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Conditions We Evaluate, Manage, and Aim to Treat

In our Reproductive Genetics Clinic at Âé¶¹¹û¶³´«Ã½ 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.