Screening for birth defects and chromosomal abnormalities during the first trimester

With the advancement of screening techniques, it is now possible to identify chromosomal abnormalities and genetic mutation risks in developing fetuses at very early stages.

The first Trimester Screening or the NT scan only suggests the possibility of a chromosomal or birth defect, which needs to be further evaluated using a number of tests and discussions. We have tried to discuss the importance of NT scan in this post, in an attempt to make it helpful to all pregnant women.

While the NT scan is really crucial, it is also to be noted that they signify the risk level and do not provide conclusive answers. Additionally, these screening tests take into account the women’s age, weight, smoking status, previous pregnancies, and other factors in addition to the blood and ultrasound results.

The importance of the NT Scan

The importance of the NT Scan

A child’s development during pregnancy is a challenging process. Numerous things could go wrong, and the child’s development might be hampered. The Nuchal Translucency is performed to find any potential birth defects that the child may have. 

For instance, a child with Down Syndrome has more fluid behind the neck than a child who is healthy. In a similar vein, it aids in the identification of Turner’s syndrome. These two abnormalities are caused by aneuploidy disorders. 

However, some non-aneuploidy disorders are also detected using the ultrasound NT scan, including:

To perfectly date the pregnancy: This is especially helpful for women who have irregular menstrual cycles, for those who were pregnant while nursing, or if someone cannot recall when they last had their period.

Detection of multiple pregnancies: When having twins, a nuchal translucency (NT) scan is an important part of the initial screening for Down’s syndrome. 

Congenital heart conditions: This is a genetic defect in which the fetus’s heart does not develop properly during pregnancy.

Congenital diaphragmatic herniation: This condition occurs when the diaphragm does not develop properly during the fetus’ development.

Skeletal dysplasia: In an infant’s body, abnormal bone formation results in a condition known as skeletal dysplasia.

The VACTERL association: This is a collection of numerous anomalies that can occur during a child’s development during the gestational period.

Smith-Lemli-Opitz syndrome: Smith-Lemli-Opitz syndrome is the inability to synthesise cholesterol. 

All of these illnesses have the potential to kill both the mother and the child. In order to treat the developing embryo or the child after birth, early diagnoses are made.

Detection of sonar features: Your age is used to determine your starting point risk. Sonar features such as the presence of a nasal bone, which can be seen during the nuchal translucency (NT) scan, then modify. The thickness of the skin fold behind the fetal neck is referred to as the nuchal fold (NT).

Serum biochemistry tests: which measure the levels of two pregnancy-specific hormones, pregnancy-associated plasma protein A (PAPP-A) and hCG, are used to determine your risk. This data is used to calculate the likelihood of chromosomal abnormalities. If you are considered high-risk, you will be offered an amniocentesis. 

Cervical length: The cervical length will be measured in patients who are at high risk for preterm labor, and the results will be used to predict the risk of preterm labor, one of the causes of which is a medical condition known as cervical incompetence. Blood flow through the uterine arteries is also measured and used to predict the likelihood of pre-eclampsia and poor fetal growth, along with other factors.

Pre-eclampsia: This is a condition that can occur after 20 weeks of pregnancy. It is distinguished by high blood pressure and the presence of protein in the urine. Changes in liver function, edema (excessive swelling caused by excessive water retention), and clotting profile changes could all complicate matters. In the case of multiple pregnancies, this condition may develop before 20 weeks and last for some time after your baby is born.

Placental insufficiency: This occurs when the placenta does not function properly and cannot provide adequate nutrition to the fetus. It is frequently associated with pre-eclampsia, but it can also be caused by other factors such as smoking. Poor fetal growth, reduced amniotic fluid volume, and poor flow through the umbilical cord result from placental insufficiency. Growth restriction can be moderate, or severe, necessitating preterm delivery.

Additional importance of NT scan

Additional importance of NT scan

Informing parents about potential problems during pregnancy is an important part of providing good antenatal care. When a fetal condition is detected early, parents have the option of terminating the pregnancy or preparing to provide the best care to the affected child. It also prepares them to seek additional information, counseling, and assistance.

Babies with chromosomal abnormalities may require prenatal monitoring for abnormalities such as cardiac problems, among other things. Such babies will also require specialized care during their birth.

For more information on First Trimester or other pregnancy screenings, or to schedule a Jammi Scans, +91-7338771733 0r +91-44-43594620 or visit

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