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

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Instructor: Multiple Renowned Faculties

Language: English

Valid Till: 2025-03-31

$238.23 39% OFF

$142.94 including 18% GST

       

  

12  January  2025 (Sunday)
Day 1

S. No

Time

Topic

Faculty

1

8.30-9 am

Pregnancy Dating 30 min

Dr Jiten Kumar

2

9-10 am

Ectopic pregnancy (Adnexal and Non Adnexal) 60 min

Dr Jiten Kumar

3

10-11 am

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

Dr Shilpa Satarkar

4

11-12 pm

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

6

1-2 PM

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

Dr Jiten Kumar

 

2-3 pm

LUNCH

 

7

3-4 pm

First Trimester Evaluation of Fetal Heart (60 min)

Dr Shilpa Satarkar

8

4-5 pm

First Trimester Neurosonogram - (60 min)

Dr Alok Varshney

9

5-5.30 pm

First Trimester Evaluation of Fetal spine 30 min

Dr Alok Varshney

 

19  January  2025 (Sunday)
Day 2

S. No

Time

Topic

Faculty

1

8.30-9.30 am

First Trimester Evaluation of Fetal Face (60 min)

Dr Alok Varshney

2

9.30-10.30 am

First Trimester Anterior Abdominal Wall Defects ( 60 min)

Dr Shilpa Satarkar

3

10.30-11.30 am

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

Dr Shilpa Satarkar

4

11.30-12.30 pm

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

 

Dr Jiten Kumar

5

12.30-1.30 pm

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

Dr Alok Varshney

 

1.30-2.30 pm

LUNCH

 

6

2.30-3.30 pm

Ultrasound Evaluation of Multiple Pregnancies in first trimester and Risk Assessment

(60 min)

Dr Jiten Kumar

 

 

 

 

7

3.30-4.30 pm

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

sequencing (60 min)

Dr Alok Varshney

8

4.30-5.30 pm 

First Trimester Screening for PE and FGR (60 min)

Dr Shilpa Satarkar

 

 

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ISUOG & AIUM:  First Trimester Scan Guidelines /11-14weeks Anomaly scan : Indications and check points (Dr. Alok Varshney)

The ultrasound performed during the first trimester, particularly between 11 to 14 weeks of pregnancy, serves as a fundamental aspect of contemporary prenatal healthcare. Supported by the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) and the American Institute of Ultrasound in Medicine (AIUM), this examination allows for the evaluation of fetal development, identification of potential issues, and early assessment of pregnancy-related risks. This presentation will delve into the guidelines, purposes, and crucial considerations associated with the 11-14 week anomaly scan, incorporating insights from ISUOG and AIUM.

1. Purposes of the First-Trimester Anomaly Scan

This presentation will detail the main and secondary goals of the 11-14 week scan, which include:

  • Determining gestational age and confirming fetal viability.
  • Evaluating chorionicity and amnionicity in cases of multiple gestations.
  • Screening for chromosomal abnormalities and structural defects.
  • Identifying pregnancies at increased risk for conditions such as preeclampsia (PE), fetal growth restriction (FGR), and other complications.
  • Additional indications, such as assessments for IVF pregnancies, maternal health conditions, and past pregnancy issues, will also be examined.

 

2. Recommendations and Procedures for the Scan

The session will thoroughly review the ISUOG and AIUM guidelines for performing a thorough first-trimester ultrasound:

  • Fetal Viability and Measurements:
  • Determining crown-rump length (CRL) for dating purposes.
  • Assessing the size and appearance of the yolk sac.

 

Aneuploidy Screening:

  • Measuring nuchal translucency (NT).
  • Evaluating the nasal bone (NB).
  • Using Doppler ultrasound on the ductus venosus (DV) to detect abnormal blood flow.
  • Assessing tricuspid regurgitation (TR).

