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Advance Fetal Medicine Course with Genetics and Intervention (First Trimester)

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Instructor: Multiple Renowned Faculties

Language: English

Validity Period: 180 days

Max Viewing Hours: 90 Hours

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Time

Topic

Faculty

1

30min

Pregnancy Dating 30 min

Dr Jiten Kumar

2

1 hr

Ectopic pregnancy (Adnexal and Non Adnexal) 60 min

Dr Jiten Kumar

3

10-11 am

Prenatal Diagnosis: Chorionic Villus Sampling (CVS) and  Amniocentesis (60 min)

Dr Alok Varshney

4

11-12 noon

Early Pregnancy; Sono embryology : Normal and Abnormal (Early embryonic development to

pregnancy failure); Early Preg Failure : Diagnostic criteria and prognosticating factors - 60

min

Dr Shilpa Satarkar

5

12-1 pm

ISUOG & AIUM:  First Trimester Scan Guidelines / 11-14weeks Anomaly scan : Indications

and check points (60 min)

Dr Alok Varshney

 

1-2 pm

11-14 week Aneuploidy Screening (abnormal NT/NB/IT/DV/TR) (60 min)

Dr Jiten Kumar

       
 

3-4 pm

First Trimester Neurosonogram - (60 min)

Dr Alok Varshney

6

4-5 pm

First Trimester Evaluation of Fetal Heart (60 min)

Dr Shilpa Satarkar

 

7

5-5.40 pm

First Trimester Evaluation of Fetal spine 30 min

Dr Alok Varshney

DAY 2

     
       

1

8.30-9.30 am

First Trimester Evaluation of Fetal Face (60 min)

Dr Alok Varshney

2

9.30-10.30 am

Genetics in fetal medicine – Dual Quadruple Markers, NIPT, karyotype, FISH, microarray, Sanger sequencing, next-generation

sequencing (60 min)

Dr Alok Varshney

3

10.30-11.30 am

Understanding Aneuploidy Risk Assessment from an Imaging Perspective (60 min)

Dr Jiten Kumar

4

11.30-12.30 pm

Caeserian Scar Pregnancies and Placenta Accreta Spectrum PAS (60 min )

Dr Shilpa Satarkar

5

12.30-1.30 pm

First Trimester anomalies other than CVS and CNS (30 or 60 min )

Dr Shilpa Satarkar

 

1.30-2.30 pm

LUNCH

 

6

2.30-3.30 pm

First Trimester Anterior Abdominal Wall Defects ( 60 min)

Dr Shilpa Satarkar

7

3.30-4.30

 pm

Ultrasound Evaluation of Multiple Pregnancies in first trimester and Risk Assessment

(60 min)

Dr Jiten Kumar

8

4.30-5.30 pm 

First Trimester Screening for PE and FGR (60 min)

Dr Shilpa Satarkar

 

 


 

 

Disclaimer: This course is for skill enhancment only. Not valid for PCPNDT registration

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1.Pregnancy Dating


1. The Significance of Precise Gestational Dating
•    How first-trimester dating influences fetal growth patterns.
•    Common mistakes in misclassifying growth restrictions due to incorrect dating.
    The effects of inaccurate gestational age estimation on clinical choices.
2. First Trimester Dating: The Best Approach
•    Crown-Rump Length (CRL) – The Most Reliable Method
o    Reasons why CRL outshines Mean Gestational Sac Diameter (MSD).
o    Ideal gestational age estimation occurs between 7-10 weeks (with ±5-7 days accuracy).
o    Frequent CRL measurement mistakes and tips for avoiding them.

•    When Should You Reassign Gestational Age in the First Trimester?
o    Guidelines from ACOG/AIUM/SMFM regarding gestational age reassignment.
o    Gestational Age Cutoff Chart (when to confirm or reassign dates).

3. Second Trimester Dating & Growth Monitoring
    Why Second Trimester Dating Isn’t as Reliable?
o    Increased variability in fetal growth.
o    Key biometric parameters: Head Circumference (HC) & Corrected Biparietal Diameter (BPD) as the most dependable indicators.
o    BPD errors caused by fetal head compression in breech positions.

•    How to Avoid Gestational Age Reassignment in the Second Trimester?
o    When to look for fetal growth restrictions (FGR) versus genuine dating errors.
o    OFD/BPD ratio for spotting unusual head shapes.
o    Utilizing corrected BPD.

4. Third Trimester Dating: The Least Trustworthy Method
•    Reasons third-trimester gestational age estimation can be unreliable.
o    Estimation errors may reach up to 30 days.
o    Risks of incorrectly redating a fetus with growth restrictions.

•    When is redating in the Third Trimester Justified?
o    Only when discrepancies exceed 21 days (according to ACOG guidelines).
o    The emphasis should shift to monitoring growth rather than adjusting gestational age.

5. Misclassification of Fetal Growth Restriction (FGR)
•    Iatrogenic FGR – A Mistake That Can Be Prevented
o    How incorrect dating may lead to misclassifying a healthy fetus as growth-restricted.
o    Case Study: A fetus wrongly classified as FGR due to inaccurate dating.
o    Adjusting the estimated due date (EDD) to prevent unnecessary interventions.

