The Anomaly Scan at 18-22 weeks

An anomaly scan, also known as detailed morphology scan, intends to take a closer look at the baby and the uterus. 

The Fetal Medicine Specialist will check how the baby is developing plus the position of the placenta. 

Anomaly scan is often called a 20-week scan; however, a patient may have it any time between 18 weeks and 22 weeks. 

Although the main target of the scan is as mentioned above, the gender, however, may be revealed by the Fetal Medicine Specialist if desired by the patient.  By 12 weeks gestation, gender accuracy is 95% while at 16 weeks, it is 99%++.

The whole scan takes about 30 minutes for a single gestation.  The Fetal Medicine Specialist will assess the fetal organs.

Major organs are mostly checked by cross section and measured, these are:

·         

    The shape and structure of the head and brain.

·         The Face - Cleft lip and Palate are checked while focusing on the face.

·         The Spine, its length and in cross section, making sure that all the bones            align, and that the skin covers the spine at the back.

·         The Heart. Normal structure, location, normal rhythm pattern.

·         The Abdominal wall making sure it covers all the internal organs at the              front.

·         The Stomach.

·         The Kidneys, confirming that the baby has 2 kidneys and bladder is visible.

·         Fetal Extremities. Arms, Hands, Fingers, Legs, Feet, Toes

The placenta location and structure, umbilical cord and the amniotic fluid are also checked.

To see how well the baby is growing, the HC (head circumference), AC (abdominal circumference) and FL (femur length-thigh bone) measurements should match up depending on when is the expected delivery date.

Authored by Dr. Afshin PourMirza, MD, PhD

Obstetrics and Gynaecology – Maternal Fetal Medicine

Managing Director of Feto Maternal and GenetYX Center

Hereditary Breast Cancer

The body is made up of trillions of living cells. These cells grow, divide, and die in an orderly fashion. This process is tightly regulated and is controlled by the DNA machinery within the cell. When cells of the body at a particular site start to grow out of control, they may become cancerous. Cancer cell growth is different from normal cell growth. This shift from normal cellular growth to abnormal cellular growth is caused by a damage of specific genes or DNA controlling cellular division.

DNA damage known as mutation may be inherited from parents; this will result in hereditary cancer. However, it may result from spontaneous problem that occurs during the lifetime of a person. DNA damage may also be triggered by exposure to certain environmental toxins such as those present in cigarette smoke, this will result in sporadic cancer. Hereditary form often occurs earlier than the sporadic form of the same cancer.

Breast cancer follows the same rules as other cancers. BRCA1 and BRCA2 are the most common genes involved in hereditary breast and ovarian cancers. Breast cancers linked to these mutations occur more often in younger women and more often affect both breasts than cancers not linked to these mutations. Women with these inherited mutations also have an increased risk for developing other cancers, particularly ovarian cancer. Tests that measure likelihood for a disease are called “predictive genetic tests.” Testing these genes does not detect whether a person has cancer or not; it indicates whether a person carries a change in one of these genes which can increase cancer risk.

Other gene mutations can also lead to inherited breast cancers. These gene mutations are much rarer and often do not increase the risk of breast cancer as much as the BRCA genes. If you have a family history of breast cancer, you should see genetic specialist to determine your risk and to explain for you the procedure to follow to determine if you have genetic susceptibility for breast cancer.

 

For early detection of sporadic breast cancer, every female has to do self-breast examination monthly starting at 20 years old. She should have a breast exam by doctor at least every 3 years starting at 20 and every year starting at 40 years. Mammogram is also recommended every 2 years starting at 40 years.

For hereditary breast cancer genetic counselling and genetic tests are not the only things to do. The screening strategy is more frequent with breast self-exam monthly from 18 years, clinical breast exam by doctor every 6-12 months from 25 years and annual Mammography screening from 25 years or younger if family history of breast cancer before 25 as well as annual MRI screening.

Early detection is very important as it will affect treatment modalities with better prognosis and lower risk of recurrence.

Dr. Azza Abd El Moneim Attia Mohamed

French Board

Consultant Clinical Genetics

Feto Maternal and GenetYX Center