Our appointment is tomorrow 😭👏🏼 finally. It's been 6 weeks since we've seen the babies and I'm dying to see how they've grown. Also, really looking forward to this visit because it's with the perinatologist so he'll be able to give us better information on the type of twins we have and the level of risk to expect. I googled his practice to read some reviews and everyone says he's incredibly thorough and very nice. Soo looking forward to it after our other ob experiences.
First Trimester Screenings- Pregnancy is a joyous journey filled with anticipation and excitement, especially for first-time mothers. As hea
Pregnancy is a joyous journey filled with anticipation and excitement, especially for first-time mothers. As healthcare professionals, we share in your eagerness to ensure a smooth pregnancy and the birth of a healthy baby. While the majority of pregnancies result in the joyous arrival of a healthy child, there is a small inherent risk of chromosomal abnormalities.
To provide reassurance and identify higher-risk pregnancies, prenatal screening becomes crucial. Scientific advancements in the last two decades have demonstrated that an ultrasound scan conducted between 11-14 weeks can detect up to 85-90% of chromosomal abnormalities, offering valuable insights for expectant mothers and their families.
What Is the First Trimester Screening?
The first-trimester screening, often known as the initial trimester screening, typically comprises a maternal blood screening test coupled with an ultrasound examination.
Why Is the First Trimester Screen Done?
The objective is to assess the potential presence of chromosomal issues (like Down syndrome or Edward syndrome) or birth defects (such as heart troubles) in the baby. It’s important to note that this is a preliminary test and not a definitive diagnosis. In cases where the results raise concerns, further testing is required to either confirm or dismiss the diagnosis.
What are chromosomal abnormalities?
Within our body’s cells, there are minuscule structures known as chromosomes, which house the genes dictating our development. Typically, individuals possess 23 pairs of chromosomes in each cell. During the cell production process for creating babies, these chromosome pairs undergo division and rearrangement. Occasionally, this division process may not occur accurately, resulting in the baby’s cells having an additional copy of chromosome 21. This occurrence leads to Down’s Syndrome, also known as Trisomy 21. Unfortunately, the extra chromosome cannot be eliminated from the cells, and as a result, there is currently no cure for this condition.
What does the trisomy 21 screening negative mean?
A negative result in the trisomy 21 screening indicates that no evidence of Down syndrome, attributed to an additional copy of chromosome 21, was identified during the screening test.
What is Down’s Syndrome?
Down’s Syndrome, the most prevalent chromosomal abnormality, involves the birth of a child with an additional chromosome 21. Worldwide, Down’s syndrome occurs in 1 out of 700 pregnancies. The term ‘syndrome’ refers to a collection of characteristic features. Individuals with Down’s Syndrome may experience learning difficulties, with varying degrees of severity. Additionally, there are associated physical problems; for instance, 40% may have a heart abnormality. While mothers over 35 face an elevated risk of having babies with Down’s syndrome, it’s noteworthy that over 75% of cases occur in mothers under the age of 35.
Will the tests tell me for certain if my baby has Down Syndrome?
We initiate the process by providing women with a non-invasive test known as a screening test, which poses no risk of miscarriage. Although screening tests don’t provide a definitive answer, they assist in identifying babies with an elevated risk of Down’s Syndrome. Subsequently, for women identified with an increased risk, we offer diagnostic tests that provide conclusive information. It’s important to note that diagnostic tests carry a small risk of miscarriage, leading us to offer them selectively to women with an established increased risk.
Combined first-trimester screening test:
At this clinic, you have the option to undergo a screening test for Down’s Syndrome, which includes both a scan and a blood test. This screening can be conducted between 11 to 14 weeks of pregnancy. During this stage, all babies have a thin film of fluid under the skin at the back of their neck, known as the nuchal translucency. The scan measures this translucency, and a blood sample is simultaneously taken from the mother’s arm. The blood test assesses substances passed from the baby to the mother, with varying amounts indicating potential Down’s Syndrome. Combining the blood test result, along with factors like the mother’s age, weight, and pregnancy stage, with the nuchal translucency measurement, yields the risk figure in the combined test. This risk assessment can also be calculated for twin pregnancies.
