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Myotonic Dystrophy: Symptoms, Genetics, and Pregnancy Implications

Myotonic Dystrophy: Symptoms, Genetics, and Pregnancy Implications

Myotonic dystrophy is a genetic neuromuscular disorder characterized by progressive muscle weakness and difficulty relaxing muscles after contraction, known as myotonic. This inherited condition affects multiple systems in the body and has important implications for affected individuals and their families—especially women planning pregnancy or currently pregnant. Awareness and proper care are essential for managing this complex disorder.

Causes and Genetics of Myotonic Dystrophy

Myotonic dystrophy is caused by mutations in the DMPK gene (for type 1) or in the CNBP gene (for type 2), leading to abnormal muscle function.

  • It follows an autosomal dominant inheritance pattern, which means if one parent carries the mutation, there is a 50% chance of passing the condition to the child.
  • The severity and symptoms can vary widely even within the same family.
  • There are two main types:
    • Type 1 (DM1) – more common and typically more severe.
    • Type 2 (DM2) – generally milder but still impacts quality of life.

Symptoms of Myotonic Dystrophy

Symptoms can affect various parts of the body and usually develop gradually:

  • Muscle Weakness and Myotonic: Difficulty relaxing muscles after use, stiffness, and progressive weakening.
  • Early-Onset Cataracts: Clouding of the eye lens appearing earlier than usual.
  • Cardiac Conduction Defects: Irregular heart rhythms or arrhythmias that can require medical attention.
  • Respiratory Difficulties: Due to weakened respiratory muscles.
  • Cognitive and Learning Challenges: Some individuals may experience mild intellectual disabilities or learning difficulties.
  • Other Symptoms: Fatigue, swallowing difficulties, and hormonal imbalances.

Implications of Myotonic Dystrophy During Pregnancy

Pregnancy in women with myotonic dystrophy requires special attention because of the increased risk of complications:

  • Monitoring for Preterm Labour and Miscarriage: Women with DM have a higher risk of these issues.
  • Genetic Counselling: Essential for understanding the inheritance pattern and the likelihood of passing the disorder to the baby.
  • Prenatal Testing Options:
    • Chorionic Villus Sampling (CVS) between 10-13 weeks or
    • Amniocentesis between 15-20 weeks can detect whether the fetus has inherited the condition.
  • Fetal Monitoring: Regular ultrasounds and fetal assessments to ensure healthy development.

Management and Care for Myotonic Dystrophy

A multidisciplinary approach is crucial for managing myotonic dystrophy effectively:

  • Neurologists provide muscle and nerve care.
  • Cardiologists monitor and manage heart-related issues.
  • Obstetricians oversee pregnancy health and fetal monitoring.
  • Genetic Counsellors help families understand risks and make informed reproductive choices.
  • Symptomatic Treatments: There is no cure, but therapies exist to improve muscle strength, reduce myotonic, and manage heart conditions.
  • Regular Prenatal Check-ups: Close monitoring is necessary to detect and manage any pregnancy complications early.

Myotonic dystrophy is a complex inherited disorder that can significantly impact pregnancy and family planning. Early diagnosis, genetic counselling, and coordinated medical care are key to managing the condition and supporting affected families. Women with myotonic dystrophy should work closely with their healthcare team to ensure the best outcomes for themselves and their babies.

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Why Transvaginal Scan (TVS) Is Done in Early Pregnancy Over Abdominal Ultrasound (USG)

transvaginal scan.

Early pregnancy is a delicate and crucial period that requires accurate monitoring to ensure the health of both mother and baby. Ultrasound scans play an essential role in confirming pregnancy and assessing early fetal development. Among the different ultrasound methods, Transvaginal Scan (TVS) and Abdominal Ultrasound (USG) are commonly used. However, in the first trimester, TVS is often preferred. This article explores what TVS is, why it is done over abdominal USG in early pregnancy, and its advantages.

What is a Transvaginal Scan (TVS)?

A Transvaginal Scan (TVS) is an ultrasound technique where a small, specially designed probe is gently inserted into the vagina. This approach places the probe closer to the uterus, providing clearer and more detailed images of the early pregnancy structures such as the gestational sac, yolk sac, and fetal pole.

