Hypertensive Medications in Pregnancy
- Optimize Hypertension control (BP <140/90 mmHg) prior to pregnancy
- Maternal Hypertension related complications
- Preterm birth
- Pplacental abruption
- Intrauterine Growth Retardation
- Pregnancy Induced Hypertension (e.g. Preeclampsia)
- Fetal death
- Antihypertensives safe in pregnancy
- Methyldopa
- Labetalol
- Nifedipine XR
- Calcium Channel Blockers may be associated with IUGR
- Avoid agents associated with congenital defects
- ACE Inhibitors
- Angiotensin Receptor Blocking Agents
- Direct Renin Inhibitors (Tekturna)
- Mineralcorticoid Receptor Antagonists (e.g. Spironolactone, Eplerenone)
- Thiazide Diuretics
- Atenolol (associated with IUGR)
-
Epilepsy
- See Epilepsy in Pregnancy
- Associated with 4-8% risk of congenital anomalies
- Folic Acid supplementation at 1000 to 4000 mcg daily starting 1-3 months before pregnancy
- Preferred agents include Lamotrigine and Levetiracetam
- Avoid Valproate, Phenytoin, Carbamazepine and Phenobarbital in pregnancy due to Teratogenicity risk
- Attempt to decrease antiepileptics to a single safe agent, at the lowest effective dose
- Seizures worsen during pregnancy in as many as one third of patients
-
Deep Vein Thrombosis (DVT) or other Thromboembolism (or Thrombophilia)
- Risk of recurrence in pregnancy 7 to 12%
- Test for Thrombophilia
- Unfractionated Heparin and Low Molecular Weight Heparin are preferred in pregnancy
- Avoid Warfarin (Teratogenic) and newer Direct Oral Anticoagulants (DOACs) in pregnancy
-
Major Depression
- See Depression Management in Pregnancy
-
Selective Serotonin Reuptake Inhibitors
- Avoid Fluoxetine (Prozac) and Paroxetine (Paxil)
- Preferred SSRIs include Sertraline (Zoloft), Citalopram (Celexa) and Escitalopram (Lexapro)
-
Anxiety Disorder
- Avoid Benzodiazepines (associated with Cleft Lip and Palate)
-
Attention Deficit Disorder
- Stimulant Medications may be associated with birth defects (avoid)
- Anderson (2020) J Atten Disord 24(3): 479-89 [PubMed]
-
Bipolar Disorder or Psychotic Disorders in Pregnancy
- Avoid Risperidone
-
Asthma
- See Asthma in Pregnancy
- Inhaled Corticosteroids should be continued
- Optimize Asthma Management to minimize the risk that oral Corticosteroids will be needed
- Oral Corticosteroids are associated with IUGR, Cleft Palate and Preeclampsia risk
- Use oral Corticosteroids when the risk of Severe Asthma to mother and fetus exceeds that of Corticosteroid risk
- Acne Vulgaris
-
Hypothyroidism
- See Hypothyroidism
- See Levothyroxine for dosing protocol
- Complicates 1 to 3 per 1000 pregnancies in U.S.
