A Journey from Heartbreak to Hope
A 37-year-old woman and her 39-year-old husband (names withheld for privacy) came to us after facing unimaginable heartbreak. Over the course of several years, they conceived naturally on three separate occasions. Tragically, each pregnancy was diagnosed prenatally with Osteogenesis Imperfecta (OI)—a rare and often lethal genetic disorder that causes fragile bones, skeletal deformities, and, in its most severe forms, death before or shortly after birth.
Due to the seriousness of the condition, the couple made the painful but informed decision to terminate each pregnancy, including one at 24 weeks’ gestation performed overseas. As second cousins, their shared genetic background significantly increased their risk of inheriting the same faulty gene.
Diagnosis and Genetic Risk
After arriving in Australia, the couple consulted with Dr. Elzeiny, who arranged comprehensive genetic testing. The results confirmed that both partners were carriers of pathogenic mutations in the CRTAP gene, which plays a vital role in collagen processing and bone development.
When a child inherits two faulty copies (one from each parent), the result is a biallelic mutation, which can cause a severe and life-limiting form of OI.
“Mutation” refers to a change in the DNA sequence of a gene that can affect how the gene functions. “Pathogenic” mutations are changes known to cause disease.
Because this is an autosomal recessive condition, each pregnancy carried a 25% chance of being affected by the disorder.
Turning to Science: PGT-M and IVF
Following genetic counseling, the couple made the empowering decision to pursue In Vitro Fertilization (IVF) with Preimplantation Genetic Testing for Monogenic Disorders (PGT-M). This advanced technique allows embryos to be tested in the lab for specific genetic conditions before transfer to the uterus.
“Monogenic disorders” are conditions caused by mutations in a single gene, such as CRTAP in this case.
During IVF, 11 eggs were retrieved, and seven embryos were successfully created. Genetic testing showed that five of these embryos were unaffected by the CRTAP mutation. On 3rd May 2011, a single healthy embryo was transferred.
A Promising Outcome
To further ensure the baby’s health, confirmatory prenatal testing through either chorionic villus sampling (CVS) or amniocentesis was recommended—an important step even when PGT-M has been performed.
The patient eventually delivered a healthy baby girl via normal vaginal birth, free from Osteogenesis Imperfecta.
Expanding Their Family
Sixteen months later, after completing breastfeeding, the couple returned to Dr. Elzeiny to use another one of their frozen unaffected embryos. A second embryo transfer was successful, leading to the birth of a second healthy daughter, completing their family.
Discussion: The Power of Reproductive Genetics
This case exemplifies how modern reproductive genetics can transform the lives of families at risk of inheriting severe genetic conditions.
While PGT-M does not replace diagnostic prenatal testing, it offers a preventive and targeted approach, reducing the emotional trauma of discovering a lethal condition late in pregnancy.
Genetic Counseling and Reproductive Options
Couples at risk of inherited conditions may consider:
- PGT-M with IVF – to identify and transfer only unaffected embryos
- Prenatal testing – such as CVS or amniocentesis to confirm fetal health
- Use of donor sperm or eggs – from non-carriers to avoid passing on mutations
- Adoption – an alternative path to parenthood without genetic risks
A genetic counselor is essential in helping families understand these options and guiding them with compassion and clarity.
Final Thoughts
This story is incredibly moving. It’s a testament to the strength and resilience of a couple who faced repeated heartbreak and loss, yet never gave up on their dream of building a family. Their courage to keep trying, despite the weight of genetic risk and the pain of difficult decisions, speaks volumes about their love and determination.
Dr. Elzeiny’s thoughtful and careful approach, balancing science and compassion, was clearly vital in guiding them through this journey. It’s a reminder that real hope doesn’t just come from technology—it comes from listening, supporting, and working together with kindness and understanding.
For the couple, having two healthy children after so many setbacks is more than a medical victory. It’s a deeply personal triumph that shows what’s possible when you have the right care and a clear path forward. Their journey is proof that with the right information, support, and determination, even the hardest obstacles can be overcome.
I hope their story brings comfort to anyone going through similar challenges. It’s a powerful example that while the path can be tough, there is hope—and families can find their way through.
If you or someone you know is facing similar challenges, know that options exist—and so does hope.
