Alpha IVF & Women’s Specialists Kuala Lumpur, part of Alpha IVF Group Berhad, announces a historic milestone in reproductive medicine: Malaysia’s first successful live birth of a healthy baby free from Severe Combined Immunodeficiency (SCID) following Preimplantation Genetic Testing for Monogenic Disorder (PGT‑M).
This achievement demonstrates that advanced technology, precision genetics, and collaborative care can prevent the transmission of life‑threatening hereditary diseases, offering hope to families who face genetic challenges.
A couple’s first child, born in 2022, passed away at five months due to SCID, a rare genetic disorder that severely affects the immune system. Subsequent genetic analysis revealed that both parents carried heterozygous JAK3 gene mutations (c.184+5G>A and c.2743C>T).
Determined to have a healthy child, they sought the expertise of Alpha IVF KL’s multidisciplinary team, led by Dr Lam Wei Kian, Consultant Obstetrician & Gynaecologist and Fertility Specialist, and Mr Steven Yap, Senior Geneticist.
To achieve a healthy pregnancy, the team used in vitro fertilisation (IVF), a procedure in which eggs and sperm are fertilised outside the body to create embryos. These embryos were first screened using Preimplantation Genetic Testing for Aneuploidy (PGT‑A) to ensure they had the correct number of chromosomes, reducing the risk of miscarriage or developmental complications.
They were then analysed with Preimplantation Genetic Testing for Monogenic Disorders (PGT‑M), which identifies specific inherited gene mutations such as those causing SCID. Of the three euploid embryos tested by PGT‑M, only one was found to be unaffected and safe for transfer, while the others were either carriers or affected by the mutation.
That single healthy embryo was carefully transferred and, against all odds, successfully implanted and developed into a full‑term pregnancy, culminating in the birth of a healthy baby boy on 5 May 2025.
The process involved close collaboration with Dr Mohd Azri Zainal Abidin, Paediatric Clinical Immunologist and Allergist from Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia (UPM), who conducted the immunological testing and DNA karyotyping, and Dr See Beng Teong, Consultant Paediatrician from Thomson Hospital Kota Damansara, who managed neonatal care. Immediately after birth, the newborn was admitted to an isolation area for careful observation. Dr Azri performed blood tests, including TBNK profiling and DNA karyotyping, which confirmed normal lymphocyte counts and a fully healthy immune system.
Follow‑up genetic testing at three weeks verified that the baby did not carry the harmful JAK3 mutations, remaining completely free from SCID and not even a carrier. Now seven months old, the baby has remained healthy since birth, providing the family with reassurance and joy.
“This success is deeply meaningful, not only to our team but to every family who has experienced the loss of a child due to genetic disease. Through science, compassion, and collaboration, we turned what was once an impossibility into reality, giving this couple a healthy baby and a second chance at joy.” — Dr Lam Wei Kian Consultant O&G and Fertility Specialist, Alpha IVF Kuala Lumpur
“This achievement demonstrates the power of precision genetics in Malaysia. PGT‑M allows us to identify and prevent the transmission of specific genetic mutations before pregnancy begins, offering families a chance to rewrite their future and prevent inherited conditions from affecting the next generation.” — Mr Steven Yap Senior Geneticist, Alpha IVF Kuala Lumpur
Severe Combined Immunodeficiency (SCID), sometimes called “bubble boy” disease, severely impairs the immune system, leaving infants highly susceptible to infections. Most affected babies appear healthy at birth but deteriorate rapidly without early diagnosis and treatment.
The success of this case highlights Alpha IVF Group’s commitment to medical innovation and excellence, combining cutting‑edge reproductive technologies with multidisciplinary expertise to deliver world‑class outcomes. “This milestone is not only a scientific breakthrough, but also a story of hope — proof that modern reproductive science can change the course of generations,” Dr Lam Wei Kian concluded.
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