Prenatal Diagnostic Fetal Testing

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Pregnancy is a journey filled with hope, yet it naturally brings important questions about the well-being of your unborn child. While most babies are born healthy, understanding the genetic risks early is crucial for informed decision-making. Prenatal Diagnostic Fetal Testing in Pune plays a vital role in this process, offering parents a clear picture of their baby’s development. These tests are essential to detect chromosomal abnormalities, genetic conditions, and developmental concerns, allowing for timely medical interventions and better preparedness.

Dr. Deepti Mittal, a leading Fetal Medicine Specialist in Pune with over 12+ years of experience, offers comprehensive care in this specialized field. Unlike standard obstetric check-ups, her expertise focuses specifically on the unborn baby as a patient. Currently serving as a Consultant at Cloudnine Hospital (SB Road) and Motherhood Hospital (Kharadi), Dr. Deepti combines state-of-the-art scanning technology with compassionate counseling.

Prenatal diagnostic fetal testing in Pune performed by Dr. Deepti Mittal, Fetal Medicine Specialist, showing prenatal screening tests and genetic testing in pregnancy

Whether you require a routine prenatal screening test, detailed chromosome testing pregnancy services, or advanced genetic testing for pregnancy, expert guidance is non-negotiable. Dr. Deepti provides a full spectrum of care, from the initial prenatal genetic screening test to a confirmed genetic test on fetus (such as amniocentesis) if risks are detected. By choosing a specialist for your genetic screening test pregnancy, you ensure safe, precise, and supportive care, giving you the peace of mind to enjoy your pregnancy journey.

What Is Prenatal Diagnostic Fetal Testing?

Prenatal diagnostic testing refers to medical procedures performed during pregnancy to determine if the baby has a specific genetic or chromosomal condition.

It is important to distinguish between prenatal screening tests and diagnostic tests:

  • Screening Tests: These estimate the risk or probability of the baby having a condition (e.g., Double Marker, NIPT). They are non-invasive.
  • Diagnostic Tests: These provide a definitive answer (Yes or No). They usually involve analyzing cells from the fetus (e.g., Amniocentesis) to perform a detailed chromosome test in pregnancy.

Prenatal Diagnostic Fetal Testing Types:

Dr. Deepti Mittal offers a full range of prenatal testing methods tailored to your gestational age.

1. First Trimester Screening (11–13 Weeks)
  • Combined Test: This involves an Ultrasound (NT Scan) and a blood test (Double Marker). It screens for Down Syndrome, Edwards Syndrome, and Patau Syndrome.
  • NIPT (Non-Invasive Prenatal Testing): This is a highly advanced gene test pregnancy method. It analyzes cell-free fetal DNA found in the mother’s blood to detect abnormalities with 99% accuracy for Down Syndrome.
2. Second Trimester Screening (15–20 Weeks)
  • Quadruple Marker Test (Quad Test): A blood test used if the first-trimester screening was missed.
  • Genetic Sonogram (Level II Scan): A detailed ultrasound looking for “soft markers” or structural defects that suggest genetic issues.

Testing Process:

Prenatal diagnostic fetal testing involves several steps to ensure accuracy and safety:

  • Pre-Test Counseling: Dr. Deepti Mittal discusses the purpose, benefits, and potential risks of each test with parents. This session ensures they understand their options and feel confident about proceeding.
  • Procedure: Each test is performed with the utmost precision and care. Dr. Mittal uses advanced ultrasound guidance for invasive procedures like CVS and amniocentesis to minimize risks and ensure accuracy.
  • Post-Test Support: After the procedure, Dr. Mittal monitors the mother and fetus for any complications. She also schedules follow-ups to review test results and discuss next steps.

Benefits of Prenatal Diagnostic Fetal Testing:

  • Early Detection: Identifies potential issues early, enabling timely medical or surgical interventions if required.
  • Accurate Diagnosis: Provides detailed insights into genetic, chromosomal, and structural conditions.
  • Informed Decision-Making: Empowers parents with knowledge to prepare for specialized care or make crucial decisions about their baby’s health.
  • Customized Care Plans: Facilitates the development of a personalized pregnancy and delivery plan, especially for high-risk pregnancies.

Prenatal Diagnostic Screening Tests Explained

When a screening test pregnancy result is “High Risk,” Dr. Deepti Mittal recommends a confirmatory diagnostic procedure.

Chorionic Villus Sampling (CVS)
  • Timing: 11 to 14 weeks.
  • Procedure: A tiny sample of the placenta is taken.
  • Purpose: Early chromosome testing pregnancy diagnosis.
Amniocentesis
  • Timing: 16 weeks onwards.
  • Procedure: A small amount of amniotic fluid surrounding the baby is extracted using a fine needle under ultrasound guidance.
  • Purpose: This is the gold standard genetic test of fetus for detecting Down Syndrome, Thalassemia, and other infections.

Who Should Consider Prenatal Diagnostic Fetal Testing?

While prenatal screening tests are recommended for all pregnant women, diagnostic test in pregnancy is specifically advised for:

  • Advanced Maternal Age: Women over 35 years old.
  • High-Risk Screening Results: Abnormal Double Marker, Quad test, or NIPT results.
  • Abnormal Ultrasound Findings: If the antenatal USG shows structural defects or high Nuchal Translucency (NT).
  • Family History: Previous child with a genetic disorder or family history of conditions like Thalassemia or Sickle Cell Anemia.
  • Carrier Parents: If both parents are carriers of a specific gene mutation (detected via gene test for pregnancy).