6. Suboptimally Dated Pregnancies
Definition: Any pregnancy lacking a confirmed first-trimester ultrasound before 22 weeks.
•    Clinical Management:
o    Avoid making elective delivery decisions based on estimated gestation.
o    Requires regular growth scans every 3-4 weeks.
o    Higher chances of misdiagnosing fetal size issues.

7. Special Considerations: Dating Twin Pregnancies
•    Chorionicity & Its Effect on Dating:
o    Differences between DCDA (Dizygotic Twins) and MCDA (Monozygotic Twins).
o    The timing of embryo splitting plays a role in determining chorionicity.

•    Which Twin’s CRL Should You Use for Dating?
o    Always opt for the larger CRL to prevent misclassifying FGR in one twin.
8. Assisted Reproductive Technology (ART) Pregnancy Dating
•    IVF Dating Is More Accurate Than Using LMP
o    For fresh embryo transfers, the transfer date equals the Date of Conception (DOC).
o    For frozen embryo transfers (FET), adjust the DOC by considering the embryo’s developmental stage.
o    Correcting gestational age for Day 3, Day 5, or Day 6 blastocyst transfers.

•    Essential Documentation for IVF Pregnancies
o    Always record the ART conception date instead of LMP.
o    Ensure proper dating adjustments using ultrasound machine settings.

9. Learning Through Cases & Clinical Implications
o    Real-world clinical examples showing errors in fetal dating.
o    The impact of incorrect dating on fetal weight classification and FGR diagnosis.
o    How to accurately adjust gestational dating in ART and twin pregnancies.

Key Takeaways from the Lecture
First-trimester CRL remains the gold standard for dating—keep it consistent.
Avoid redating in the second and third trimesters unless there are significant discrepancies.
Use corrected BPD for breech pregnancies and twin situations.
For ART pregnancies, always base gestational age on the embryo transfer date.
Suboptimally dated pregnancies need regular scans, not adjustments in gestational age.
Inaccurate dating can result in iatrogenic FGR—ensure a precise first-trimester assessment to prevent this.

 

             2. ECTOPIC PREGNANCY

•    Getting to Know Ectopic Pregnancy  
o    What it is and how we classify it  
o    Rising numbers, especially with ART  
o    Factors that increase risk and hurdles in diagnosis  

•    Updates on Standardized Terminology (ESHRE 2024)  
o    Terms we’re no longer using: Cornual, Angular, Chronic Ectopic, Fimbrial, Tubal Miscarriage  
o    New terms introduced: Normally Sited Pregnancy (NSP), Residual Ectopic Pregnancy (REP)  
o    Different Types of Ectopic Pregnancy  

    Extrauterine Ectopic Pregnancy:  
•    Tubal Ectopics:  
o    Interstitial Ectopic – High chance of rupture; identified through the Interstitial Line Sign  
o    Isthmic Ectopic – Early rupture risk because of a narrow lumen  
o    oAmpullary Ectopic – The most common type (around 70%)  
o    Ovarian Ectopic – Detected using the Bagel Sign  
o    Abdominal Ectopic – Rare but poses significant risks  

    Uterine Ectopic Pregnancy:  
o    Cesarean Scar Pregnancy (CSP) – Associated with placenta accreta spectrum (PAS)  
o    Cervical Ectopic Pregnancy – Recognized through Doppler vascularity & Sliding Sign  
o    Intramural Pregnancy – Located within the myometrium, resembling a fibroid  

    Heterotopic Pregnancy (Related to ART)  
o    Having both intrauterine and ectopic pregnancies at the same time  
o    Increased risk for IVF patients → Always take a close look at the adnexa  

•    Pregnancy of Unknown Location (PUL)  
o    93% continue to develop into normal pregnancies  
o    Only 7% turn out to be ectopic → Needs monitoring  
o    Be cautious with early methotrexate treatment  

    Sonographic Signs of Ectopic Pregnancy  

    Important diagnostic signs discussed:  
o    Interstitial Line Sign – Indicates interstitial ectopic pregnancy  
o    Bagel Sign – Suggests ovarian ectopic pregnancy  
o    Tubal Ring Sign – Observed in tubal ectopic pregnancies  
o    Ring of Fire on Doppler – Shows increased trophoblastic blood flow  
o    Sliding Sign – Helps distinguish cervical ectopic from a potential abortion  
o    Claw Sign – Differentiates between corpus luteum and extraovarian ectopic   
o    Minimal Residual Myometrium Thickness – Crucial for Cesarean Scar Pregnancy  

    ESHRE 2024 Guidelines on Terminology & Classification  
•    Discarding terms like Cornual, Fimbrial, and Angular pregnancies  
•    New terminology approach:
 
o    NSP (Normally Sited Pregnancy)  
o    Extrauterine Ectopic  
o    Residual Ectopic Pregnancy (previously known as chronic ectopic)  

