A Journey of Resilience: Overcoming Genetic Hurdles for a Healthy Baby
A 36-year-old woman, married for nine years, came to us with deep hope and a heavy heart. She had a painful history of secondary infertility for five years. Her first child, a son, tragically passed away due to mitochondrial complex 1 deficiency, a rare genetic disorder. Later, her second natural conception ended in heartbreak at 14 weeks when testing revealed the same genetic problem, leading to a termination of pregnancy.
Determined to find a solution, the couple sought our help. After a thorough evaluation, the husband’s semen analysis and blood reports were normal. The wife’s blood and hormone levels were also normal, though her ultrasound revealed an adenomyotic uterus and ovaries with 6-7 antral follicles. Both the husband and wife had normal karyotypes.
Genetic counseling shed light on their condition, confirming that mitochondrial complex 1 deficiency is an autosomal recessive disease caused by mutations in the NDUFS1 gene. After targeted mutation analysis identified the genetic issue, we recommended IVF using their own eggs and sperm, combined with preimplantation genetic testing for monogenic diseases (PGT-M) and aneuploidy (PGT-A).
Stimulation began with recombinant FSH and LH, and the couple underwent ICSI. By day 5, six embryos were successfully formed and frozen. PGT-M/A testing revealed that one embryo was normal but mosaic, two embryos were carriers, and three were abnormal. Following genetic advice, we transferred the single mosaic embryo during a frozen embryo transfer (FET) cycle.
Incredibly, the patient conceived on the first attempt. Non-invasive prenatal testing (NIPT) and amniocentesis confirmed that all reports were normal, bringing immense relief to the couple.
Their long journey of challenges, loss, and perseverance culminated in a joyous outcome: the delivery of a full-term, healthy baby girl. Their unwavering hope and trust in medical science made this miracle possible, filling their lives with newfound happiness and love.
