Are Developmental Delays Common? Genetic Insights for IVF Parents

Are Developmental Delays Common? Genetic Insights for IVF Parents

Developmental delays refer to noticeable lags in a child’s growth or learning – for example, taking longer to start walking, talking, or learning skills compared to typical milestones. While some children overcome mild delays with time and support, others may face lasting challenges. This prevalence makes it crucial for expecting parents, especially those pursuing IVF, to understand the risks and consider proactive steps like genetic testing.

Written by Orchid Team

Medically reviewed by Dr. Nathan Slotnick, MD, PhD

Dr. Slotnick is a board certified Medical Geneticist and High Risk Obstetrician with over 40 years of practice. Throughout his career, Dr. Slotnick has dedicated himself to academic genomic and perinatal medicine with an expertise in research, teaching and programmatic development, consistently seeking ways to harness emerging technologies for the advancement of medicine, equity in healthcare and the enhancement of patient care.

Parents often wonder “are developmental delays common?” The answer is that developmental delays and disabilities are more common than many realize. In fact, about one in six children (≈17%) under age 18 has at least one developmental disability. Developmental delays refer to noticeable lags in a child’s growth or learning – for example, taking longer to start walking, talking, or learning skills compared to typical milestones (Is there genetic testing for Intellectual Disability and Developmental Delay?). While some children overcome mild delays with time and support, others may face lasting challenges. This prevalence makes it crucial for expecting parents, especially those pursuing IVF, to understand the risks and consider proactive steps like genetic testing.

Prevalence and Causes of Developmental Delays

Developmental delays are relatively common in early childhood. They encompass a broad range of conditions, from speech and motor delays to more global cognitive impairments. Research shows that genetics plays a significant role in these conditions, with over 30% of intellectual disability and developmental delay cases linked to an identifiable genetic cause. Scientists have found that various chromosomal differences (such as missing or extra pieces of chromosomes) and single-gene mutations can contribute to developmental disorders. The remaining cases often arise from a mix of genetic and environmental factors (Is there genetic testing for Intellectual Disability and Developmental Delay?), meaning not every developmental delay is inherited – some result from birth complications, infections, or other non-genetic influences.

This strong genetic component is important for family planning. If certain genetic risk factors for developmental delays can be identified before a child is conceived or born, parents might reduce the chance of having a child affected by a severe delay. This is where advanced reproductive genetics comes into play.

Whole-Genome PGT: Identifying Risks Before Pregnancy

Thanks to advances in IVF and genomics, embryos at risk of genetic forms of developmental and cognitive disabilities can now be identified – and even avoided – prior to pregnancy (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). In IVF, Preimplantation Genetic Testing (PGT) is a technique that examines the DNA of embryos before they are transferred to the uterus. Orchid Health’s services use a comprehensive form of this testing, whole-genome PGT, to screen embryos for a wide range of genetic variations associated with developmental delays. Orchid’s embryo screening reads the embryo’s entire genome, with particular focus on genes and chromosome regions tied to intellectual disability and developmental delay (Is there genetic testing for Intellectual Disability and Developmental Delay?). This far-reaching approach yields much more genetic information than standard IVF embryo tests, empowering parents and doctors to make informed decisions on which embryo to implant.

What kinds of genetic issues can whole-genome PGT uncover? For one, it can detect subtle chromosomal changes. Studies indicate that approximately 15–20% of individuals with neurodevelopmental disorders have extra or missing pieces of chromosomes. These chromosomal microdeletions or duplications (for example, a small missing segment on chromosome 4 that causes Wolf-Hirschhorn syndrome) can lead to significant developmental delays and disabilities. PGT can also identify single-gene disorders: roughly 10% of developmental delay or intellectual disability cases are caused by a mutation in a single gene (Is there genetic testing for Intellectual Disability and Developmental Delay?). Orchid’s whole-genome PGT specifically screens for a defined set of genes known to be linked to conditions like intellectual disability, autism spectrum disorders, and other neurodevelopmental issues.

Importantly, you do not need to have an existing family history of these conditions to benefit from embryo testing. Many severe developmental disorders occur de novo, meaning they result from new genetic mutations in the embryo rather than inheritance. For example, over 99% of Rett syndrome cases (a serious neurodevelopmental disorder) are caused by a random mutation with no family history. Orchid’s whole-genome embryo screening can detect hundreds of such non-inherited (de novo) genetic changes – in addition to inherited ones – in a single comprehensive test (Is there genetic testing for Intellectual Disability and Developmental Delay?). This gives IVF parents an unprecedented level of insight. Even embryos without any known familial risk factors can be evaluated for spontaneous genetic issues that might lead to developmental delays, allowing parents to select an embryo with the lowest risk profile.

Planning Ahead with Genetic Insights

Understanding that developmental delays are fairly common, prospective parents can take proactive steps to mitigate genetic risks. Whole-genome PGT offers a unique opportunity to assess an embryo’s risk factors for developmental delays before pregnancy. By identifying embryos not carrying certain high-risk genetic variants, parents and their fertility specialists can avoid transferring an embryo that might have a known predisposition to serious developmental conditions (Genetic Testing for Autism, Intellectual Disability, and other Neurodevelopmental Disorders). This doesn’t eliminate all uncertainty – no test can detect every possible cause of developmental delay, and not all developmental issues are genetic (Is there genetic testing for Intellectual Disability and Developmental Delay?). However, using a broad PGT panel dramatically expands the scope of detectable risks, covering many of the known genetic causes of intellectual and developmental disabilities.

In summary, developmental delays are indeed common in the population, but modern genetic screening is changing the outlook for future families. Orchid’s whole-genome PGT allows couples undergoing IVF to look at the genetic blueprint of their embryos and identify potential red flags for developmental disorders before pregnancy. Armed with this information, parents can make informed, confident choices – choosing embryos with fewer genetic risk factors and preparing early interventions if needed – ultimately striving to give their child the healthiest possible start in life.

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