    Approaches to Management  
•    Step-by-step method for diagnosing and treating ectopic pregnancy: 
o    Early detection with TVS + Doppler  
o    Importance of tracking β-hCG levels  
o    Choosing between methotrexate and surgical options  
o    Managing CSP, Heterotopic, and Interstitial Ectopics

    Learning Through Cases & Interactive Q&A  
o    Real-life ultrasound examples  
o    Guided analysis of imaging results  
Common diagnostic challenges and tips to overcome them

 3. Prenatal Diagnosis: Chorionic Villus Sampling (CVS) and  Amniocentesis


1. Getting to Know Prenatal Diagnosis  
o    The significance of prenatal screening and diagnostic methods  
o    Understanding Invasive vs. Non-Invasive Prenatal Testing (NIPT, CVS, Amniocentesis, Cordocentesis)  
o    Why and when to opt for invasive testing  

2. Exploring Invasive Prenatal Testing – Techniques & Reasons  
•    Chorionic Villus Sampling (CVS)  
o    Comparing Transabdominal and Transcervical approaches  
o    Steps involved in the procedure and best practices  
o    Benefits of early genetic diagnosis  

•    Amniocentesis  
o    When is the best time and what are the procedural guidelines?  
o    Techniques for collecting samples and necessary precautions  
o    Common reasons for testing and genetic strategies  

•    Cordocentesis (PUBS – Percutaneous Umbilical Blood Sampling)  
o    Reasons for fetal blood sampling  
o    Potential risks and limitations  

3. Diagnosing Genetic & Chromosomal Abnormalities Before Birth  
•    Common Chromosomal Disorders & Ultrasound Markers  
o    Trisomy 21 (Down Syndrome) – Key markers like nuchal translucency, absent nasal bone, short femur/humerus
o    Trisomy 18 (Edwards Syndrome) – Indicators such as strawberry skull, clenched hands, cardiac defects  
o    Trisomy 13 (Patau Syndrome) – Signs like holoprosencephaly, polydactyly, and facial anomalies  
o    Turner Syndrome (45, X0) – Features including cystic hygroma and coarctation of the aorta  
o    Confined Placental Mosaicism (CPM) – When to confirm with amniocentesis  

4. Identifying Structural Abnormalities in Prenatal Scans
•    Neural Tube Defects (NTDs) – Such as Spina Bifida, Anencephaly, and Encephalocele
•    Congenital Diaphragmatic Hernia (CDH) – Interventions like FETO  
•    Congenital Heart Defects – Conditions like Tetralogy of Fallot and Hypoplastic Left Heart Syndrome  
•    Gastrointestinal Issues – Including Duodenal Atresia, Omphalocele vs. Gastroschisis
•    HydropsFetalis and Fetal Infections (TORCH panel)  

5. Special Points to Consider in Prenatal Diagnosis  
•    Twin Pregnancies – Considerations for CVS & Amniocentesis  
•    Prenatal Diagnosis in Cases of Maternal Infections (HIV, HBV, HCV)  
•    Understanding Rhesus Status & Administering Anti-D Immunoglobulin  
•    Managing Complications & Risks in Invasive Procedures

 4. Early Pregnancy; Sonoembryology : Normal and Abnormal and Early Preg Failure : Diagnostic criteria and prognosticating factors

1. Getting Started with Early Pregnancy Evaluation
•    The significance of transvaginal ultrasound (TVS) in the early stages of pregnancy.
•    Essential diagnostic measurements to consider (MSD, CRL, Yolk Sac).
•    How serial beta-hCG testing helps assess the viability of the pregnancy.

2. Understanding Early Pregnancy Loss and Diagnostic Guidelines
•    Anembryonic Pregnancy (Blighted Ovum)
o    When MSD is 25 mm or more but there's no visible fetal pole.
• Embryonic Demise (Missed Miscarriage)
o    When CRL is 7 mm or greater without any cardiac activity.
• Subchorionic Hematoma (SCH) and Its Effect on Pregnancy Viability
o    How the size of the hematoma can influence pregnancy outcomes.
3. Abnormal Blood Flow in Early Pregnancy
•    Enhanced Myometrial Vascularity (EMV) versus Arteriovenous Malformation (AVM)
o    The differences in Doppler signals, underlying causes, and treatment approaches.
o    Gutenberg's classification of retained products of conception (RPOC) according to vascular characteristics.
o    A step-by-step management plan for EMV (expectant care, surgery, or interventional options).
o    Potential risks and complications associated with uterine artery embolization (UAE).

4. Gestational Trophoblastic Disease (GTD) and Hydatidiform Moles
•    Comparing Complete and Partial Molar Pregnancies
o    Genetic distinctions (46, XY versus 69, XXY).
o    Ultrasound findings (Snowstorm appearance compared to Swiss cheese pattern).
o    The risk of developing Gestational Trophoblastic Neoplasia (GTN).

•    Monitoring and Managing GTD
o    The crucial role of beta-hCG tracking.
o    How to distinguish it from persistent trophoblastic disease.