Unlike the abdominal ultrasound (USG), where the probe is moved over the abdomen, TVS bypasses the abdominal wall and bladder, which can obscure or reduce the clarity of early pregnancy images.

Advantages of TVS Over Abdominal Ultrasound in Early Pregnancy

TVS offers several critical advantages during the early weeks of pregnancy, typically up to 12 weeks gestation:

  • Earlier Pregnancy Detection:
    TVS can detect pregnancy as early as 4 to 5 weeks, identifying the gestational sac and fetal pole much earlier than abdominal USG, which usually performs better after 6 weeks.
  • Sharper, Clearer Images:
    Because the probe is closer to the uterus, TVS produces high-resolution images that allow for detailed visualization of early fetal structures, helping in accurate dating and viability assessment.
  • Better Fetal Heartbeat Detection:
    Fetal cardiac activity can be detected earlier and with greater accuracy via TVS, often as early as 5.5 to 6 weeks, which is critical for confirming a viable pregnancy.
  • Early Complication Assessment:
    TVS is the gold standard for diagnosing potential early pregnancy complications such as:

    • Ectopic pregnancy (implantation outside the uterus)
    • Threatened miscarriage
    • Subchorionic haemorrhage
  • Assessment of Uterine and Ovarian Health:
    It allows detailed examination of the uterus, cervix, and ovaries, helping identify fibroids, cysts, or other abnormalities that may affect pregnancy.

When is TVS Recommended?

Your doctor may advise a transvaginal scan in early pregnancy under the following circumstances:

  • Confirmation of Early Pregnancy: To verify pregnancy location and viability.
  • Vaginal Bleeding or Abdominal Pain: To assess risks such as miscarriage or ectopic pregnancy.
  • Inconclusive Abdominal Ultrasound Results: When abdominal USG does not provide clear information.
  • History of Previous Pregnancy Complications: To closely monitor pregnancy development.
  • High-Risk Pregnancies: To ensure early and precise fetal monitoring.

What to Expect During a TVS?

  • The procedure is generally safe and painless.
  • The probe is covered with a sterile sheath and lubricated before insertion.
  • It usually takes 10-20 minutes.
  • No special preparation is required, but a full bladder is generally not needed (unlike abdominal USG).

In early pregnancy, TVS is preferred over abdominal ultrasound due to its superior ability to detect pregnancy earlier, provide clearer images, and identify potential complications promptly. This early and accurate assessment enables better monitoring and management, ensuring the best possible care for mother and baby. If you experience any symptoms or require early pregnancy evaluation, consult your healthcare provider about the benefits of a transvaginal scan.

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Is It Important to Do a Fetal Echo in High-Risk Pregnancy?

Is It Important to Do a Fetal Echo in High-Risk Pregnancy?

Pregnancy is a time filled with anticipation and joy, but for some, it carries added concerns due to certain risk factors. One critical tool in managing these concerns is the fetal echocardiogram or fetal echo. This specialized ultrasound scan provides a detailed look at the baby’s heart before birth, offering invaluable insights, especially in high-risk pregnancies. But why is fetal echo so important, and when should it be done? Let’s explore this in detail.

What is a Fetal Echo?

A fetal echocardiogram is an advanced ultrasound examination focused specifically on the fetal heart. Unlike a routine ultrasound, which provides a general overview, a fetal echo captures detailed images of the heart’s anatomy and function. It assesses the size and shape of the heart chambers, valves, and the flow of blood through the heart, and the heart’s rhythm and rate. This detailed evaluation helps detect congenital heart defects (CHDs) — structural problems in the heart present from birth.

Why Is Fetal Echo Crucial in High-Risk Pregnancies?