 

Structural Anomalies:

  • Early identification of abnormalities in cranial, abdominal, limb, and thoracic regions.
  • Recognizing specific markers for prevalent syndromes like omphalocele, cystic hygroma, and gastroschisis

 

3. Essential Steps in Fetal Anatomy Evaluation

A systematic method for analyzing fetal anatomy at 11-14 weeks will be presented, addressing:

  • Cranial and Facial Structures: Examining skull shape, intracranial translucency (IT), eye orbits, and overall profile.
  • Thorax and Heart: Early analysis of the four-chamber heart view and outflow tracts.
  • Abdomen and Cord Attachment: Reviewing the anterior abdominal wall, presence of a stomach bubble, and cord vessels.
  • Limbs: Checking for the presence and movement of both upper and lower limbs.
  • Placenta and Uterus: Evaluating placental positioning, structure, and looking for uterine anomalies or fibroids.

 

 

First Trimester Neurosonogram

 

 The first trimester is crucial for examining the initial stages of brain development and spotting possible central nervous system (CNS) issues. With the advent of advanced imaging techniques and a deeper grasp of embryological growth, neurosonography has become increasingly vital during early pregnancy. This presentation aims to delve into the first-trimester neurosonogram, focusing on embryological developments, imaging methodologies, diagnostic standards, and the clinical significance of early results.

 

1. Significance of First-Trimester Neurosonography 

  • We will start with an introduction to the embryological progression of the fetal brain, underlining essential milestones like neural tube closure, the emergence of primary brain vesicles, and the commencement of cortical development. The discussion will cover how early CNS assessments can enhance diagnostic precision and inform future interventions.

 

2. Methods for Conducting a First-Trimester Neurosonogram 

Attendees will learn about effective strategies for optimal imaging in the first trimester: 

  • Transabdominal vs. Transvaginal Techniques: Understanding when and how to use each approach for comprehensive neurosonography. 
  • High-Resolution Ultrasound and 3D/4D Imaging: Improving clarity in visualizing intricate brain structures. 
  • Standardized Imaging Planes: Ensuring consistent views in axial, sagittal, and coronal planes for reliable evaluations.

 

3. Normal Neurodevelopment in Early Pregnancy 

We will provide a thorough examination of how normal brain structures appear sonographically: 

  • Observation of cranial bones and head symmetry. 
  • Identification of midline components like the falx cerebri and cavum septi pellucidi. 
  • Recognition of the developing choroid plexus, ventricles, and posterior fossa. 
  • Distinguishing between typical variations and pathological signs.

 

4. Identifying CNS Anomalies Early On 

The presentation will spotlight sonographic characteristics of both common and rare CNS anomalies identifiable in the first trimester: 

  • Open Neural Tube Defects: Including anencephaly, exencephaly, and encephalocele. 
  • Midline Anomalies: Such as holoprosencephaly and corpus callosum agenesis. 
  • Posterior Fossa Abnormalities: Initial indicators of Dandy-Walker malformation and various cerebellar irregularities. 
  • Cystic Lesions: Choroid plexus cysts and signs of intracranial hemorrhage. 
  • Abnormal Cranial Shapes: Lemon or cloverleaf forms signaling potential syndromic conditions.

 

 

5. Patient Counseling and Prognosis 

  • Guidelines for discussing first-trimester CNS findings with patients will be shared, covering: 
  • How to convey the implications of findings and possible outcomes. 
  • Recommendations for follow-up imaging and second-trimester neurosonograms for verification. 
  • Guidance on further genetic or advanced imaging options available.

 

 

First Trimester Evaluation of Fetal spine

 The use of ultrasound in the first trimester has become essential for evaluating fetal anatomy, particularly the spine. With advancements in imaging technology and a deeper understanding of embryology, healthcare providers can now identify spinal abnormalities sooner than previously possible. This presentation aims to deliver an in-depth look at how the fetal spine is evaluated during the first trimester, focusing on imaging methods, standard developmental patterns, and the identification of spinal anomalies.

 

1. Introduction: Significance of Early Spine Assessment 

  • We will start with a discussion on why evaluating the spine in the early stages of pregnancy is crucial. The focus will be on how early detection can positively influence pregnancy outcomes and inform subsequent care strategies. 