5. First Trimester Scan Guidelines (11-14 Weeks Anomaly Scan)
•    Screening for Aneuploidy  
o    Evaluating NT, nasal bone, ductusvenosus flow, and tricuspid regurgitation  
o    Identifying Trisomy 21, Trisomy 18, Trisomy 13, and Monosomy X  
o    Different screening guidelines for single and twin pregnancies  

•    Fetal Structural Issues  
o    Neural tube defects: Anencephaly, spina bifida, iniencephaly
o    Distinguishing between Omphalocele and Gastroschisis
o    Congenital diaphragmatic hernia (CDH)  
o    Skeletal conditions: Club hand, polydactyly, and caudal regression syndrome  

•    Complications in Twin Pregnancies  
o    Determining chorionicity: Lambda vs. T-sign  
o    Predicting Twin-to-Twin Transfusion Syndrome (TTTS)  
o    Understanding Twin Reversed Arterial Perfusion (TRAP) sequence  

•    Abnormalities of the Placenta and Uterus  
o    Vasa Previa – Early detection via cord insertion mapping  
o    Placenta Accreta Spectrum (PAS) – Sonographic indicators in high-risk cases  

•    Cardiac Concerns in the First Trimester  
o    Tetralogy of Fallot (TOF) – Features like overriding aorta and narrowing of the pulmonary artery  
o    Hypoplastic Left Heart Syndrome (HLHS) – Notable signs include a single AV stripe and reversed aortic flow  

•    Predicting Preterm Labor
o    Assessing cervical length and utilizing new biochemical markers  
•    Tips for NT Scan & Screening Accuracy  
o    Best practices for imaging, measurement techniques, and diagnostic protocols  
o    Learning from cases of misdiagnosed NT scans and their impact on clinical outcome


 

6. 11–14 Week Aneuploidy Screening

•    Basics of Aneuploidy Screening:  
o    What first-trimester screening is and why it matters  
o    The significance of detecting Trisomy 21 (Down Syndrome)  
o    Understanding screening methods: Balancing risk assessment with diagnostic accuracy  

•    Chromosomal Abnormalities & Ultrasound Indicators:  
o    Trisomy 21 (Down Syndrome) – NT, missing nasal bone, reversed ductusvenosus, tricuspid regurgitation  
o    Trisomy 18 (Edwards Syndrome) – Omphalocele, clenched hands, heart defects  
o    Trisomy 13 (Patau Syndrome) – Holoprosencephaly, facial clefts, extra fingers  
o    Turner Syndrome (45X0) – Cystic hygroma, hydropsfetalis, heart issues  
o    Triploidy (69,XXX / XXY / XYY) – Enlarged NT, molar placenta, intrauterine growth restriction  

•    Important Ultrasound Indicators in Aneuploidy Screening:  
o    Nuchal Translucency (NT) Measurement: Standard methods, common mistakes, and clinical importance  
o    Nasal Bone (NB) Evaluation: The role of absent or underdeveloped NB in identifying aneuploidy  
o    DuctusVenosus (DV) Doppler: Reversed A-wave and its link to chromosomal disorders  
o    Tricuspid Regurgitation (TR) Doppler: Early signs of heart issues and congenital heart disease predictions  
o    Intracranial Translucency (IT) & Open Spina Bifida: Indicators for neural tube defects  

•    Identifying Congenital Heart Disease (CHD) in the First Trimester:  
o    Atrioventricular Septal Defect (AVSD) – Frequently seen in Trisomy 21  
o    Hypoplastic Left Heart Syndrome (HLHS) – Small left ventricle condition  
o    TruncusArteriosus – A single great vessel anomaly  
o    Aberrant Right Subclavian Artery (ARSA) – A marker indicating aneuploidy  

•    Neural Tube Defects (NTDs) & Posterior Fossa Irregularities:  
o    Open Spina Bifida – Recognizable by the ‘Crash sign’ & IT disappearance  
o    Dandy-Walker Malformation – Enlarged IT & cyst in the posterior fossa  
o    Occipital Encephalocele – Differentiating from open NTDs  

•    Soft Markers & Doppler Assessments:  
o    Importance of preeclampsia screening and uterine artery Doppler  
o    New markers emerging: Ophthalmic artery Doppler  
•    FMF Certification & Image Evaluation Guidelines:  
o    Criteria for submitting Nasal Bone, DV, and TR data  
o    Common mistakes that lead to rejection  
o    Technical specifications for achieving successful certification


       7 First Trimester Neurosonogram

•    Basics of Aneuploidy Screening:
o    What first-trimester screening is and why it matters
o    The significance of detecting Trisomy 21 (Down Syndrome)
o    Screening concepts: Balancing risk assessment with diagnostic assurance

•    Chromosomal Abnormalities & Ultrasound Indicators:
o    Trisomy 21 (Down Syndrome) – Key markers include NT, absent nasal bone, reversed ductusvenosus flow, and tricuspid regurgitation
o    Trisomy 18 (Edwards Syndrome) – Notable signs are omphalocele, clenched hands, and heart defects
o    Trisomy 13 (Patau Syndrome) – Indicators like holoprosencephaly, facial clefts, and polydactyly
o    Turner Syndrome (45X0) – Associated with cystic hygroma, hydropsfetalis, and heart issues
o    Triploidy (69,XXX / XXY / XYY) – Features include a thick nuchal translucency, molar placenta, and intrauterine growth restriction

