II. Epidemiology

  1. Risk of Congenital Anomaly if low risk mother: 2-4%
  2. Nearly half of pregnancies in the United States are unplanned
    1. Preconception Counseling allows for maternal health optimization and Teratogen avoidance prior to pregnancy

III. Indications

  1. All women of childbearing age
  2. Routine Health Maintenance exams
  3. Following negative Pregnancy Test
  4. Treatment for Sexually Transmitted Disease

IV. Pathophysiology

  1. See Teratogen Exposure
  2. Images
    1. fetalPlant.jpg

V. History: Obstetrical and Menstrual

  1. Anovulatory Bleeding (Metrorrhagia)
    1. Polycystic Ovary Syndrome
    2. Female Athlete Triad
    3. Premature Ovarian Failure
  2. Infertility history
    1. More than 6 months of actively trying to conceive
  3. Contraception History
  4. Recurrent Pregnancy Loss
    1. Couples with history of pregnancy loss
      1. Ultimately 70-80% will have a successful pregnancy
    2. Evaluation for 2-3 prior Spontaneous Abortions
      1. Karyotype
        1. Balanced chromosomal Rearrangements
        2. Translocations or Inversions
      2. Lupus Anticoagulant
        1. Activated Partial Thromboplastin Time (PTT)
        2. Kaolin Clotting time
  5. Preterm Labor (Pursue correctable factors)
    1. Cervical incompetence
    2. Uterine anomalies
    3. Maternal infections
  6. Birth defects
    1. See Pregnancy Risk Assessment for ethnic risks
    2. Cystic Fibrosis
    3. Nonsyndromic Hearing Loss
  7. Sexually Transmitted Infections (rescreen pre-pregnancy as indicated)
    1. Trichomoniasis
    2. Genital HPV (Cervical Dysplasia)
    3. Genital Herpes (HSV2)
    4. Chlamydia
    5. Gonorrhea
    6. Syphilis
    7. HIV Infection

