Major genetic disorders and intellectual disability

Important Facts About NIPT You Should Know While Trying to Conceive

First, do you have any of these questions?

“Isn’t NIPT just a test for Down syndrome and three other chromosomal abnormalities?”
That understanding alone might not be enough.

Most facilities only test for “just three” conditions

The NIPT offered at many medical institutions only tests for these three conditions.

However, there is something we want you to know.
Chromosomal abnormalities on the 13th and 18th chromosomes are severe conditions where, in many cases, the baby passes away within their first year of life.
In other words, among these three, Down syndrome is the only “condition with a long-term impact after birth.”

There are chromosomal and genetic abnormalities that have a long-term impact after birth

There are chromosomal and genetic abnormalities that will continue to affect your child’s growth, development, and daily life for a long time after birth.
The three most typical examples are:

#1 Down Syndrome (Trisomy 21)

What kind of condition is it?

This is a condition where there are three copies of the 21st chromosome instead of the usual two.
It is considered the most common chromosomal abnormality.

What is the probability of it occurring?

Globally, it occurs in about 1 in 600 to 800 births.
While the risk increases with maternal age…
There is also data indicating that the majority of babies with Down syndrome are actually born to mothers under 35. Regardless of age, this is highly relevant to everyone who is trying to conceive or is in the early stages of pregnancy.

Main Symptoms & Characteristics

• Delay in intellectual development (Average IQ is around 50-70. Individual differences exist.)
• Low muscle tone (hypotonia, which can affect motor skill development.)
• Congenital heart defects (Seen in about 50% of children with the condition.)
• Gastrointestinal abnormalities (such as duodenal or esophageal atresia.)
• Physical features (flat facial profile, upward slanting eyes, small nose, short neck, etc.)
• Others: Hypothyroidism, hearing loss, vision impairment, sleep apnea, etc.

The severity of symptoms varies greatly from person to person.
Many children lead rich, fulfilling lives by utilizing medical support, developmental assistance, and special education.

What NIPT Tells You

By understanding the risks through NIPT during early pregnancy, you can calmly prepare for postnatal medical care, welfare support, and education.

#2 DiGeorge Syndrome (22q11.2 Deletion)

What kind of condition is it?

This is a congenital condition caused by a missing piece (microdeletion/partial deletion) of chromosome 22 at a location known as 22q11.2. It is also referred to as “22q11.2 Deletion Syndrome.”

What is the probability of it occurring?

1 in 4,000 to 5,000.
While rare, it is the most common microdeletion syndrome after Down syndrome.

Main Symptoms & Characteristics

• Congenital heart defects (such as Tetralogy of Fallot. Surgery may be required during the neonatal or infant periods.)
• Hypoparathyroidism (can cause hypocalcemia, leading to seizures.)
• Immunodeficiency (makes the child more susceptible to infections.)
• Cleft palate and a nasal-sounding voice
• Intellectual or developmental disabilities (associated with language delays, learning disabilities, ADHD, and Autism Spectrum Disorder.)
• Characteristic facial features (such as a small face or abnormally shaped ears.)

About Inheritance

There is a 50% chance of passing it to a child if a parent has the 22q11.2 deletion.
However, about 90% of cases are not inherited but occur as a spontaneous, new mutation.

Note: Standard NIPT (which tests only 3 chromosomes) does not screen for DiGeorge syndrome.
If you want to screen for conditions including intellectual disabilities, developmental disorders, and congenital heart defects, it is important to choose a plan that covers microdeletions and partial deletions.

#3 Sex Chromosome Abnormalities (XO, XXY, XYY, etc.)

Turner syndrome, Klinefelter syndrome, and XYY syndrome are prime examples.
While they are often unnoticeable from physical appearance alone, they can impact future growth, development, and reproductive capabilities.

Choosing a Testing Plan That “Doesn’t Overlook Intellectual Disabilities” Is Crucial

Rather than focusing solely on chromosomes 13 and 18, which have a relatively high infant mortality rate, the key is to choose “comprehensive testing that includes intellectual disabilities,” keeping in mind conditions that can affect living and learning for a long time after birth. This makes it easier to obtain information directly tied to practical life planning, such as family preparation, utilization of medical and welfare resources, and choices regarding childcare and education.

However, NIPT facilities certified by the Japanese Association of Medical Sciences only test for Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau Syndrome). Through Hiro Clinic’s NIPT, in collaboration with various testing laboratories, it is possible to prenatally screen for conditions involving intellectual disabilities and developmental disorders that could not be tested for previously. Take your time, and let’s align on the best choice for your family together.

In Conclusion

Because this is a precious baby conceived after a period of trying, it is completely natural to feel that you “want to know as much as possible” and “want to be prepared just in case.”
Hiro Clinic has a track record of over 75,000 NIPT procedures. We have established a system where you can undergo testing with peace of mind, offering rapid results and genetic counseling by doctors specializing in genetics.
While trying to conceive or during early pregnancy, take your time to choose the plan that best suits you and your family. There is no need to rush; we will sort it out together.