Certain pregnancies carry a higher risk of fetal heart abnormalities due to maternal or familial factors. In such cases, fetal echocardiography becomes a vital diagnostic step. Here’s why:

  • Family History of Heart Defects: If one or both parents have a history of congenital heart disease or if a previous child had a CHD, the risk to the current fetus increases. Fetal echo allows early detection and timely planning.
  • Maternal Health Conditions: Diseases such as diabetes mellitus, lupus, phenylketonuria (PKU), or infections like rubella during pregnancy can increase the chance of fetal heart defects.
  • Abnormal Findings on Routine Ultrasound: Sometimes, during a regular anomaly scan, subtle signs may hint at a possible heart problem. A fetal echo helps confirm or rule out these suspicions.
  • Exposure to Teratogens: Use of certain medications, alcohol, drugs, or environmental toxins during pregnancy can adversely affect fetal heart development.
  • Multiple Pregnancies: Twins or higher-order multiples specially monochorionic pregnancies have a higher risk of heart defects, warranting a fetal echo.

Early identification of heart abnormalities allows doctors to:

  • Plan for specialized care during pregnancy
  • Counsel parents about the condition and expected outcomes
  • Decide the optimal time and mode of delivery to ensure immediate new-born care
  • Arrange for postnatal interventions, including surgery if needed

When Should a Fetal Echo Be Performed?

The ideal time for a fetal echocardiogram is typically between 18 and 24 weeks of gestation. By this stage, the fetal heart is developed enough to provide detailed images for accurate assessment. However, in some cases, especially where early concerns arise, the scan can be done earlier or repeated later.

What Does a Fetal Echo Involve?

  • The procedure is non-invasive and safe for both mother and baby.
  • It uses high-frequency sound waves to generate heart images.
  • Usually performed by a trained fetal cardiologist or sonographer.
  • May take 30-60 minutes, depending on fetal position and complexity.

Benefits of Fetal Echo in High-Risk Pregnancies

  • Early Detection of Heart Defects: Enables prompt medical decisions and reduces complications.
  • Better Parental Counselling: Families receive accurate information and psychological preparation.
  • Coordinated Multidisciplinary Care: Obstetricians, pediatric cardiologists, and neonatologists work together to optimize outcomes.
  • Improved Survival and Quality of Life: Early intervention can significantly improve prognosis for many congenital heart conditions.

Common Congenital Heart Defects Detected by Fetal Echo

  • Ventricular Septal Defect (VSD)
  • Hypoplastic Left Heart Syndrome (HLHS)
  • Tetralogy of Fallot
  • Transposition of the Great Arteries
  • Atrioventricular Septal Defect

Detecting these early guides management before and after birth.

For pregnancies with risk factors, undergoing a fetal echocardiogram is not just important; it is essential. This detailed heart scan provides clarity and reassurance, helping doctors prepare for the best possible care tailored to each baby’s needs. If you or your healthcare provider identify risk factors, consult a fetal cardiology specialist to schedule this vital scan. Early knowledge means better planning and better outcomes for both mother and child.

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Importance of Genetic Counselling in Pregnancy

Genetic Counselling

What is Genetic Counselling?

Genetic counselling is a specialized service provided to expectant parents to help them understand the risks of inherited genetic conditions during pregnancy. It involves meeting with a trained genetic counsellor who evaluates family and medical histories, discusses available genetic tests, and explains the implications of test results.

Who Should Consider Genetic Counselling?

Genetic counselling is especially recommended if:

  • There is a family history of genetic disorders like cystic fibrosis, thalassemia, or Down syndrome
  • The mother is over 35 years old, increasing the risk of chromosomal abnormalities
  • Prenatal screening tests indicate potential risks
  • The couple belongs to a population with a higher incidence of specific genetic diseases
  • Previous pregnancies were affected by genetic conditions

What Happens During Genetic Counselling?

During the counselling session, the genetic counsellor will:

  • Collect detailed family medical histories
  • Explain the types of genetic tests available, such as carrier screening or non-invasive prenatal testing (NIPT)
  • Discuss the benefits, limitations, and possible outcomes of testing
  • Help parents understand what the test results mean for their pregnancy and baby’s health
  • Provide emotional support and guidance for decision-making

Benefits of Genetic Counselling

  • Informed decision-making: Parents gain clarity about potential risks and testing options
  • Personalized care: Enables doctors to tailor prenatal care based on risk assessment
  • Early intervention: Identifies conditions that may require monitoring or treatment before or after birth
  • Emotional support: Helps families prepare for different outcomes and connect with resources

Is Genetic Counselling Right for Everyone?