VI. History: Medical

  1. Systemic Lupus Erythematosus
    1. High fetal loss rate, esp. with high SLE activity
    2. Clowse (2005) Arthritis Rheum 52:514-21 [PubMed]
  2. Diabetes Mellitus
    1. See Diabetes Mellitus Preconception Counseling
    2. Avoid ACE Inhibitors, Angiotensin Receptor Blocking Agents (ARB), and Statin agents
    3. Metformin may be continued, but other oral antiantidiabetic medications should be discontinued
    4. Insulin is preferred for Blood Sugars not controlled by Metformin
    5. Optimize Blood Glucose control with goal Hemoglobin A1C <6.5 to 7% prior to pregnancy
      1. Hyperglycemia is Teratogenic in first 12 weeks (associated with congenital abnormalities)
      2. Start Insulin as indicated
      3. Monitor for Hypoglycemia (be aware of decreased Hypoglycemia awareness)
      4. Observe for Diabetic Ketoacidosis
      5. Identify Diabetic Retinopathy prior to pregnancy (worsens in pregnancy)
  3. Bariatric Surgery
    1. Avoid pregnancy in the first 18 to 24 months after Bariatric Surgery
      1. Allow for weight loss and nutritional status to stabilize prior to pregnancy
      2. Use reliable Contraception (OCPs have lower efficacy in Obesity)
    2. Increased risk of Internal Hernia following Bariatric Surgery
      1. Internal Hernia is especially more common in first 18 months following Bariatric Surgery
    3. Unexpected pregnancy is more common
      1. Oral Contraceptive absorption is reduced and fertility improves with weight loss
    4. Nutritional deficiency is common in Bariatric Surgery
      1. Deficiencies include Vitamins A, B1, B6, B9, B12, C, D, E, K and iron
      2. Check standard Bariatric Surgery labs at recommended intervals (as for non-pregnant patients)
        1. Serum Folate
        2. Serum Ferritin
        3. Vitamin D
        4. Vitamin B12
        5. Serum Zinc
        6. Serum Calcium
      3. Supplements recommended prior to pregnancy and continue throughout pregnancy
        1. Multivitamin 2 daily
        2. Iron 65 mg daily (in addition to Multivitamin)
        3. Zinc 10 mg daily
        4. Copper 1 mg/day
        5. Folic Acid 400 mcg (600 Dietary Folate Equivalents or DFE) daily
        6. Vitamin D 400-800 mcg daily
        7. Vitamin B12 350 mcg daily
        8. Avoid excessive Vitamin A (no more than 5000 IU/day)
  4. Obesity (BMI >27-30 kg/m2)
    1. Obesity general risks
      1. Gestational Diabetes
      2. Hypertensive Disorders of Pregnancy (e.g. Preeclampsia)
      3. Fetal Macrosomia (associated with Shoulder Dystocia, operative delivery)
      4. Neural Tube Defect
      5. Cleft Lip and Palate
      6. Hydrocephalus
      7. Intrauterine Growth Retardation
      8. Congenital anomalies
      9. Spontaneous Abortion or Stillbirth
    2. Associated Neural Tube Defect (NTD) Risk
      1. Weight 80-90 kg: NTD Relative Risk 1.9 fold
      2. Weight over 100 kg: NTD Relative Risk 3 fold
  5. Underweight (BMI<18.5 kg/m2)
    1. Associated with nutritional deficiency and infants with Gastroschisis
    2. Evaluate for Eating Disorders prior to pregnancy
    3. Evaluate for food insecurity
      1. See Hunger Vital Sign Screen
  6. Chronic Hypertension
    1. See Hypertension in Pregnancy
    2. See Anti-Hypertensive Medications in Pregnancy
    3. Optimize Hypertension control (BP <140/90 mmHg) prior to pregnancy
    4. Maternal Hypertension related complications
      1. Preterm birth
      2. Pplacental abruption
      3. Intrauterine Growth Retardation
      4. Pregnancy Induced Hypertension (e.g. Preeclampsia)
      5. Fetal death
    5. Antihypertensives safe in pregnancy
      1. Methyldopa
      2. Labetalol
      3. Nifedipine XR
        1. Calcium Channel Blockers may be associated with IUGR
    6. Avoid agents associated with congenital defects
      1. ACE Inhibitors
      2. Angiotensin Receptor Blocking Agents
      3. Direct Renin Inhibitors (Tekturna)
      4. Mineralcorticoid Receptor Antagonists (e.g. Spironolactone, Eplerenone)
      5. Thiazide Diuretics
      6. Atenolol (associated with IUGR)
  7. Epilepsy
    1. See Epilepsy in Pregnancy
    2. Associated with 4-8% risk of congenital anomalies
    3. Folic Acid supplementation at 1000 to 4000 mcg daily starting 1-3 months before pregnancy
    4. Preferred agents include Lamotrigine and Levetiracetam
    5. Avoid Valproate, Phenytoin, Carbamazepine and Phenobarbital in pregnancy due to Teratogenicity risk
    6. Attempt to decrease antiepileptics to a single safe agent, at the lowest effective dose
    7. Seizures worsen during pregnancy in as many as one third of patients
  8. Deep Vein Thrombosis (DVT) or other Thromboembolism (or Thrombophilia)
    1. Risk of recurrence in pregnancy 7 to 12%
    2. Test for Thrombophilia
    3. Unfractionated Heparin and Low Molecular Weight Heparin are preferred in pregnancy
    4. Avoid Warfarin (Teratogenic) and newer Direct Oral Anticoagulants (DOACs) in pregnancy
  9. Major Depression
    1. See Depression Management in Pregnancy
    2. Selective Serotonin Reuptake Inhibitors
      1. Avoid Fluoxetine (Prozac) and Paroxetine (Paxil)
      2. Preferred SSRIs include Sertraline (Zoloft), Citalopram (Celexa) and Escitalopram (Lexapro)
  10. Anxiety Disorder
    1. Avoid Benzodiazepines (associated with Cleft Lip and Palate)
  11. Attention Deficit Disorder
    1. Stimulant Medications may be associated with birth defects (avoid)
    2. Anderson (2020) J Atten Disord 24(3): 479-89 [PubMed]
  12. Bipolar Disorder or Psychotic Disorders in Pregnancy
    1. Avoid Risperidone
  13. Asthma
    1. See Asthma in Pregnancy
    2. Inhaled Corticosteroids should be continued
    3. Optimize Asthma Management to minimize the risk that oral Corticosteroids will be needed
    4. Oral Corticosteroids are associated with IUGR, Cleft Palate and Preeclampsia risk
      1. Use oral Corticosteroids when the risk of Severe Asthma to mother and fetus exceeds that of Corticosteroid risk
  14. Acne Vulgaris
    1. Do not become pregnant on Isoretinoin (Accutane) due to serious Teratogenic effects
  15. Hypothyroidism
    1. See Hypothyroidism
    2. See Levothyroxine for dosing protocol
    3. Complicates 1 to 3 per 1000 pregnancies in U.S.
    4. Associated with fetal loss, Stillbirth, Preeclampsia, and IUGR
    5. Avoidance of uncorrected Hypothyroidism in Pregnancy is critical
      1. Obtain endocrinology Consultation
      2. Check Thyroid Stimulating Hormone (TSH) at earliest pregnancy diagnosis
      3. Increased dose required from earliest diagnosis of pregnancy until delivery
        1. Anticipate increasing dose by 30% as early as 4-6 weeks Gestational age
      4. Decrease dose to baseline immediately after delivery, and recheck TSH in 6-8 weeks
      5. Recheck TSH every trimester at minimum
  16. Hyperthyroidism
    1. Complicates 2 in 1000 pregnancies
    2. Associated with Miscarriage, preterm delivery, Preeclampsia, IUGR, CHF and Thyroid Storm
    3. Avoid pregnancy for 6 months after Radioactive Iodine ablation
    4. First trimester: Propylthiouracil (PTU)
      1. Switch to Methimazole after first trimester due to hepatotoxicity risk with PTU after first trimester
      2. Methimazole should be avoided in first timester due to possible Teratogenicity during that trimester
    5. Second trimester: Methimazole (Tapazole)
    6. Third trimester: Methimazole (Tapazole)
  17. HIV Infection
    1. Optimize management with Highly Active Antiretroviral Therapy prior to pregnancy
    2. See Anti-Retroviral Therapy for protocols in pregnancy
    3. Target undectable HIV Viral Load prior to pregnancy and maintain throughout pregnancy
    4. Offer HIV Preexposure Prophylaxis to those at high risk and review safe medications at conception (e.g. Truvada)
    5. Review decreased Oral Contraceptive effectiveness with many Antiretroviral medications
    6. Avoid Dolutegravir in pregnancy (associated with Neural Tube Defects)
  18. Miscellaneous conditions with an impact on pregnancy
    1. Phenylketonuria (PKU)
    2. Congenital Heart Disease (and other cardiac disease)
    3. Chronic Kidney Disease
    4. Hemoglobinopathies
    5. Cancer
    6. Intimate Partner Violence (physical abuse)