•    Important Ultrasound Indicators in Aneuploidy Screening:
o    Nuchal Translucency (NT) Measurement: A standardized method, common pitfalls, and its clinical importance
o    Nasal Bone (NB) Evaluation: The role of absent or underdeveloped nasal bone in detecting aneuploidy
o    DuctusVenosus (DV) Doppler: Reversed A-wave and its link to chromosomal abnormalities
o    Tricuspid Regurgitation (TR) Doppler: Early signs of heart dysfunction and potential congenital heart disease prediction
o    Intracranial Translucency (IT) & Open Spina Bifida: Indicators for neural tube defects

•    Identifying Congenital Heart Disease (CHD) in the First Trimester:
o    Atrioventricular Septal Defect (AVSD) – Commonly seen in Trisomy 21
o    Hypoplastic Left Heart Syndrome (HLHS) – Characterized by a small left ventricle
o    TruncusArteriosus – A condition with a single great vessel anomaly
o    Aberrant Right Subclavian Artery (ARSA) – A marker indicating potential aneuploidy

•    Neural Tube Defects (NTDs) & Posterior Fossa Abnormalities:
o    Open Spina Bifida – Recognized by the ‘Crash sign’ and obliteration of the IT
o    Dandy-Walker Malformation – Noted for a large IT and the presence of a posterior fossa cyst
o    Occipital Encephalocele – Differentiating from open NTDs

•    Soft Markers & Doppler Assessments:
o    The importance of preeclampsia screening and uterine artery Doppler studies
o    New emerging markers: Ophthalmic artery Doppler    
•    FMF Certification & Image Assessment Guidelines:
o    Criteria for submitting Nasal Bone, DV, and TR images
o    Common mistakes that can lead to rejection
o    Technical requirements for achieving successful certification

 

      8 First Trimester Evaluation of Fetal Heart

1. Introduction to First-Trimester Heart Checkups
o    Why it's crucial to assess the fetal heart early on
o    Guidelines from ISUOG and FMF for first-trimester heart screenings
o    The importance of Transabdominal (TA) and Transvaginal (TVS) ultrasound
o    Using a pattern-based method to spot early congenital heart defects (CHD)

2. Systematic Approach to Cardiac Assessment
•    Analyzing the Four-Chamber View 
o    Evaluating cardiac position, axis, and size
o    Assessing the proportions of atrial and ventricular chambers
o    Checking the ventricular inflow tract (mitral & tricuspid valves)

•    Interpreting the Three-Vessel and Trachea (3VT) View 
o    Identifying the normal crossover of major arteries
o    Spotting any unusual vessel positions and size differences

3. Common Congenital Heart Defects (CHDs) and Their Early Indicators
•    Conotruncal Anomalies: 
o    Tetralogy of Fallot (TOF)
o    Double Outlet Right Ventricle (DORV)
o    Transposition of the Great Arteries (TGA)
o    TruncusArteriosus

•    Left-Sided CHDs: 
o    Hypoplastic Left Heart Syndrome (HLHS)
o    Coarctation of the Aorta

•    Right-Sided CHDs: 
o    Pulmonary Atresia with Intact Ventricular Septum (PA-IVS)
o    Tricuspid Atresia
o    Ebstein’s Anomaly

•    Arch Abnormalities & Vascular Rings: 
o    Right Aortic Arch & Double Aortic Arch
o    Aberrant Left Subclavian Artery (ALSA) & Vascular Rings

•    Other Notable Findings: 
o    Pericardial & Pleural Effusions
o    Cardiac Diverticulum & Its Importance

4. Advanced Doppler Techniques & Enhancements
o    Assessing flow direction for confirming CHDs
o    Differentiating between pericardial effusion and pleural effusion
o    The significance of spectral Doppler in evaluating regurgitant flow

5. Learning Through Cases & Recognizing Patterns
o    Step-by-step diagnosis of intricate CHDs using actual case examples
o    The role of follow-up scans in the first trimester (16-week re-evaluation)



  9. First Trimester Evaluation of the Fetal Spine

1: Introduction & Importance of Early Spinal Screening  
o    Traditional anomaly scans at 18–22 weeks compared to 11–14-week screenings.  
o    Why is early detection so important? It opens doors for genetic counseling and    reproductive options.  

2: Grasping Normal Spinal Development  
o    Spine Embryology – The creation of the neural tube, vertebrae, and spinal cord.  
o    Fetal Spine Anatomy – Understanding the cervical, thoracic, lumbar, sacral, and coccygeal segments.  

3: Open vs. Closed Spina Bifida  
o    Understanding Open Spina Bifida – Issues like CSF leakage and brainstem traction.  
o    Types of Open Spina Bifida – Meningocele, Myelomeningocele, and Myeloschisis.  
o    Difficulties in Identifying Closed Spina Bifida – Lack of secondary brain signs.  