 

 

2. Embryology of the Fetal Spine 

A thorough exploration of spinal embryology will outline the vital phases of development, such as: 

  • Neurulation and closure of the neural tube. 
  • Segmentation of vertebrae. 
  • Differentiation of the spinal cord and adjacent structures. 
  • Grasping these processes is vital for distinguishing between typical and atypical findings during the first trimester. 

 

3. Imaging Techniques for Fetal Spine Assessment 

This segment will examine the best methods for visualizing the fetal spine during early pregnancy: 

  • Transabdominal and Transvaginal Ultrasound: Indications for both techniques and advice on achieving clear images. 
  • Standardized Imaging Planes: Use of axial, sagittal, and coronal planes to evaluate spinal structure and alignment. 
  • Advanced Modalities: The contribution of high-resolution transducers and 3D/4D imaging in enhancing diagnostic precision. 

 

4. Normal Sonographic Characteristics of the Fetal Spine 

Participants will learn how to recognize important aspects of normal spinal anatomy, including: 

  • Viewing ossification centers in the vertebrae. 
  • Assessing spine alignment and curvature. 
  • Evaluating the integrity of the skin and soft tissues above the spine. 
  • Criteria for distinguishing between normal variants and potential issues will also be addressed. 

 

5. Identifying Spinal Anomalies in the First Trimester 

The discussion will cover the sonographic features of both common and rare spinal anomalies observable in the first trimester: 

  • Open Neural Tube Defects (ONTDs): Myelomeningocele and rachischisis, highlighting cranial indicators like lemon and banana signs. 
  • Closed Spinal Dysraphism: Obstacles in identifying tethered cord or lipomyelomeningocele. 
  • Scoliosis and Kyphosis: Initial indicators of irregular spinal curvature. 
  • Associated Anomalies: Conditions linked to syndromes and their relevance to spinal anomalies. 

 

6. Combining Findings with Screening and Risk Evaluation 

  • This section will explore how findings from the first trimester can be integrated with other indicators, such as nuchal translucency (NT) and biochemical markers, to enhance risk assessment for chromosomal abnormalities and syndromic disorders. 

 

7. Patient Counseling and Follow-Up 

Guidelines will be provided for advising patients on spinal findings from the first trimester, covering: 

  • How to interpret isolated versus syndromic results. 
  • Recommendations for follow-up imaging during the second trimester. 
  • Genetic testing and advanced imaging options (such as fetal MRI) when necessary

 

 

 

First Trimester Evaluation of Fetal Face

 The first trimester is a crucial phase for examining fetal anatomy, and recent technological innovations in imaging have made it possible to closely scrutinize the fetal face during this period. This presentation aims to deliver an in-depth exploration of evaluating the fetal face in the first trimester, emphasizing imaging methods, developmental stages, typical observations, and the early identification of facial anomalies.

 

1. Significance of Early Facial Assessment 

  • This presentation will underscore the importance of examining the fetal face during the first trimester, highlighting its potential to uncover initial indicators of chromosomal irregularities, syndromic disorders, and isolated facial defects.

 

2. Embryological Development of the Fetal Face 

An extensive examination of the embryological processes involved in facial formation will cover: 

  • The merging of facial prominences. 
  • The development of both primary and secondary palates. 
  • The timing and mechanisms behind midline structures and oronasal growth. 
  • Grasping these processes is essential for recognizing normal versus abnormal ultrasound findings.

 

3. Imaging Techniques for First-Trimester Facial Evaluation 

The session will delve into the most effective imaging techniques for a thorough view of the fetal face: 

  • Transabdominal and Transvaginal Ultrasound: Benefits and scenarios for each method. 
  • Standard Imaging Planes: Midsagittal, axial, and coronal planes used for evaluating various facial features. 
  • Advanced Techniques: The contributions of 3D/4D ultrasound and high-resolution transducers in improving detail and diagnostic precision.