VII. History: Medications

  1. See Medications in Pregnancy
  2. Switch chronic medications with risk (Class D or X) to safer medications prior to conception
  3. Reduce medications to the lowest dosages and continue only the ones with significant benefit

VIII. History: Advanced Maternal Age-Related Risks

  1. Chromosomal Abnormalities
    1. Trisomy 13
    2. Trisomy 18
    3. Trisomy 21
  2. Age associated risk
    1. Age 35 year old Risk: 1 per 200 pregnancies
    2. Age 45 year old Risk: 1 per 20 pregnancies
  3. Diagnostic options
    1. Chorionic Villus Sampling: 9-11 weeks
    2. Early Amniocentesis: 12-14 weeks
    3. Traditional Amniocentesis: 15-16 weeks
    4. Fetal Blood Sampling: 2nd-3rd trimester
  4. Advanced Paternal Age
    1. Maternal age risk doubled if father's age >55 years

IX. History: Family related risk (consider genetic counselor if positive history)

X. History: Ethnicity (screen parents for carrier status)

  1. Sickle Cell Trait (screen with sickle cell smear)
    1. Black
    2. Indian
    3. Middle Eastern Descent
  2. Alpha or beta-Thalassemia (Screen for MCV<70)
    1. Southeast Asian (Laotian, Cambodian, Hmong, Thai)
    2. Mediterranean
    3. Black
    4. Indian
    5. Middle Eastern
  3. Ashkenazi Jewish Descent (East European)
    1. Recommended by ACMG and ACOG
      1. Tay-Sachs Disease (1/31 carrier rate, also seen in French Canadians)
      2. Canavan Disease (1/40 carrier rate)
    2. Recommended by ACMG (American College of Medical Genetics Genomics)
      1. Gaucher Disease (1/18 carrier rate)
      2. Niemann-Pick Disease Type A (1/90 carrier rate)
      3. Mucolipidosis IV (1/127 carrier rate)
    3. Additional conditions to consider screening per ACOG (American College of Obstetricians Gynecologists)
      1. Familial Hyperinsulinism (1/52 carrier rate)
      2. Glycogen Storage Disease Type 1 (1/71 carrier rate)
      3. Maple Syrup Urine Disease (1/81 carrier rate)
    4. References
      1. (2017) Obstet Gynecol 129(3): e41-55 [PubMed]
      2. Gross (2008) Genet Med 10(1): 54-6 [PubMed]

XI. History: Teratogen Exposure and Substances

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