4: Ultrasound Indicators for Early Detection  
o    Intracranial Translucency (IT) and Fourth Ventricle Evaluation.  
o    Brainstem-to-Occipital Bone (BSOB) Ratio and Brainstem Thickening.  
o    Maxillo-Occipital Line Displacement and the Parallel Cerebral Peduncles.  
o    The Choroid Bar Sign and Its Importance in Detecting Spinal Defects.  

5: Advanced Axial & Coronal Plane Indicators  
o    The Crash Sign – Midbrain Displacement Against the Occipital Bone.  
o    Aqueduct-to-Occipital Bone Distance Measurement.  
o    Dried Lateral Ventricles in cases of Open Spina Bifida.  
o    Identifying Posterior Masses and Direct Visualization of Spinal Defects.  

6: Other Spinal Anomalies in the First Trimester  
o    Kyphosis & Scoliosis – Issues like Hemivertebra and Vertebral Segmentation Defects.  
o    Caudal Regression Syndrome – Including Sacral Agenesis, Megacystis, and Limb Defects.  
o    Diastematomyelia – The Split Cord Anomaly and Early Identification through Coronal Views.  
o    Body Stalk Anomaly – Severe Scoliosis with a Short or Absent Cord.  
o    OEIS Complex – Omphalocele, Exstrophy, Imperforate Anus, and Spinal Defects.  

7: Practical Steps for First Trimester Spinal Screening  
o    A Step-by-Step Guide to Examining the Brain & Spine.  
o    Transabdominal vs. TransvaginalSonography – When should we opt for TVS?  
o    Direct Spine Evaluation – Finding the Best Fetal Positioning.  
o    Differentiating Open Spina Bifida from Other CNS Abnormalities.  

8: Clinical Cases, Insights & Key Takeaways  
o    Real-Life Case Studies & Imaging Illustrations.  
o    Contrasting Findings from the First and Second Trimester.  
o    Tackling Challenges & Exploring Future Opportunities in Early Spinal Imaging.


 

10. First Trimester Evaluation of the Fetal Face

The significance of evaluating the fetal face during the first trimester
•    How the face develops in embryology
•    Guidelines from ISUOG and FMF for screening facial features in the first trimester
•    Essential imaging perspectives:

o    Mid-sagittal view
o    Retronasal triangle view
o    Axial and coronal views

•    Assessing the nasal bone and its importance in detecting aneuploidy
•    Understanding the frontomaxillary facial angle and its uses
•    Examining:

o    Forehead and overall facial profile
o    Nose and its tip
o    Lips along with primary and secondary palates
o    Mandible and chin    
o    Orbits and spacing between them

External ears
•    Notable sonographic indicators:
o    Maxillary gap sign
o    Superimposed-line sign
o    Premaxillary protrusion
o    Crash sign
o    Gibbus deformity

•    Signs of cleft lip and palate: how to detect and confirm using specific planes
•    Checking for micrognathia and retrognathia
•    Associated syndromes and conditions:

o    Alobarholoprosencephaly
o    Open spina bifida
o    Pierre Robin Sequence (PRS)
o    -Trisomy 21, 18, and 13
o    Goldenhar syndrome
o    Treacher Collins syndrome
o    Epignathus (oropharyngealteratoma)
o    Femoral hypoplasia–unusual facies syndrome
o    Amniotic band syndrome

•    The contribution of 3D ultrasound in evaluating facial structures
•    Helpful advice on when to follow up on borderline or subtle observations
•    A recap of best practice protocols and a structured approach to scanning


            11. Genetics in Fetal Medicine

•    Introduction to Genetics in Fetal Medicine  
o    Why it matters during every trimester  
o    Insights for radiologists during counseling

•    Understanding Genetic Terms and DNA Structure  
o    Overview of genes, alleles, chromosomes, and base pairs  
o    Difference between genotype and phenotype, exons and introns  

•    Exploring Types of Genetic Abnormalities  
o    Numerical issues: Trisomies, Monosomy, Triploidy
o    Structural issues: Deletions, duplications, insertions, translocations, and ring chromosomes  

•    Microdeletion and Microduplication Syndromes  
o    Conditions like DiGeorge, Williams, and Prader-Willi syndromes  
o    Copy Number Variants (CNVs)  

•    Single Gene (Monogenic) Disorders  
o    Categories: Autosomal dominant, recessive, X-linked  
o    Distinction between de novo and inherited mutations  
o    Examples: Achondroplasia, Marfan syndrome, Sickle Cell disease, Duchenne Muscular Dystrophy  

•    Screening Approaches  
o    First-trimester combined screening (NT, nasal bone, DV, TR + biochemistry)  
o    Second-trimester quadruple test  
 Non-Invasive Prenatal Testing (NIPT) – methods, accuracy, and limitations  

•    Diagnostic Techniques  
o    Karyotyping – banding techniques, resolution, and limitations  
o    FISH – quick probe-based detection  
o    QF-PCR – fast testing for aneuploidy using STRs  
o    MLPA – probe-based detection of CNVs and genes  
o    Chromosomal Microarray (CMA) – high-resolution genome-wide CNV analysis  
o    Sanger Sequencing – standard gene sequencing method  
o    Next Generation Sequencing (NGS) – including Whole Exome and Whole Genome Sequencing  