While not mandatory for all pregnancies, genetic counselling is a valuable tool for those with increased risk factors. Even couples with no known family history may opt for counselling to gain peace of mind.

Genetic counselling empowers parents with knowledge and support to navigate pregnancy with confidence. If recommended by your healthcare provider, it can be a vital part of prenatal care to ensure the best outcomes for you and your baby.

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Pregnant with Monochorionic Twins? Expert Care for a Safe and Healthy Pregnancy

regnant with Monochorionic Twins

Carrying monochorionic twins is a rare and exciting experience, but it also comes with unique challenges that require specialized monitoring and care. Since identical twins share the same placenta, they are at a higher risk of certain pregnancy complications, making regular fetal monitoring essential. At the Institute of Fetal Medicine, Kolkata, we offer advanced prenatal screening and expert fetal care to ensure the best possible outcome for both mother and babies.

Understanding Monochorionic Twins

Monochorionic twins develop when a single fertilized egg splits into two embryos, resulting in genetically identical babies. Unlike fraternal twins, monochorionic twins share a placenta, which increases the risk of specific complications, including:

🔹 Twin-to-Twin Transfusion Syndrome (TTTS) – Unequal blood flow between twins due to shared placental circulation, requiring early detection.
🔹 Selective Intrauterine Growth Restriction (sIUGR) – One twin may receive fewer nutrients, leading to restricted growth.
🔹 Twin Anemia-Polycythemia Sequence (TAPS) – A rare condition where one twin becomes anemic while the other has an excess of red blood cells.
🔹 Cord Entanglement (in Monochorionic-Monoamniotic Twins) – Increased risk in twins sharing the same amniotic sac.

Why Regular Monitoring is Essential

Early detection of complications is key to managing risks and improving outcomes. Our fetal medicine specialists in Kolkata offer:

✔ First Trimester Screening – To assess risk factors and confirm chorionicity (whether twins share a placenta).
✔ Frequent Growth and Doppler Scans – To monitor fetal well-being and detect early signs of TTTS or sIUGR.
✔ Fetal Echocardiography – To assess heart development, as monochorionic twins have a higher risk of congenital heart defects.
✔ Expert Second Opinions & Genetic Counselling – Helping parents make informed decisions regarding their pregnancy.

Why Choose Us for Twin Pregnancy Care?

✔ Best fetal medicine doctor in Kolkata for expert twin pregnancy management.
✔ State-of-the-art fetal care clinic in Kolkata for high-risk pregnancy care.
✔ Advanced fetal medicine services in Kolkata to ensure the safest outcomes.
✔ Dedicated prenatal ultrasound clinic in Kolkata for frequent and specialized monitoring.

Book a Consultation with Our Fetal Medicine Experts

If you are expecting identical twins, don’t leave your pregnancy to chance. Get expert guidance and specialized care at our fetal diagnostics center in Kolkata to ensure a safe and healthy journey for you and your babies.

💙 Your Twins Deserve the Best Care! 💙

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What Does an Anomaly Scan Detect in Pregnancy?

What Does an Anomaly Scan Detect in Pregnancy

The Anomaly Scan, also known as the Level II Ultrasound, is a crucial mid-pregnancy screening performed between 18 to 22 weeks. This detailed scan helps assess the baby’s growth, development, and overall well-being, ensuring early detection of any abnormalities.

At our fetal medicine center in Kolkata, we offer advanced anomaly scans to provide expectant parents with comprehensive insights into their baby’s health.

1️⃣ Fetal Anatomy Examination

The anomaly scan provides a detailed view of the baby’s organs and structures, including:
✔ Brain and skull – Detects neural tube defects like spina bifida
✔ Heart – Identifies congenital heart defects (fetal echocardiography in Kolkata may be recommended for further evaluation)
✔ Face – Checks for cleft lip and palate
✔ Limbs – Assesses proper development of arms, legs, fingers, and toes
✔ Spine – Screens for spinal deformities

👉 This scan is crucial for ensuring your baby’s structural development is progressing normally.

