What laboratory tests are recommended when trying to conceive?

Laboratory Testing When Trying to Conceive

Both partners should undergo simultaneous evaluation, with semen analysis for the male partner and assessment of ovulation, ovarian reserve, and tubal patency for the female partner as the essential initial laboratory tests.

Male Partner Laboratory Evaluation

Semen Analysis (Primary Test)

• At least two semen analyses performed one month apart are required for accurate assessment, as semen parameters are highly variable biological measures 1
• Collection should occur after 2-3 days of abstinence, examined within one hour, and kept at room or body temperature during transport 1
• Key parameters to assess include 1:
  • Volume: 1.5-5.0 mL
  • pH >7.2
  • Sperm concentration >20 million/mL
  • Total sperm count >40 million per ejaculate
  • Motility >50%
  • Normal morphology (varies by WHO vs. Kruger criteria)

Hormonal Testing (When Indicated)

• Serum testosterone and follicle-stimulating hormone (FSH) should be measured if 1:
  • Sperm concentration <10 million/mL
  • Sexual dysfunction is present
  • Clinical findings suggest endocrinopathy
  • Two abnormal semen analyses

Specialized Testing (Selective Cases)

• Post-ejaculatory urinalysis if ejaculate volume <1 mL to evaluate for retrograde ejaculation 1
• Genetic testing (karyotype and Y-chromosome analysis) should be offered before intracytoplasmic sperm injection in men with 1:
  • Nonobstructive azoospermia
  • Severe oligospermia (<5-10 million sperm/mL)
• Cystic fibrosis gene mutation testing for the female partner when male has congenital bilateral absence of vas deferens 1

Female Partner Laboratory Evaluation

Ovulation Assessment

• Mid-luteal phase serum progesterone (cycle day 21 in a 28-day cycle, or 7 days after presumed ovulation) is the gold standard to confirm ovulation 2, 3, 4
  • Progesterone >30 nmol/L supports ovulation 5
  • Regular menstrual cycles (21-35 days) suggest ovulatory function 5

Ovarian Reserve Testing

• Baseline hormonal evaluation on cycle day 3 (or days 2-4) should include 2:
  • FSH
  • Luteinizing hormone (LH)
  • Estradiol
• Anti-Müllerian hormone (AMH) can be measured on any cycle day as it doesn't fluctuate significantly and provides valuable ovarian reserve information 2
• Abnormal values indicate diminished ovarian reserve or hypothalamic-pituitary dysfunction 2

Timing Adjustments for Irregular Cycles

• For women with irregular cycles (<26 or >32 days), standard day 3 and day 21 testing may not accurately reflect hormonal status and timing should be adjusted based on cycle length 2
• For suspected premature ovarian insufficiency, measure LH, FSH, and estradiol regardless of cycle day 2

Structural Assessment

• Hysterosalpingography (HSG) is the primary test for evaluating uterine cavity and tubal patency in women with no risk factors for obstruction 6, 3, 4
• Laparoscopy or hysteroscopy is recommended for women with 6, 3:
  • History of endometriosis
  • Previous pelvic infections
  • Prior ectopic pregnancy
  • Abnormal HSG findings

Additional Female Testing (When Indicated)

• Thyroid function tests if symptoms of thyroid disease are present 1
• Prolactin levels if galactorrhea or menstrual irregularities exist 1
• Pelvic ultrasound to assess ovarian morphology and antral follicle count 5

Critical Timing Considerations

When to Initiate Evaluation

• After 12 months of unprotected intercourse for women <35 years 1, 6
• After 6 months for women 35-40 years 6, 7
• Immediate evaluation for women >40 years or those with known infertility risk factors 6, 7

Common Pitfalls to Avoid

• Never measure hormones during hormonal contraceptive use as results are unreliable for assessing ovarian function 2
• Single hormone measurements may not be diagnostic; serial measurements may be needed 2
• Failure to adjust timing of hormone testing for cycle length leads to misinterpretation 2
• Routine pregnancy testing is not necessary if clinical criteria for excluding pregnancy are met 1

Referral Indications

When to Refer to Specialists

• Abnormal hormone levels or semen parameters requiring specialized treatment 2
• Basic evaluation normal despite continued inability to conceive 2
• Early referral appropriate for women with 2:
  • Known risk factors for diminished ovarian reserve
  • Signs of ovarian dysfunction
  • Suspected premature ovarian insufficiency
• Male partners with abnormal semen analysis should be referred to specialists with expertise in male reproductive medicine 1

Preconception Health Optimization

Both partners should receive preconception health services to identify and modify biomedical, behavioral, and social risks 1. This includes screening for sexually transmitted diseases, optimizing chronic medical conditions, and counseling about lifestyle factors that may impact fertility 1.