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Woman with Inherited Rickets Successfully Gives Birth to Healthy Baby Using PGT-M at Lee Women's Hospital

▲Ms. Yang gives birth to a healthy baby through "PGT-M."

Ms. Yang, who suffers from the rare disease X-linked hypophosphatemic rickets, underwent a childhood of wearing leg braces and undergoing leg surgeries, enduring immense suffering. Due to the fear of passing on the condition to her offspring, she initially gave up the idea of having children. However, upon learning about the "Preimplantation Genetic Testing for Monogenic disorders (PGT-M)" (Note 1) IVF technique, she changed her mind. After several years of unsuccessful treatments, she switched to Lee Women's Hospital last year to undergo the latest fourth-generation IVF technology with government-assisted funding. The hospital utilized a customized PGT-M probe for genetic screening of embryos, followed by "Preimplantation Genetic Testing for Aneuploidies (PGT-A)" (Note 2) to eliminate embryos with chromosomal abnormalities. Additionally, an "AI Artificial Intelligence Embryo Selection Technology" and "Time-Lapse Embryo Monitoring Culture System (T/L)" (Note 3) were employed to select the best embryo for implantation. 

Finally, in May of this year, Ms. Yang successfully gave birth to a healthy baby boy. Both Ms. Yang and her husband express their gratitude to Dr. Chun-I Lee for his treatment and to Director Dr. Maw-Sheng Lee for establishing the Genetic Diagnosis Laboratory that transformed their lives. The hospital joyfully celebrates the baby's two-month milestone. 

Suffering from Rickets Since Childhood, Yang Overcomes Hesitations to Actively Pursue Parenthood

At the age of 35, Ms. Yang and her two sisters are afflicted with a rare hereditary disorder, X-linked Hypophosphatemic Rickets, passed down through the paternal lineage. This condition causes deformity in leg bones, resulting in bow legs (O-shaped legs), necessitating the long-term use of leg braces. "Wearing these shoes was excruciating when I was young. However, during middle school, I became self-conscious of my classmates' stares, so I resisted wearing the leg braces. After a period of not using them, my legs started to deform. In my third year of junior high, I underwent corrective surgery, almost experiencing tissue necrosis that would have led to amputation. Since then, my legs have been of unequal length due to the deformities..." 

Ms. Yang, who didn't want to pass on this agonizing experience to the next generation, decided to remain unmarried and childless. Nevertheless, fate introduced her to her kind future in-laws and boyfriend.

Cutting-edge 4th Generation IVF "PGT-M, PGT-A" Techniques Prevent Rare Disease in Offspring

In the first year of her marriage, Ms. Yang stumbled upon a media report about women with congenital diseases successfully giving birth to healthy children through PGT-M testing. This sparked a glimmer of hope for her, and with her husband's support, she sought treatment at the hospital. In her first egg retrieval procedure, 20 eggs were collected, resulting in the cultivation of 9 embryos. However, due to high cancer tumor indices, as well as myotonia, insufficient uterine lining thickness, and various other issues, she needed to address each problem individually, causing repeated delays in the implantation schedule. When implantation finally occurred, the fetus experienced a heartbeat loss in the third month of pregnancy, leaving her heartbroken. Subsequently, as she prepared for a second implantation, the hospital unexpectedly postponed the procedure, dealing a heavy blow to Ms. Yang after years of anticipation.

On July 1st, 2021, the government announced the implementation of the "Expanded IVF Subsidy Program." This renewed Ms. Yang's determination for one last attempt. She turned to Dr. Chun-I Lee at Lee Women's Hospital for assistance. Due to her X-linked Hypophosphatemic Rickets, Dr. Lee had the Genetic Diagnosis Laboratory design a probe for the PHEX 1735 c.G﹥A (p.G579R) gene locus associated with the disease. Subsequently, 18 eggs were retrieved from her, from which 5 embryos were cultured. Combined with 6 embryos brought from an external institution, all embryos underwent PGD testing. The results revealed that 4 embryos carried the kyphosis gene.