2️⃣ Detection of Structural Abnormalities

The anomaly scan in Kolkata is performed by fetal medicine specialists to identify:
🔹 Brain abnormalities (Hydrocephalus, Anencephaly)
🔹 Heart defects (Congenital Heart Disease)
🔹 Kidney issues (Multicystic Dysplastic Kidney, Hydronephrosis)
🔹 Limb abnormalities (Clubfoot, Skeletal Dysplasia)
🔹 Facial defects (Cleft Lip, Micrognathia)

Early detection allows for better medical planning and management of high-risk pregnancies.

3️⃣ Monitoring Fetal Growth

The anomaly scan also checks if the baby is growing as expected. Key parameters measured include:
✔ Head circumference (HC)
✔ Abdominal circumference (AC)
✔ Femur length (FL)

👉 If any growth concerns arise, fetal growth monitoring in Kolkata is recommended for continued assessment.

4️⃣ Assessing Amniotic Fluid Levels

Amniotic fluid is vital for fetal movement and lung development. The anomaly scan helps detect:
🔹 Low amniotic fluid (Oligohydramnios) – Can indicate placental insufficiency or fetal kidney issues
🔹 Excess amniotic fluid (Polyhydramnios) – May be linked to diabetes, fetal swallowing issues, or chromosomal abnormalities

Abnormal fluid levels may require additional screening at our fetal medicine clinic in Kolkata.

Why Get an Anomaly Scan at Our Fetal Medicine Center?

✔ Best fetal medicine doctor in Kolkata for expert evaluation
✔ Comprehensive prenatal diagnostics in Kolkata
✔ Advanced fetal medicine services in Kolkata for high-risk pregnancies
✔ Maternal-fetal care in Kolkata for ongoing monitoring

Book Your Anomaly Scan Today!

Ensure your baby’s health and development with an anomaly scan at our fetal care clinic in Kolkata. Early screening leads to better pregnancy outcomes!

💙 Your Baby’s Health is Our Priority! 💙

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Worried About Your First Trimester Screening Results? Don’t Stress

Worried About Your First Trimester Screening Results

The first trimester screening is a crucial test that helps assess the risk of chromosomal abnormalities such as Down Syndrome, Trisomy 18, and Trisomy 13. While receiving unexpected results can be overwhelming, it’s important to remember that screening tests are not diagnostic—they only indicate risk levels. If you are feeling anxious about your first trimester screening results, seeking a second opinion from a fetal medicine specialist can provide clarity and reassurance.

Why Get a Second Opinion?

🔹 Confirm Accuracy – Sometimes, factors like maternal age, incorrect gestational age, or certain health conditions can influence screening results.
🔹 Comprehensive Evaluation – An expert fetal medicine doctor can recommend further tests such as NIPT (Non-Invasive Prenatal Testing) or diagnostic procedures like CVS (Chorionic Villus Sampling) or Amniocentesis for confirmation.
🔹 Personalized Counselling – Get a detailed explanation of your results, risks, and next steps with genetic counselling in Kolkata.

Advanced Diagnostic Options at Our Fetal Medicine Center

✔ NIPT (Non-Invasive Prenatal Testing) – A highly accurate blood test to screen for chromosomal abnormalities.
✔ Fetal Echocardiography – A specialized scan to check for congenital heart defects.
✔ Detailed Ultrasounds & Anomaly Scan – Helps detect structural abnormalities early.
✔ Genetic Counselling – Expert guidance to help you make informed decisions.

At our fetal medicine clinic in Kolkata, we provide comprehensive prenatal diagnostics to ensure the best possible care for you and your baby.

Why Choose Us for a Second Opinion?

✔ Best fetal medicine doctor in Kolkata with expertise in high-risk pregnancies.
✔ Advanced fetal medicine services in Kolkata for precise and reliable screenings.
✔ A dedicated fetal diagnostics center in Kolkata for in-depth evaluation.
✔ Expert maternal-fetal care in Kolkata to guide you at every step.

Book Your Second Opinion Consultation Today!

Don’t let uncertainty and stress take over—get the right advice from experts at our fetal care clinic in Kolkata. A second opinion can bring clarity and peace of mind!