- Associated with fetal loss, Stillbirth, Preeclampsia, and IUGR
- Avoidance of uncorrected Hypothyroidism in Pregnancy is critical
- Obtain endocrinology Consultation
- Check Thyroid Stimulating Hormone (TSH) at earliest pregnancy diagnosis
- Increased dose required from earliest diagnosis of pregnancy until delivery
- Anticipate increasing dose by 30% as early as 4-6 weeks Gestational age
- Decrease dose to baseline immediately after delivery, and recheck TSH in 6-8 weeks
- Recheck TSH every trimester at minimum
-
Hyperthyroidism
- Complicates 2 in 1000 pregnancies
- Associated with Miscarriage, preterm delivery, Preeclampsia, IUGR, CHF and Thyroid Storm
- Avoid pregnancy for 6 months after Radioactive Iodine ablation
- First trimester: Propylthiouracil (PTU)
- Switch to Methimazole after first trimester due to hepatotoxicity risk with PTU after first trimester
- Methimazole should be avoided in first timester due to possible Teratogenicity during that trimester
- Second trimester: Methimazole (Tapazole)
- Third trimester: Methimazole (Tapazole)
-
HIV Infection
- Optimize management with Highly Active Antiretroviral Therapy prior to pregnancy
- See Anti-Retroviral Therapy for protocols in pregnancy
- Target undectable HIV Viral Load prior to pregnancy and maintain throughout pregnancy
- Offer HIV Preexposure Prophylaxis to those at high risk and review safe medications at conception (e.g. Truvada)
- Review decreased Oral Contraceptive effectiveness with many Antiretroviral medications
- Avoid Dolutegravir in pregnancy (associated with Neural Tube Defects)
- Miscellaneous conditions with an impact on pregnancy
- Phenylketonuria (PKU)
- Congenital Heart Disease (and other cardiac disease)
- Chronic Kidney Disease
- Hemoglobinopathies
- Cancer
- Intimate Partner Violence (physical abuse)
VII. History: Medications
- See Medications in Pregnancy
- Switch chronic medications with risk (Class D or X) to safer medications prior to conception
- Reduce medications to the lowest dosages and continue only the ones with significant benefit
VIII. History: Advanced Maternal Age-Related Risks
- Chromosomal Abnormalities
- Trisomy 13
- Trisomy 18
- Trisomy 21
- Age associated risk
- Age 35 year old Risk: 1 per 200 pregnancies
- Age 45 year old Risk: 1 per 20 pregnancies
- Diagnostic options
- Chorionic Villus Sampling: 9-11 weeks
- Early Amniocentesis: 12-14 weeks
- Traditional Amniocentesis: 15-16 weeks
- Fetal Blood Sampling: 2nd-3rd trimester
- Advanced Paternal Age
- Maternal age risk doubled if father's age >55 years
IX. History: Family related risk (consider genetic counselor if positive history)
- Cystic Fibrosis
- Congenital Heart Disease
- Hemophilia
- Fragile X Syndrome
- Phenylketonuria (PKU)
- Dwarfism
- Spina bifida
- Limb abnormalities
- Duchenne Muscular Dystrophy
- Myotonic Dystrophy
X. History: Ethnicity (screen parents for carrier status)
-
Sickle Cell Trait (screen with sickle cell smear)
- Black
- Indian
- Middle Eastern Descent
- Alpha or beta-Thalassemia (Screen for MCV<70)
- Southeast Asian (Laotian, Cambodian, Hmong, Thai)
- Mediterranean
- Black
- Indian
- Middle Eastern
- Ashkenazi Jewish Descent (East European)
- Recommended by ACMG and ACOG
- Tay-Sachs Disease (1/31 carrier rate, also seen in French Canadians)
- Canavan Disease (1/40 carrier rate)
- Recommended by ACMG (American College of Medical Genetics Genomics)
- Gaucher Disease (1/18 carrier rate)
- Niemann-Pick Disease Type A (1/90 carrier rate)
- Mucolipidosis IV (1/127 carrier rate)
- Additional conditions to consider screening per ACOG (American College of Obstetricians Gynecologists)
- Familial Hyperinsulinism (1/52 carrier rate)
- Glycogen Storage Disease Type 1 (1/71 carrier rate)
- Maple Syrup Urine Disease (1/81 carrier rate)
- References
- Recommended by ACMG and ACOG
XI. History: Teratogen Exposure and Substances
- See Teratogen Exposure
- Includes Occupational Exposures in Pregnancy
- Includes Herbal Teratogens
- See Nutrition in Pregnancy
- Includes food Teratogens
- See Mercury Content in Fish
- See Radiation Exposure in Pregnancy
- See Medications in Pregnancy
- Substance Use
- See Substance Abuse in Pregnancy
- See Preconception Counseling for specific pregnancy guidelines
XII. References
- Wilkins in Ryan (1999) Kistner's Gynecology, p. 451
- Brundage (2002) Am Fam Physician 65(12):2507-14 [PubMed]
- Close (2023) Am Fam Physician 108(6): 605-13 [PubMed]
- Farahi (2013) Am Fam Physician 88(8): 499-506 [PubMed]
- Johnson (2006) MMWR Recomm Rep 55(RR-6): 1-23 [PubMed]
- Kruszka (2019) Am Fam Physician 99(1): 25-32 [PubMed]
- Leuzzi (1996) Med Clin North Am 80:337-74 [PubMed]
- Morrison (2000) Prim Care 27(1):1-12 [PubMed]
- Ramirez (2023) Am Fam Physician 108(2): 139-50 [PubMed]