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Autism spectrum disorder (ASD) has a strong genetic basis, with research suggesting that approximately 30% of individuals with ASD have a known genetic cause. Advances in whole genome preimplantation genetic testing (PGT-WGS) now enable clinicians to screen embryos for specific single-gene forms of autism before pregnancy, giving prospective parents more insight into their genetic risks (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders).

Whole Genome Preimplantation Genetic Testing: How It Works

Preimplantation Genetic Testing (PGT) is performed on embryos created via in vitro fertilization (IVF). At the blastocyst stage (about five days after fertilization), a few cells can be safely removed from the embryo for genetic analysis. Whole-genome PGT (PGT-WGS) sequences the embryo’s entire DNA rather than focusing on a single gene – an important capability since autism can involve many different genes. Given that roughly 30% of autism cases have a known genetic cause (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders), this approach can identify whether an embryo carries a genetic variant known to cause monogenic autism.

A key advantage of whole-genome testing is its breadth: hundreds of relevant genes and markers can be examined at once. Orchid’s embryo screening scans for over 200 genes known to cause single gene causes of autism and other neurodevelopmental disorders (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). However, because not every cause of ASD is genetic or known, a negative result (embryo that screens negative) cannot guarantee a child will never develop ASD – it only means the likelihood is lower (What causes Autism?).

Benefits for Prospective Parents

Whole-genome embryo testing offers several practical benefits for couples planning a family:

• Informed decision-making: Genetic screening of embryos provides actionable information to help parents choose which embryo to implant (What causes Autism?). For example, if an embryo is found to carry a known autism-linked mutation, the parents can decide how to prioritize that embryo.
• Reduced risk and reassurance: By choosing an embryo without known autism-related genetic risk factors, families can greatly reduce the chance of having a child affected by a genetic form of ASD (What causes Autism?). This proactive step also provides peace of mind for parents.

In summary, whole-genome embryo testing empowers prospective parents to assess autism risk before pregnancy and take proactive steps. While it cannot predict every case of autism, it can identify embryos with known genetic forms of ASD, giving families greater confidence in planning for a healthy future child.

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