•    Variants of Uncertain Significance (VOUS)  
o    How to interpret them, study inheritance, and assess clinical importance  
•    Clinical Workflow: Choosing the Right Test  
o    Decisions based on ultrasound findings, screening outcomes, patient history, and phenotype  
o    Diagnostic decision trees and flowcharts to guide choices  
o    Importance of DNA storage and sequential testing for unresolved cases

12. Understanding Aneuploidy Risk Assessment from an Imaging Perspective

1.    Conceptual Foundation  
o    What is aneuploidy and why is it important?  
o    How risk varies with maternal and gestational age  
o    Insights into fetal demise trends across different aneuploidies  

2.    The Imaging Approach  
o    The role of ultrasound in chromosomal screening  
o    Understanding hardware versus software (structural versus chromosomal insights)  
o    Introduction to soft markers as visual indicators for chromosomal risk  

3.    Screening Strategies  
o    What exactly is a screening test? (Comparing a priori risk to adjusted risk)  
o    How ultrasound helps fine-tune risk from dual markers/NIPT  
o    Limitations of screening: it’s not just a simple “Yes/No,” it’s about “Probability”  

4.    First Trimester Markers  
o    Nuchal Translucency (NT) – methods, interpretation, and implications  
o    Absent Nasal Bone – criteria for echogenicity and views required  
o    DuctusVenosus Flow – significance of a reversed A-wave  
o    Tricuspid Regurgitation – techniques, velocity cut-offs, and their importance  

5.    Case-Based Management of Increased NT  
o    Follow-up decision tree at 14–16 and 20–22 weeks  
o    Links with genetic syndromes and structural anomalies  
o    Case examples like cystic hygroma, jugular sacs, hydrops, and triploidy

6.     Second Trimester Genetic Sonogram  
•    The 9 Soft Markers:  
o    Ventriculomegaly
o    Absent/Hypoplastic Nasal Bone  
o    Increased Nuchal Fold  
o    ARSA (Aberrant Right Subclavian Artery)  
o    Echogenic Bowel  
o    Hydronephrosis
o    Short Humerus
o    Short Femur  
o    EIF (Echogenic Intracardiac Focus)  

7.    Marker Interpretation and Likelihood Ratios  
o    LR⁺ and LR⁻ based on meta-analysis  
o    How to determine composite risk from imaging markers  
o    Excluding short humerus in likelihood ratio calculations  
o    Effect of positive markers compared to all negative markers (7.7× risk reduction)  

8.    Common Pitfalls and Diagnostic Pearls  
o    Telling apart ARSA from an Azygos vein  
o    Confirming nasal bone with the retronasal triangle technique  
o    Managing duplicated renal pelvis and understanding hydronephrosis thresholds  
o    Real-life examples: heart anomalies (AVSD, HLHS), omphalocele, cystic placenta  

9.    Strategic Integration with Other Tests  
•    What to do in various scenarios:  
o    Intermediate risk based on FTS  
o    No prior screening completed  
o    Post-NIPT results (whether positive or negative)  

•    Knowing when a genetic sonogram is crucial and when it’s not necessary  
10.    Philosophical Takeaway  
o    The need for careful interpretation of soft markers  
o    The value of observation: “Even in the normal, there’s plenty to learn”  
o    The changing role of fetal imaging in precise perinatal care

13. Caesarean Scar Pregnancies and Placenta                                Accreta Spectrum

•    The study of how common Cesarean Scar Pregnancy (CSP) really is
•    How to identify CSP through ultrasound and tell it apart from low implantation
•    Understanding the impact of niche and residual myometrial thickness (RMT)
•    Different types of CSP classification (Type 1, 2, 3 based on UCL and SL)
•    The sliding sign, peritrophoblastic flow, and comparing transverse and sagittal approaches
•    Using Color Doppler imaging to evaluate CSP
•    How CSP can develop into Placenta Accreta Spectrum (PAS)
•    The histological foundation: Nitabuch's layer and the decidual interface
•    Classifying PAS: accreta, increta, percreta

•    Key grayscale ultrasound indicators:
o    Absence of a clear zone
o    Thinning of the myometrium
o    Bulging of the placenta
o    Bladder wall interface (= sign)

•    Color Doppler indicators of PAS:
o    Connecting vessels
o    Lacunar feeder vessels
o    Increased blood flow under the placenta

•    Key differences between PAS and third-trimester placental lakes
•    Common ultrasound challenges: probe pressure, PRF settings, and obesity factors
•    The Placenta Accreta Index (PAI - 2014) and the updated PAS scoring model for 2023
•    The value of MRI in assessing PAS
•    The critical role of early detection and teamwork in management


 14. First Trimester Anomalies Other                       Than CVS and CNS

•    Review of non-CNS and non-CVS issues during the first trimester
•    Examination of the fetal face and neck: looking for cleft palate, jugular lymphatic sacs, and cystic hygroma
•    Investigating thoracic conditions: including diaphragmatic hernia, pleural effusion, ricardial effusion, and pulmonary agenesis