At that time, Ms. Yang was a 34-year-old expectant mother, and her chances of chromosomal variations were 40% higher than younger pregnant women. Therefore, Dr. Lee advised undergoing "Preimplantation Genetic Testing for Aneuploidies (PGT-A)" which revealed that an additional 3 embryos had chromosomal abnormalities, leaving only 4 embryos completely normal. Simultaneously, utilizing the "4th Generation IVF" with "AI Embryo Selection Technology" and "Time-Lapse Embryo Monitoring Culture System (T/L)," a single superior-grade embryo with a score of 95 was selected for implantation, leading to Ms. Yang's successful conception. For added caution, an amniocentesis was performed at 16 weeks of pregnancy, confirming the fetus's health and safety. In May of this year, she finally gave birth to a healthy baby boy weighing 2160 grams.

With her husband, Ms. Yang returned to the hospital with their son to express gratitude to Dr. Lee Junyi for his treatment and to Director Lee Maosheng for establishing the genetic laboratory that turned her life around. The whole family joyfully celebrated the baby's two-month milestone by cutting a cake together. Ms. Yang mentioned that when the baby turns 1 year old, they plan to have a second child because they still have 3 healthy embryos preserved at Lee Women's Hospital.

Lee Women's Hospital Advocates PGT-M and PGT-A to Benefit Couples with Rare Diseases

Director Lee of Lee Women's Hospital emphasized that the Genetic Diagnostic Laboratory is equipped with state-of-the-art hardware and software, and over the years, they have designed customized probes for patients to conduct genetic screenings. A single test can be performed in a patient's lifetime, which can aid women with rare diseases like Ms. Yang in conceiving healthy children. He reminded that if either partner in a couple has a congenital family disease, they can undergo genetic testing while preparing for conception. If abnormalities are detected, PGT-M technology can be employed to eliminate embryos with hereditary gene anomalies, allowing for the selection of high-quality embryos for implantation and the birth of healthy babies. 

Inherited Rickets Occurs at a Rate of 1 in 25,000, Higher Incidence in Female Offspring

Individuals with X-linked Hypophosphatemic Rickets experience mineral deficiency, leading to impaired bone mineralization, bow legs (O-shaped legs), susceptibility to fractures, and shorter stature (typically between 130 to 160 centimeters). According to European statistics, the incidence rate is approximately 1 in 25,000. Patients carry mutations in the PHEX gene (Xp.22) on the X chromosome, which prevents the formation of the normal degradable FGF23 protein. The inheritance pattern is X-linked recessive; if the father is affected (X abnormal, Y normal) and the mother is unaffected (both X chromosomes normal), daughters will have a 100% chance of developing the disease, while sons will be unaffected. If the mother is affected (one or both X chromosomes abnormal) and the father is unaffected (both X and Y chromosomes normal), both male and female offspring will have a 50% chance of developing the disease. This indicates a higher likelihood of disease manifestation in female offspring compared to males, although the severity of the condition tends to be more pronounced in affected males.

Note 1: Preimplantation Genetic Testing for Monogenic disorders (PGT-A), also known as PGD, involves analyzing cells from blastocyst-stage embryos before implantation to identify and exclude embryos carrying genetic disorders, ensuring the transfer of healthy embryos.

Note 2: Preimplantation Genetic Testing for Aneuploidy (PGT-A), also known as PGS, is a chromosomal analysis performed on embryos before implantation. The highly advanced high-resolution Next-Generation Sequencing (hr-NGS) platform can detect all 23 pairs of chromosomes with a 99% accuracy rate.

Note 3: "Embryo Real-Time Monitoring System (T/L)" observes embryos for 120 hours, with accumulated imaging data processed through a "Computer AI Artificial Intelligence System" to select the best embryos for implantation, significantly increasing pregnancy rates to 80%. Lee Women's Hospital pioneered this technology in 2019.

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