What laboratory tests should be ordered for a woman with fertility issues to evaluate ovulatory function, hormonal balance, and ovarian reserve?

Laboratory Testing for Female Fertility Evaluation

For women with fertility concerns, the essential laboratory workup includes: day 2-3 FSH and LH, anti-Müllerian hormone (AMH) measured on any cycle day, midluteal progesterone (day 21), TSH, and complete blood count, with additional infectious disease screening (chlamydia, gonorrhea, HIV, hepatitis B, rubella) and consideration of androgen levels and metabolic testing in women with irregular cycles. 1

Core Hormonal Assessment for Ovarian Reserve and Ovulatory Function

Ovarian Reserve Testing

• Anti-Müllerian hormone (AMH) is the most reliable marker of ovarian reserve and can be measured on any cycle day, making it the preferred initial test 1, 2
• AMH correlates with the number of growing follicles and helps predict response to ovarian stimulation, though it reflects oocyte quantity rather than quality or pregnancy potential 2
• Day 2-3 FSH and LH should be measured to assess ovarian reserve and pituitary function 1, 3
• Elevated basal FSH (day 3) is the most commonly utilized screening test and correlates with decreased pregnancy rates and increased cycle cancellation 4, 3
• Ovarian reserve testing is particularly important for women over 35 years who have not conceived after 6 months of attempting pregnancy 5

Ovulatory Function Assessment

• Midluteal progesterone (day 21 of a 28-day cycle) confirms ovulation and is essential for documenting ovulatory function 1, 3
• This should be timed appropriately based on the woman's actual cycle length, not assumed to be day 21 in all cases 3

Additional Endocrine Testing

Thyroid Function

• TSH measurement is recommended to rule out thyroid disorders that can significantly impact fertility 1

Metabolic and Androgen Assessment

• For women with irregular cycles or suspected PCOS, additional testing for androgen levels, glucose tolerance, and insulin resistance should be considered 1
• This is particularly relevant given that PCOS affects 4-13% of women and is the leading cause of anovulatory infertility 6

Infectious Disease Screening

The following infectious disease tests are recommended as part of comprehensive fertility assessment:

• Chlamydia and gonorrhea testing, as these can cause tubal damage and pelvic adhesions 1
• HIV and syphilis screening 1
• Hepatitis B surface antigen 1
• Rubella seronegativity screening with vaccination if indicated 1

Hematologic Assessment

• Complete blood count (CBC) to identify anemia or other hematologic abnormalities that could impact fertility 1

Important Clinical Considerations

Timing and Interpretation Caveats

• AMH levels may fluctuate throughout the menstrual cycle, particularly in women under 25 years, requiring cautious interpretation in younger patients 7
• Low FSH due to hypogonadotropic hypogonadism or hormonal contraceptive use may artificially lower AMH without reflecting true ovarian reserve 2
• There is an inverse correlation between body mass index and AMH that does not reflect actual ovarian response 2
• Age remains the strongest predictor of fertility treatment success, independent of ovarian reserve markers 2

When Additional Testing is Warranted

• Women with recurrent pregnancy loss should be considered for karyotyping and thrombophilia testing 1
• Antral follicle count via transvaginal ultrasound appears to be the most reliable test of ovarian reserve when combined with laboratory markers, though it requires skilled interpretation 4
• Laparoscopy may be required for definitive diagnosis in women with suspected endometriosis, as imaging may miss small implants 1, 7

Risk-Based Approach

• Women at higher risk of diminished ovarian reserve (prior chemotherapy, radiation, family history of early menopause, prior ovarian surgery) warrant earlier and more comprehensive testing 5
• Results suggesting diminished ovarian reserve should prompt counseling that the window of opportunity to conceive may be shorter than anticipated 5

Integration with Imaging

While laboratory testing is essential, it should be complemented by:

• Transvaginal ultrasound to evaluate ovarian morphology, measure ovarian volume, and perform antral follicle counts 7, 1
• When ovarian volume is <3 cm³ and <5 antral follicles are present, this suggests diminished ovarian reserve 7
• Hysterosalpingography or sonohysterography to assess tubal patency and uterine cavity abnormalities 1