For those beyond 14 weeks during the first-trimester screening clinic, second-trimester screening is offered. This involves a blood test between 14-20 weeks, and the result is presented as a risk figure.
What is a high-risk (screen-positive) result?
Results from both screening tests for Down’s Syndrome are presented as a risk, such as ‘one in 100.’ These figures indicate the likelihood of the baby having Down’s Syndrome. For instance, a result of ‘one in 100’ means there is a one in 100 chance that the baby has Down’s Syndrome. If your screening result is higher than 1:250, additional tests will be offered. This is termed a high-risk or screen-positive result.
What is a low-risk (screen negative) result?
If the screening test indicates that the risk of your baby having Down’s Syndrome is lower than 1 in 250, this is considered a low-risk (screen-negative) result, and further tests will not be recommended. The majority of screening test results fall within this category. It’s crucial to note that a low-risk (screen-negative) result suggests that it is unlikely your baby has Down’s Syndrome. However, it’s important to acknowledge that some babies with Down’s Syndrome may not be identified through screening tests. Approximately 1 in 4 babies with Down’s Syndrome may not be detected through screening. Keep in mind that screening tests are part of a two-stage process, so if you receive a high-risk (screen-positive) result, it means we will offer you additional information and tests. It does not confirm that your baby has Down’s Syndrome.
What happens if I have a high-risk (screen-positive) result?
If the screening test indicates a chance greater than 1 in 250 for your baby having Down’s Syndrome, we will recommend a diagnostic test. On average, approximately one in 33 women screened receive a high-risk (screen-positive) result and are offered further diagnostic testing.
What does the trisomy 21 cut-off 1:250 mean?
A trisomy 21 cut-off of 1 in 250 signifies a screening outcome suggesting an elevated risk of Down syndrome during pregnancy. When the calculated risk reaches 1 in 250 or higher, additional evaluation or testing may be recommended to verify the potential presence of trisomy 21.
Diagnostic tests for Down’s Syndrome
There are two diagnostic tests offered for Down’s Syndrome,
Chorionic Villus Sampling (CVS)
Amniocentesis (amnio)
Are these procedures safe?
These procedures entail certain risks, which is why they are not universally offered. Among every 1000 women undergoing amniocentesis, one may experience a miscarriage. Similarly, for every 1000 women opting for CVS, one or two may encounter a miscarriage.
– Amniocentesis
– CVS (Chorionic Villus Sampling)
Why are Trimester Screenings Important?
First-trimester screenings are crucial for several reasons:
Early Detection: These screenings can identify potential chromosomal abnormalities and other fetal health conditions in the early stages of pregnancy. This allows for prompt and suitable medical interventions and counseling.
Informed Decision-Making: The outcomes of the first-trimester screening offer expectant parents crucial information, enabling informed decisions on additional diagnostic testing. Procedures like chorionic villus sampling (CVS) or amniocentesis provide more definitive results but come with a slight risk of miscarriage.
Emotional Preparation: Gaining insight into potential risks and challenges empowers expectant parents to emotionally ready themselves for various outcomes, providing an opportunity to seek support or resources when necessary.
Increased Bonding: Engaging in screenings and gaining insights into the baby’s development can cultivate a stronger connection between expectant parents and their blossoming child.
Conclusion
Embark on the journey of parenthood with confidence through first-trimester screenings, offering a window into the health of your unborn child. These non-invasive tests empower parents with crucial information about potential chromosomal abnormalities and other health conditions. By making informed decisions early on, healthcare providers can tailor care and support to ensure the well-being of both you and your baby. Embrace this exciting chapter with the assurance that you’re taking proactive steps for a healthy future.
