Conditions We Evaluate, Manage, and Aim to Treat

In our Reproductive Genetics Clinic at Stanford Medicine Children’s Health, we help diagnose and treat several common to rare genetic disorders related to reproduction, infertility, and pregnancy for people of all genders.

These conditions and circumstances broadly include:

• Female and male infertility (e.g., premature ovarian failure, low sperm count).
• Recurrent reproductive complications (e.g., recurrent pregnancy loss, recurrent triploidy—the most frequent chromosome difference in first-trimester miscarriages—and aneuploidy).
• Unusual results on perinatal and prenatal screenings and tests.
• Multiple failed in vitro fertilization (IVF) attempts (e.g., empty follicle syndrome).
• Family history of reproductive concerns, including egg and sperm donor screens, among you and/or your partner and your collective parents, siblings, and children.
• Differences of sexual development as it relates to reproduction.
• Abnormal sperm, egg, or embryo quality, including azoospermia, abnormal sperm morphology, oocyte (egg) maturation defects, blastocyst/embryonic arrest, hypogonadotropic hypogonadism, premature ovarian failure, congenital anomalies, and recurrent molar pregnancies.
• Pregnancy complications, including recurrent preeclampsia (hemolysis, elevated liver enzymes, and low platelets, or HELLP syndrome).
• Conceiving after losing a baby during pregnancy or after birth.
• Abnormal results on genetic tests, including carrier screening, preimplantation genetic testing, cell free DNA (cfDNA), and exome/genome sequencing.
• Genetic testing on remaining DNA after fetal and infant death to provide answers about reproductive risk and to guide future pregnancies.