Genetic Diagnosis in a Baby

We take a look at the options for genetic diagnosis in a baby, both prenatally and following birth. We understand more about the different steps of this important process, and understand more about which symptoms might trigger the need for genetic diagnosis in an infant.

Prenatal genetic analysis and testing for genetic diagnosis in a baby

As awareness surrounding rare diseases and their detection grows, and with it more options for prenatal genetic testing and screening, more and more parents-to-be are opting to undergo prenatal testing in order to confirm or rule out a genetic diagnosis in their as yet unborn baby. 

In recent years especially the development of non-invasive prenatal genetic testing (NIPT) options has led to increased awareness about rare disease diagnosis in infants, both parentally and after birth. 

NIPT involves testing the cell-free DNA circulating in a pregnant woman’s blood. This DNA is shed into her blood from the placenta during her pregnancy. This placental DNA is identical to the DNA of her developing baby. Analyzing this DNA is a non-invasive, safe way to test without any harm to the pregnancy, unborn child and mother. Traditionally genetic diagnosis of an as yet unborn baby has involved invasive methods, such as amniocentesis, which carries a small risk of miscarriage.

Currently NIPT options test mainly for genetic syndromes caused by extra or missing chromosomes. These include Down syndrome, Trisomy 18, and Trisomy 13

As the technology improves, NIPT has increasing potential to be used to also identify genetic syndromes caused by mutations or changes in single genes. This development would increase the rate of accurate diagnosis in newborns considerably. 

Newborn genetic screening

For babies born in the developed world, newborn genetic screening is a standardized procedure performed at or just after birth. 

In the US, for example, this standardized screening involves taking a small blood sample from the heel of each newborn, usually within 48 hours of their birth. This blood sample is then tasted for up to 50 genetic syndromes or diseases, amongst them phenylketonuria (PKU), sickle cell disease, hypothyroidism, and G6PD. This testing usually leads to the diagnosis of around 3,000 infants who are positive for one of these 50 genetic diseases, a year. 

Newborn genetic screening is important in ensuring that newborns with a genetic disease, received early intervention and support for their condition. It is important also that parents receive this crucial support, especially in the very early stages of their parenthood. A positive result following newborn screening, should lead to a referral to a genetic counselor, in order to help parents better understand their child’s diagnosis and condition. 

Symptoms of a rare disease in a baby

Sometimes specific, or unique symptoms or features in a baby might lead to further investigation involving genetic counseling and genetic analysis

The following are some of the symptoms that might trigger a genetic diagnosis in a baby:

-An autism diagnosis, or autism symptoms

Developmental delay in babies, including the more severe global developmental delay

-Developmental delay in more than one area of a child’s development

-Severe developmental delay that does not correct with age or intervention and therapy

-Unique facial features 

-Restricted growth, and failure to thrive

-Accelerated growth

-Serious health or medical issues, with no confirmed medical or congenital cause

The first port of call, if a parent suspects signs or symptoms of a rare disease in their baby, is their pediatrician or family doctor. This meeting should be followed by genetic counseling, which can help parents understand their child’s symptoms within the context of possible rare diseases, if deemed relevant. This will be followed, in turn, by genetic analysis and testing if necessary. 

A more accurate solution

Diagnosing a rare disease in a baby has, in the past, been a complicated process, plagued with high rates of misdiagnosis, and long wait times. However, when early intervention is so important in improving outcomes for rare disease patients, early diagnosis in babies is crucial in ensuring help with their symptoms and conditions, in order to better improve their life outcomes.

FDNA Telehealth’s genetic counseling and genetic analysis solution aims to transform the world of genetic diagnosis for infants, children and adults. It connects parents to a global network of expert genetic counselors fast, and it ensures more targeted, precise recommendations for genetic testing and screening options. Access to their advanced AI genetic analysis tool, utilizing facial screening and imaging technology, also allows parents to understand their child’s facial features within the context of markers for rare diseases and genetic syndromes. 

Most importantly, online genetic counseling and diagnosis tools, allow parents to initiate their child’s genetic diagnosis process, giving them direct access to the platforms and solutions that can help accurately, and quickly, diagnose a rare disease. Improving genetic diagnosis in a baby, improving outcomes for rare disease patients, and connecting parents and families to the support they need to navigate and manage their child’s rare disease diagnosis, is driving more advanced, online solutions for genetic counseling and diagnosis.

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