•    Assessing abdominal wall issues:
o    Omphalocele
o    Gastroschisis
o    Pentalogy of Cantrell
o    Bladder and cloacalexstrophy
•    Identifying gastrointestinal concerns: such as cloacal malformations, enteric and hepatic cysts, and GI atresias

•    Looking into genitourinary anomalies:
o    Megacystis and LUTO (posterior urethral valve, urethral atresia)
o    Renal dysplasia, agenesis, and cross-fused ectopia
o    Meckel-Gruber syndrome

•    Checking umbilical and venous anomalies:
o    Single umbilical artery (SUA)
o    Missing ductusvenosus (DV) and unusual UV-IVC connections

•    Noting skeletal abnormalities and dysplasias:
o    Polydactyly, ectrodactyly, acheiria, symbrachydactyly
o    Radial ray defect, clubfoot, iniencephaly, osteogenesisimperfecta, and short rib-polydactyly syndrome
o    Sirenomelia, sacral agenesis, and limb reduction defects

•    Conducting functional assessments:
o    Fetal movement analysis
o    Diagnosis of FADS (FetalAkinesia Deformity Sequence)

•    Gaining clinical insights:
o    The importance of NT, NB, DV, TR in screening for anomalies
o    The evolving importance of the first trimester for targeted anomaly scans
o    When and how to monitor evolving or borderline anomalies


   16. Ultrasound Evaluation of Multiple              Pregnancies in the First Trimester and                            Risk Assessment
•    The increasing occurrence and importance of twin pregnancies
•    Types of twins: Dizygotic versus Monozygotic
•    How the day of embryonic splitting affects chorionicity and amnionicity
•    Evaluating chorionicity: Using Lambda versus T-sign, membrane thickness, and common pitfalls
•    Strategies for dating both spontaneous and IVF twin pregnancies
•    Understanding CRL and NT discordance: definitions, implications, and early signs of complications
•    What to do when chorionicity is uncertain: always prioritize safety
•    Thorough evaluation of amnioticity through sac visualization, yolk sacs, and membranes
•    MCMA twins: dealing with cord entanglement, delivery planning, and ruling out conjoined twins
•    Learning through case studies on conjoined twins (like craniopagus, thoracopagus, parapagusdicephalus)
•    Identifying diagnostic Doppler signs and prognosis in TRAP sequence (acardiac twin)

•    Twin-to-Twin Transfusion Syndrome (TTTS):
o    Understanding its pathophysiology
o    Quintero staging system
o    The significance of bladder visibility, MVP, and Doppler changes
o    Treatment options like laser ablation and serial amniocentesis

•    The classic presentation of a “stuck twin”
•    Distinguishing between amniotic fluid discordance and early TTTS

    Selective IUGR (sIUGR) in monochorionic twins:
o    Gratacós classification (Type I–III)
o    Prognosis based on Doppler findings and sudden demise risk

•    Twin AnemiaPolycythemia Sequence (TAPS):
o    Understanding its pathophysiology
o    The importance of MCA Doppler for diagnosis
o    Differences in placental echogenicity

•    Genetic screening for twins: limitations of NIPT, specific risk assessments, and guidance for invasive testing
•    Professional advice on how to label and document twin pregnancies
•    Key takeaways on the importance of vigilance, monitoring frequency, and a systematic approach


 17. First Trimester Screening for Preeclampsia     and Fetal Growth Restriction (FGR)
•    The significance of screening for preeclampsia (PE) and fetal growth restriction (FGR) in India
•    Current statistics on maternal and neonatal mortality in the country
•    Understanding why preeclampsia is more critical than congenital anomalies in the Indian context
•    A brief look at the Samrakshan initiative by IRIA
•    An introduction to the two-stage disease model of preeclampsia
•    Comparing normal and abnormal placentation through spiral artery remodeling

•    Factors influencing preeclampsia, including:
o    Maternal characteristics
o    Mean Arterial Pressure (MAP)
o    Uterine artery Pulsatility Index (PI)
o    Biochemical markers like PLGF, PAPP-A, and sFLT-1
•    How to use the FMF calculator for personalized risk assessment
•    Understanding ethnic-specific benchmarks for the Indian population (1 in 150 for PE)
•    Examples showing how PE and FGR can be overlooked without combined screening
•    The role of aspirin (150 mg at night) and insights from the ASPRE trial
•    Is late initiation of aspirin (16–18 weeks) beneficial?
•    Guidelines for understanding screen-positive and negative results
•    Using the Doppler technique for uterine artery PI, mean PI, and gestation-specific analysis
•    Why the notch method is no longer utilized in predicting PE
•    Findings from Samrakshan research indicating a decrease in maternal mortality, neonatal mortality, FGR, and preterm births
•    Screening protocols for twin pregnancies: how applicable are they?
•    Helpful tips for reporting what to include in PE/FGR screening results
•    Counseling for compliance regarding aspirin use
•    An invitation to become part of the Samrakshan Movement
•    A heartfelt tribute to Dr.KyprosNicolaides, the visionary behind the Fetal Medicine Foundation



 

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