18-22 Week Ultrasound Results

A hypoplastic nasal bone is when the bone at the top of the nose is smaller than average. A hypoplastic or absent nasal bone does not mean the baby does not have a nose. A hypoplastic nasal bone is usually a normal variation and does not affect the baby’s development but could be a sign for trisomy 21.

It is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss these results, and options for more testing. If your ultrasound showed that the baby has a hypoplastic (or absent) nasal bone, you are eligible for publicly-funded NIPT, regardless of whether you had other types of prenatal genetic screening.

An increased nuchal fold (6 mm or more) means that the skin at the base of the neck appears thicker than average. This is different from an increased nuchal translucency (NT), which is a marker in the first trimester of pregnancy that refers to having an increased amount of fluid behind the baby’s neck.

An increased nuchal fold is usually a normal variation and does not affect the baby’s development but could be a sign for trisomy 21. It is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing. If your ultrasound showed the baby has an increased nuchal fold, you are eligible for publicly-funded NIPT, regardless of whether you had other types of prenatal genetic screening.

An aberrant right subclavian artery refers to a difference in the development of the aortic arch (the top part of the main artery carrying blood away from the heart). This can be a normal variation with no implications for the health of the baby but can also be part of a more complex heart defect or a genetic condition.

If the aberrant right subclavian artery is seen with another soft marker, it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT.

An aberrant right subclavian artery may be seen on its own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

When pyelectasis is seen on ultrasound, it means the central area (or "pelvis") of the kidney is a bit large. This often disappears before birth and does not result in any problems for the baby. Other times, pyelectasis can be a sign that the urine does not flow freely from the baby's kidney to the bladder. 

If the pyelectasis is seen with another soft marker, it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT and more ultrasounds to monitor the kidneys. 

Pyelectasis may be seen on its own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

Some babies have clinodactyly, which means that they have a curved finger or toe (usually it is the little finger that is affected). Clinodactyly does not affect how well the finger or toe works. Clinodactyly does not generally come with other medical problems, but it can sometimes be part of a genetic condition, such as trisomy 21. The 18-22 week ultrasound can sometimes detect this.

If clinodactyly is seen with another soft marker, it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT. 

Clinodactly may be seen on its own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

A hyperechogenic bowel is when the baby's bowel (intestines) looks bright on ultrasound. A hyperechogenic bowel is usually a normal variation and does not affect the baby’s health or development. However, a hyperechogenic bowel can also be a sign for chromosome differences, certain infections, a blockage in the bowel or cystic fibrosis (a genetic condition that affects the lungs and other organs). All the different possibilities can be overwhelming, but it is important to remember the baby will most likely be born healthy. 

If hyperechogenic bowel is seen with another soft marker, it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT. 

A hyperechogenic bowel may be seen on its own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

An intracardiac echogenic focus (ICEF) is a small bright spot in a region of the baby’s heart. ICEFs happen due to a small deposit of calcium and are usually seen in a part of the heart that is called a ventricle (which pumps blood to the rest of the body). ICEFs are not considered a heart defect and do not cause any problems with the way the heart functions. ICEFs are usually a normal variation of the baby's development but could be a sign for trisomy 21.

If ICEFs are seen along with other soft markers, it is recommended that your health-care practitioner offers you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT.

ICEFs may be seen on their own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT and a referral to a genetics/MFM centre is not usually recommended. If you did not have any prenatal genetic screening in this pregnancy, you can consider having publicly-funded Second Trimester Screening (STS). 

The 18-22 week ultrasound measures certain arm and leg bones. Sometimes the long bones (humerus or femur) are shorter than average. Short long bones could be a normal variation of the baby’s development but could also be a sign for trisomy 21 or other conditions. 

If a short femur or short humerus is seen with another soft marker, it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT. 

A short femur or short humerus may be seen on its own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

Inside the brain, there are structures called ventricles that are normally filled with fluid. If the ventricles are too large (10 mm or more), you will be told that the baby has "ventriculomegaly". Many babies with ventriculomegaly are born healthy and do not have learning or developmental concerns. However, ventriculomegaly can be a sign for chromosome differences, certain infections, and other conditions. 

If ventriculomegaly is seen with another soft marker, it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre to discuss your results, and options for more testing, including publicly-funded NIPT. 

Ventriculomegaly may be seen on its own, without other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

A “choroid plexus cyst” is a small space (“cyst”) that fills with fluid in a part of the brain called the choroid plexus. The choroid plexus makes the fluid that surrounds the brain and spinal cord. The ultrasound may detect one or several of these cysts. CPCs do not cause any problems with the baby’s health or the way the brain functions. Most CPCs disappear by the third trimester of pregnancy.

If in addition to CPCs there are concerns with how the organs or structures of the baby are developing, this can be a sign for trisomy 18 and it is recommended for your health-care practitioner to offer you a referral to a genetics/MFM centre.

If CPCs are seen with another soft marker, this is not usually an indication for publicly-funded NIPT. Speak to your health-care practitioner about the recommended next steps for you.

CPCs may also be seen on their own without any other soft markers or concerns with how the baby is growing and developing. In this case, you are not eligible for publicly-funded NIPT and a referral to a genetics/MFM centre is not usually recommended. If you did not have any prenatal genetic screening in this pregnancy, you can consider having publicly-funded Second Trimester Screening (STS).