18-22 week Detailed Anatomy 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 that your health-care provider 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 means there is 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 that your health-care provider 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 is 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 that does not affect the health of the baby but can also be part of a more complex heart defect or a genetic condition. 

If an aberrant right subclavian artery is seen on its own, without other soft markers or concerns about how the baby is growing and developing, you are not eligible for publicly funded NIPT. Speak to your health-care provider about the recommended next steps for you. 

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

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. 

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.

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. 

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. It usually does not 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 on its own, without other soft markers or concerns about how the baby is growing and developing, you are not eligible for publicly funded NIPT. Speak to your health-care provider about the recommended next steps for you. 

If clinodactyly is seen with another soft marker, it is recommended that your health-care provider 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 is when the baby's bowels (intestines) look bright on ultrasound. A hyperechogenic bowel is usually a normal variation and does not affect the baby’s health or development. However, it 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). 

If hyperechogenic bowel is seen on its own, without other soft markers or concerns about how the baby is growing and developing, you are not eligible for publicly funded NIPT. Speak to your health-care provider about the recommended next steps for you.

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

An intracardiac echogenic focus (ICEF) is a small bright spot on the baby’s heart. ICEFs are caused by 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). An ICEF is not a heart defect and does not cause any problems with the way the heart works. ICEFs are usually a normal variation of the baby's development but could be a sign for trisomy 21.

If ICEFs are seen on their own, without other soft markers or concerns about how the baby is growing and developing, 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).

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

The 18-22 week ultrasound measures certain arm and leg bones. Sometimes the "long bones" (humerus in the arm or femur in the leg) 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 on its own, without other soft markers or concerns about how the baby is growing and developing, you are not eligible for publicly-funded NIPT. Speak to your health-care provider about the recommended next steps for you.

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

Inside the brain, there are structures called ventricles that are normally filled with fluid. If the ventricles are measuring 10 mm or more wide, 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 of chromosome differences, certain infections, and other conditions. 

If ventriculomegaly is seen on its own, without other soft markers or concerns about how the baby is growing and developing, you are not eligible for publicly-funded NIPT. Speak to your health-care provider about the recommended next steps for you.

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

A “choroid plexus cyst” (CPC) is a small space (or a 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 see one or several of these cysts. CPCs do not cause any problems with the way the baby's brain functions or their health. Most CPCs disappear by the third trimester of pregnancy.

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

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 that your health-care provider offer you a referral to a genetics/MFM centre.