💙 Your Baby’s Health is Our Priority! 💙

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Essential Pregnancy Scans You Should Take for a Healthy Baby

Essential Pregnancy Scans You Should Take for a Healthy Baby

Prenatal ultrasounds play a vital role in monitoring fetal development and maternal health throughout pregnancy. These scans help detect abnormalities, assess growth, and ensure timely medical intervention if needed. Here are three essential pregnancy scans every expectant mother should undergo:

1️⃣ NT & NB Scan (Nuchal Translucency & Nasal Bone Scan) – First Trimester

When? 11 to 14 weeks of pregnancy
Why? This scan is part of first-trimester screening to detect the risk of chromosomal abnormalities like Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), and Patau Syndrome (Trisomy 13).

🔹 NT (Nuchal Translucency) Scan – Measures the fluid at the back of the baby’s neck.
🔹 NB (Nasal Bone) Scan – Checks if the nasal bone is properly formed, as its absence can indicate genetic concerns.

👉 This scan is usually accompanied by pre-eclampsia screening and a maternal blood test for better accuracy.

✅ Performed at our prenatal ultrasound clinic in Kolkata under the guidance of expert fetal medicine specialists.

2️⃣ Anomaly Scan – Second Trimester

When? 18 to 22 weeks of pregnancy
Why? Also known as the Level II ultrasound, this detailed scan examines:
✔ Baby’s organs, brain, spine, and heart
✔ Facial features and limbs
✔ Placental position and amniotic fluid levels

👉 The anomaly scan in Kolkata is crucial for detecting structural abnormalities and guiding high-risk pregnancy care.

✅ If necessary, additional tests like fetal echocardiography in Kolkata may be recommended for heart-related concerns.

3️⃣ Growth Scan & Doppler Study – Third Trimester

When? 28 to 40 weeks of pregnancy
Why? These scans monitor:
✔ Fetal growth & weight
✔ Placental health and blood flow
✔ Oxygen and nutrient supply to the baby

🔹 Doppler Ultrasound measures the blood flow in the umbilical cord, brain, and heart, ensuring the baby is getting adequate nutrients and oxygen.
🔹 Helps assess conditions like fetal growth restriction (FGR) and guides delivery planning.

✅ Available at our fetal diagnostics center in Kolkata, ensuring best fetal care in Kolkata for both mother and baby.

Why Choose Our Fetal Medicine Center?

✔ Best fetal medicine doctor in Kolkata for expert guidance
✔ Advanced fetal medicine services in Kolkata for high-risk pregnancies
✔ Maternal-fetal care in Kolkata for comprehensive support
✔ Genetic counselling in Kolkata for informed decision-making

Book Your Pregnancy Scans Today!

Ensure the best care for you and your baby with essential pregnancy scans at our fetal care clinic in Kolkata. Early detection leads to better outcomes!

💙 Your Baby’s Health Starts Here! 💙

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Pre-eclampsia Screening: Early Detection for a Healthier Pregnancy

Pre-eclampsia Screening Early Detection for a Healthier Pregnancy

Pre-eclampsia is a pregnancy-related condition characterized by high blood pressure and protein in the urine, affecting 5 to 8% of pregnancies. It can lead to complications for both the mother and baby if left undiagnosed. However, early screening in the first trimester—done at the time of the Nuchal Translucency (NT) scan—can help identify women at risk and allow for timely medical intervention.

At our fetal medicine center in Kolkata, we offer advanced prenatal screening for pre-eclampsia to ensure optimal maternal and fetal health.

What is Pre-eclampsia?

Pre-eclampsia typically develops after 20 weeks of pregnancy and can cause:
✔ High blood pressure (hypertension)
✔ Protein in the urine (proteinuria)
✔ Swelling in the hands, face, and legs
✔ Severe headaches and vision disturbances
✔ Complications affecting the liver, kidneys, and placenta

First Trimester Pre-eclampsia Screening

Pre-eclampsia screening is done between 11 to 14 weeks of pregnancy as part of the NT scan and first trimester combined screening at our prenatal ultrasound clinic in Kolkata. This screening assesses:

  • Maternal risk factors (age, weight, medical history)
  • Blood pressure measurements
  • Uterine artery Doppler scan (to check blood flow to the placenta)
  • Placental growth factor (PlGF) and PAPP-A blood tests

Why is Early Screening Important?