When Is Prenatal Diagnostic Testing Done During Pregnancy?

Timing is critical for accurate results. Here is a typical timeline used by Dr. Deepti Mittal:

  • 10–13 Weeks: NIPT (blood test in pregnancy results usually take 1-2 weeks).
  • 11–13 Weeks: CVS (Chorionic Villus Sampling).
  • 11–13 Weeks: NT Scan + Double Marker (first trimester tests).
  • 16–22 Weeks: Amniocentesis (genetic test when pregnant).
  • 18–20 Weeks: Anomaly Scan (Detailed structural check).

What Abnormalities Can Prenatal Tests Detect?

Advanced genetic screening and testing during pregnancy can identify hundreds of conditions. The most common include:

1. Aneuploidy (Abnormal Chromosome Numbers):

  • Down Syndrome (Trisomy 21)
  • Edwards Syndrome (Trisomy 18)
  • Patau Syndrome (Trisomy 13)

2. Sex Chromosome Abnormalities: Turner Syndrome, Klinefelter Syndrome.
3. Single Gene Disorders: Thalassemia, Cystic Fibrosis, Spinal Muscular Atrophy (SMA).
4. Structural Defects: Spina Bifida and heart defects.

How Accurate Are Prenatal Diagnostic Fetal Tests?

  • Screening Tests (Double Marker/NIPT): These are probability tests. NIPT is over 99% accurate for Down Syndrome but is still considered a screen.
  • Diagnostic Tests (CVS/Amnio): These are diagnostic tests in pregnancy with an accuracy of over 99.9%. They provide a definitive diagnosis because they analyze the baby’s actual genetic material.

Risks and Safety of Prenatal Diagnostic Testing

Many mothers worry: Is a genetic test on fetus safe?

  • Non-Invasive Tests (NIPT, Ultrasounds): These are 100% safe for both mother and baby. There is zero risk of miscarriage.
  • Invasive Tests (Amnio/CVS): There is a very small risk of miscarriage (less than 0.5% to 1%) when performed by an expert.

Expertise Matters: Dr. Deepti Mittal is a qualified Fetal Medicine Consultant in Pune. Her expertise significantly minimizes procedural risks compared to general practitioners.

Counseling & Support After Prenatal Diagnostic Test Results

Receiving a high-risk result can be overwhelming. Genetic counseling is a vital part of Dr. Deepti’s service.

  • Pre-test Counseling: Explaining what the gene test in pregnancy looks for and its limitations.
  • Post-test Counseling: If a result is abnormal, Dr. Deepti explains the severity of the condition, long-term outlook, and management options with empathy and clarity.

Why Choose Dr. Deepti Mittal for Prenatal Diagnostic Fetal Testing in Pune?

When it comes to genetic testing in pregnant women, you need a specialist, not a generalist.

  • Specialized Qualification: Dr. Deepti Mittal is a Fellowship-trained Fetal Medicine Specialist, distinct from general OB-GYNs.
  • Experience: Over 12 years of handling complex high-risk pregnancies and performing delicate invasive procedures.
  • Advanced Technology: She utilizes high-end ultrasound machines (Voluson series) at Cloudnine (SB Road) and Motherhood (Kharadi) for precise aneuploidy screening.
  • Holistic Care: From the initial screening test pregnancy to the final diagnosis, she manages the entire journey personally.
  • Trusted by Mothers: Recognized for her gentle approach and ability to explain complex genetics test pregnancy concepts in simple words.

Cost of Prenatal Diagnostic Fetal Testing in Pune

The cost varies depending on the type of test required.

  • Screening tests (Double Marker, NIPT) are generally more affordable.
  • Diagnostic procedures (Amniocentesis, Microarray) involve lab culture costs and procedure fees.
  • Dr. Deepti ensures transparency in pricing. For specific genetic testing for pregnancy cost details, it is best to consult the clinic directly.

Book Prenatal Diagnostic Fetal Testing in Pune

Don’t leave your baby’s health to chance. If you have a family history of genetic disorders or need an advanced prenatal screening test, schedule an appointment with Dr. Deepti Mittal.

Whether you are in Kharadi, SB Road, Hadapsar, Magarpatta, Baner, Wakad, or anywhere in Pune, expert fetal care is accessible.

Consult Dr. Deepti Mittal Today:

Take the first step toward a reassured pregnancy. Book Your Appointment Now!

FAQS: Prenatal Diagnostic Fetal Testing in Pune

Amniocentesis is the most accurate genetic test on fetus (diagnostic), providing >99.9% accuracy. Among screening tests, NIPT is the most accurate (approx. 99% for Down Syndrome).

Blood tests (NIPT/Double Marker) are like a simple pinprick. Diagnostic tests like Amniocentesis feel similar to an injection or period cramp; Dr. Deepti uses local anesthesia to ensure minimal discomfort.

Ideally, visit Dr. Deepti Mittal by the 10th week of pregnancy to plan your first trimester tests (NT scan and Double Marker) effectively.

Double marker detects about 85-90% of Down Syndrome cases. NIPT detects over 99%. However, NIPT is more expensive than the Double Marker test.

Dr. Deepti Mittal is a highly recommended Fetal Medicine Specialist in Pune known for her expertise in prenatal genetics and invasive diagnostic procedures at Cloudnine and Motherhood Hospitals.