Prof. Dr. Ali EKİZ

Prof. Dr. Ali EKİZ

Gynecology and Perinatology (Risky Pregnancy) Specialist

With over 15 years of professional experience, dozens of national and international research articles, and most importantly, his smiling face, Gynecology and Perinatology Specialist Prof. Dr. Ali EKİZ is with you.

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Markers on Detailed Ultrasound

What Are the Markers in Detailed Ultrasound?

Pregnancy is known as a very exciting experience for parents. It is a period in which sweet excitements are experienced and these excitements follow the tensions. Various studies can be done to share the excitement in the parent candidates and to prevent possible risks. At the beginning of these studies is detailed ultrasound.

Detailed ultrasonography is known as an imaging method used to provide detailed information about the development and health of the fetus. This examination is usually done between the 20th and 24th weeks of pregnancy and allows a detailed examination of the anatomical structures of the fetus.

In detailed ultrasound, some markers are investigated as well as the anomaly. These markers are findings that cause an increased risk of various degrees of Down Syndrome. The part of the detailed ultrasound that looks for markers is also called a genetic sonogram.

In this article, we have compiled the markers in detailed ultrasound for you.

What are the findings detected in detailed ultrasound?

In detailed ultrasound, roughly 4 different findings are investigated.

1. Structural anomaly: An abnormality related to the anatomy of any organ in the fetus can be defined as a structural abnormality. For example, heart perforation can be defined as absence of ear and absence of heart.

2. Functional anomaly: It means that the structural development of an organ is normal, but it cannot function properly. For example, in Supraventricular tachycardia, the heart develops normally, but because it works too fast, it causes heart failure. Another example In polycystic kidney disease, the appearance of the kidney may be normal, but the baby will not be able to develop in the womb because it cannot produce urine.

3. Indicator, namely soft marker: A marker is the name given to the findings that cause an increased risk for some diseases when detected even though there is no abnormality.

4. Maternal findings: During detailed ultrasound, some parts of the mother’s organs are examined as well as the fetus. For example, the ovaries, uterus, cervix are examined. An ovarian cyst or mass that the expectant mother does not know can be detected. It is detected if there is cervical insufficiency. Or, heart rhythm disorders in some expectant mothers can be detected during Doppler examination.

What Markers Are Detected in Detailed Ultrasound?

1. Hyperechogenic cardiac focus or luminosity in the heart or echogenic focus in the heart

All of the above definitions describe the same thing as a hyperechoic cardiac focus. It is not an abnormality of the heart. It doesn’t mean heart hole. It is a finding that can pass on its own. When detected, it causes a very small increased risk for Down syndrome. Detailed ultrasound should be performed by a perinatology specialist and fetal ECO should be performed. If the development of the heart and other organs is normal, it is not a cause for concern.

2. Increased nuchal thickness or increased nuchal fold

Nape thickness measurement is one of the most valuable measurements of ultrasound examination. The most important measurement time is between 11 and 14 weeks. Here, we will talk about the increase in the measurement in the detailed ultrasound time, that is, in the examination performed between 20-24 weeks. Up to the 22nd week, a nuchal translucency of more than 6 mm causes a significant increase in the risk of Down Syndrome. It is the cause of amniocentesis on its own. When an increase in nuchal translucency is suspected, a detailed ultrasound should be performed by a perinatologist.

3. Small nasal bone, Nazan Bone hypoplasia

Small nasal bone is used as a marker for Down syndrome. Being small for the week (below the 5th percentile) causes a serious increase in the risk of Down Syndrome just like the increase in nuchal thickness and is a reason for amniocentesis on its own. Nasal bone measurement is used as a marker in both 11-14 week detailed ultrasound and 20-24 detailed ultrasound. In case of doubt, a perinatology specialist should be consulted for detailed ultrasound.

4. Ventriculomegaly, fluid accumulation in the baby’s head

The baby’s brain has a network of spaces called the ventricular system. The widths of these gaps are measured in certain places. At the back of the brain, its width should be 10 mm or less. If it is between 10 and 12 mm, it is called mild ventriculomegaly. It is both a marker for Down syndrome and may turn into hydrocephalus in follow-up. Ventriculomegaly is a marker that increases the risk for both Down Syndrome and many other genetic diseases. It requires amniocentesis and detailed genetic examination.

5. Choroid Plexus Cyst, Cyst on the baby’s head

Choroid plexus cyst is a cyst between the cells in the baby’s brain that produce the cerebrospinal fluid. They can be one or many. They are completely harmless, but they must be distinguished from some very dangerous types of cysts in the brain. They are not dangerous if they are detected by a perinatologist and are not accompanied by any other abnormality. They disappear on their own.

6. Hyperechoic bowel, bowel gloss

The degree of brightness of the intestines of the baby in the mother’s womb is divided into 3 degrees. Grades I and II are usually harmless. Grade III brightness may be a precursor to some other abnormalities. It can be a harbinger of Down Syndrome, an infectious disease in the baby, intestinal obstructions and a disease called cystic fibrosis. It can also be an innocent finding of a baby who has had bleeding only in the first three months.

In summary: if any marker is suspected in a pregnant woman, a detailed ultrasound should be performed by a perinatology specialist to investigate both all other markers and all possible anomalies.


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