First Trimester Screening | Mothers and Fetuses Group
During the first 12 weeks of pregnancy, pregnant moms can have a specific test called first trimester screening. This test is available at Mother and Fetuses Medical Center Hospital to evaluate the likelihood of chromosomal abnormalities and other genetic diseases in the growing fetus. The procedure combines a blood test with an ultrasound to gauge the thickness of the skin on the fetus's neck's back. Following the findings analysis, a risk assessment for specific chromosomal abnormalities like Down syndrome and other genetic diseases is provided.
Pregnant women and their healthcare professionals can benefit from first trimester screening because it is a non-invasive, safe technique. Also, it can aid in early problem detection during pregnancy, enabling therapy and intervention if necessary. Our staff at Mother and Fetuses Medical Center Hospital invites you to schedule a consultation if you are pregnant and thinking about first trimester screening. In order to guarantee the greatest outcome for you and your child, we are devoted to provide individualized and sensitive treatment.
Intrauterine Fetal Transfusion | Mothers and Fetuses Group
Intrauterine fetal transfusion is a specialized procedure that is performed on a developing fetus while still in the womb. At Mother and Fetuses Medical Center Hospital, we offer this procedure to treat certain fetal blood disorders that can cause anemia and other serious health problems. During the procedure, a needle is inserted through the mother's abdomen and into the umbilical cord of the fetus. Blood is then transfused from a compatible donor to the fetus, providing vital red blood cells and other nutrients necessary for healthy development.
Instances of Rh incompatibility, when the mother's blood type is incompatible with the fetus, or fetal anemia brought on by other blood abnormalities generally necessitate intrauterine fetal transfusion. The most recent tools and methods are used by our team of skilled medical professionals, including experts in fetal medicine, to carry out this surgery in a secure and efficient manner. To assist expectant moms in understanding their options and making knowledgeable decisions regarding their treatment, we also provide thorough prenatal care and genetic counseling. We invite you to contact Mother and Fetuses Medical Center Hospital to arrange a consultation if you or a loved one is dealing with a fetal blood problem. We are dedicated to provide individualized care with compassion to ensure the greatest outcome for you and your baby.
Triple Test: A Prenatal Screening For Chromosomal Abnormalities And Birth Defects
Dr. Deepak Goenka, M.D
Director, Institute of Human Reproduction
IVF Specialist
Pregnancy is an exciting time for expectant parents, but it is also a time of uncertainty and anxiety. To ease this uncertainty, many expectant mothers choose to undergo prenatal screening tests to check for any abnormalities in the fetus. One such test is the Triple Test. In this blog, we will take a closer look at the Triple Test and what it entails.
What is the Triple Test? When is it done?
The Triple Test is a prenatal screening test that is typically performed between the 15th and 20th weeks of pregnancy. The test is used to screen for certain chromosomal abnormalities and birth defects in the fetus. The Triple Test involves measuring three substances in the mother’s blood: alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG), and estriol (µE3).
Why is the Triple Test performed? Triple Test as a screening technique for Down Syndrome.
A positive Triple Test result means that the levels of one or more of these substances are higher or lower than normal, which can be a sign of a chromosomal abnormality or birth defect. It is important to note that a positive Triple Test does not diagnose a specific condition, but rather indicates the need for further testing to confirm a diagnosis.
What happens after a positive Triple Test result?
If you receive a positive Triple Test result, your healthcare provider will likely recommend further testing, such as an amniocentesis. The procedure involves taking a sample of the amniotic fluid to test for chromosomal abnormalities or genetic disorders. It is important to understand that the test is not without risks, and you should discuss the risks and benefits with your healthcare provider before deciding to have them.
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Read this to know all about first trimester screening and why you should get it done.
It's important to get regular health checks for your fetus so you know if it is healthy or at a higher risk of disease. When any risk surfaces, you will be able to make the best decision for yourself and your baby. Fetomat Foundation offers the best first trimester screening for pregnancy.