✅ Early Risk Identification – Helps predict the likelihood of developing pre-eclampsia.
✅ Timely Preventive Measures – Low-dose aspirin and lifestyle adjustments can reduce risks.
✅ Better Pregnancy Monitoring – Women identified as high-risk receive specialized maternal-fetal care in Kolkata.
✅ Prevention of Severe Complications – Reduces risks of preterm birth, fetal growth restriction, and organ complications.

Who Should Get Screened?

Screening is especially recommended for women with:

  • First pregnancy
  • History of pre-eclampsia in previous pregnancies
  • High blood pressure, diabetes, or kidney disease
  • Obesity or advanced maternal age
  • Multiple pregnancies (twins or more)

Comprehensive Fetal & Maternal Care in Kolkata

Our fetal medicine specialists in Kolkata provide high-risk pregnancy care through advanced fetal medicine services like:
🔹 Anomaly scan in Kolkata for fetal health assessment
🔹 Fetal echocardiography in Kolkata to detect heart defects
🔹 Fetal growth monitoring for at-risk pregnancies
🔹 Genetic counselling in Kolkata for personalized guidance

Book Your Pre-eclampsia Screening Today!

Early detection can make all the difference! Visit our fetal care clinic in Kolkata for pregnancy health screening and expert evaluation by the best fetal medicine doctor in Kolkata.

Your Health & Your Baby’s Well-Being Matter! 💙

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Understanding Down Syndrome: Early Diagnosis & Prenatal Care

Understanding Down Syndrome

Down Syndrome is a genetic condition caused by an extra copy of chromosome 21. It affects physical growth, cognitive development, and intellectual abilities, often presenting with distinct facial features. While Down Syndrome cannot be prevented, early diagnosis and proper medical support can help individuals lead fulfilling lives. At our fetal medicine center in Kolkata, we provide comprehensive prenatal diagnostics to ensure timely detection and informed decision-making for expecting parents.

What Causes Down Syndrome?

Down Syndrome occurs due to a genetic anomaly known as trisomy 21, where an individual has three copies of chromosome 21 instead of the usual two. This additional genetic material affects development in various ways. The exact cause of this chromosomal abnormality remains unknown, but advanced maternal age is a significant risk factor.

How is Down Syndrome Diagnosed?

1. Prenatal Screening Tests

These tests assess the risk of Down Syndrome in a fetus. Common screening methods available at our prenatal ultrasound clinic in Kolkata include:

  • First-trimester combined screening: Blood test + nuchal translucency ultrasound
  • Non-invasive prenatal testing (NIPT): A highly accurate blood test analyzing fetal DNA

2. Diagnostic Tests for Confirmation

If a screening test indicates a high risk, diagnostic tests are performed at our fetal diagnostics center in Kolkata:

  • Chorionic Villus Sampling (CVS) (10–13 weeks)
  • Amniocentesis (15–20 weeks)

Role of Fetal Ultrasound in Down Syndrome Detection

Advanced imaging techniques like the anomaly scan in Kolkata and fetal echocardiography in Kolkata help identify physical markers associated with Down Syndrome, such as heart defects, short femur length, and increased nuchal translucency.

Why Early Diagnosis Matters

Early detection at a fetal medicine clinic in Kolkata enables:
✔ Informed decision-making for parents
✔ Early intervention plans for better health outcomes
✔ Specialized care for high-risk pregnancies

Expert Care at the Best Fetal Medicine Center in Kolkata

At the Institute of Fetal Medicine, Kolkata, our team of fetal medicine specialists in Kolkata provides expert genetic counselling in Kolkata to help parents understand their baby’s health. With advanced fetal medicine services in Kolkata, we ensure accurate diagnosis, compassionate guidance, and the best support for expecting families.

Comprehensive Fetal Care in Kolkata

If you are expecting and want to ensure the best fetal care in Kolkata, visit our maternal-fetal care center in Kolkata for advanced prenatal screening and fetal growth monitoring.

Book an Appointment Today!

For accurate diagnosis and expert guidance from the best fetal medicine doctor in Kolkata, schedule a consultation at our fetal care clinic in Kolkata. Your baby’s health is our priority!

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