 

4. Normal Sonographic Features of the Fetal Face 

Participants will learn about the typical sonographic characteristics of facial structures during the first trimester, including: 

  • The nasal bone and profile. 
  • The maxilla, mandible, and eye sockets. 
  • Nuchal translucency (NT) in relation to facial anatomy. 
  • Midline features such as the philtrum and palate.

 

5. Early Detection of Facial Anomalies 

The presentation will address the sonographic indicators of both common and rare facial anomalies that can be detected in the first trimester: 

  • Cleft Lip and Palate: Identifying gaps in the upper lip and palate. 
  • Nasal Bone Abnormalities: Hypoplastic or absent nasal bone as a sign of aneuploidy, especially trisomy 21. 
  • Hypertelorism and Hypotelorism: Irregular orbital spacing linked to syndromic conditions. 
  • Midline Defects: Holoprosencephaly, facial dysmorphism, and other midline irregularities. 
  • Micrognathia: Initial indicators of mandibular hypoplasia associated with genetic syndromes.

 

6. Integrating with Risk Assessment and Genetic Screening 

  • This portion will address how findings from first-trimester facial examinations relate to aneuploidy screening methods, including nuchal translucency (NT), ductus venosus Doppler assessments, and maternal serum markers. It will also touch upon non-invasive prenatal testing (NIPT) and invasive procedures for cases where abnormalities are suspected.

 

7. Counseling and Follow-Up 

Participants will receive advice on how to communicate with patients regarding first-trimester facial findings, including: 

  • Distinguishing between isolated findings and syndromic implications. 
  • Recommendations for follow-up imaging in the second trimester and beyond. 
  • Guidelines for genetic counseling and advanced imaging when necessary.

 

 

Prenatal Diagnosis: Chorionic Villus Sampling (CVS) and  Amniocentesis 

 

Chorionic Villus Sampling (CVS) and Amniocentesis stand as essential methods in the field of prenatal diagnosis, facilitating the early and precise identification of chromosomal, genetic, and specific structural issues. This presentation will delve into these invasive techniques, highlighting their purposes, methodologies, safety considerations, and integration into contemporary prenatal healthcare.

 

1. The Significance of Invasive Prenatal Diagnosis

  • We’ll start with an introduction to the vital functions of CVS and amniocentesis in prenatal evaluation, underlining their critical role in verifying abnormalities flagged during initial screening and imaging processes. We’ll also touch on how advancements in diagnostic technology impact these invasive methods.

 

2. When to Consider CVS and Amniocentesis

A thorough examination of clinical scenarios warranting these procedures will be presented, including:

Advanced maternal age.

  • Abnormal outcomes from first-trimester screenings indicating increased aneuploidy risk.
  • Positive results from non-invasive prenatal testing (NIPT).
  • A family history of genetic or chromosomal conditions.
  • -Ultrasound indications of structural anomalies or syndromic disorders.
  • Assessments for infections like cytomegalovirus (CMV) and toxoplasmosis.

 

3. Overview of Procedures and Techniques

We’ll outline the procedural specifics for both methods:

Chorionic Villus Sampling (CVS):

  • Timing: Conducted between 10 to 14 weeks of gestation.
  • Approaches: Transcervical and transabdominal methods, their indications, techniques, and choice based on placental placement.
  • Sample collection and management for cytogenetic and molecular testing.

 

Amniocentesis:

  • Timing: Generally performed after the 15-week mark of gestation.
  • Procedure details: Needle insertion, collection of amniotic fluid, and monitoring post-procedure.
  • Applications for fetal karyotyping, genetic assessments, and analysis of amniotic fluid biomarkers.

 

4. Risks and Safety Measures

We will engage in a comprehensive discussion regarding the risks associated with these procedures, including:

  • Miscarriage risks: Evidence-based statistics for CVS and amniocentesis.
  • Other potential complications: Risks of infection, leakage of amniotic fluid, and maternal sensitization in Rh-negative cases.
  • Strategies to mitigate risks, such as utilizing ultrasound guidance and ensuring operator proficiency.

 

5. Diagnostic Efficacy and Innovations

The presentation will address the diagnostic capabilities of CVS and amniocentesis concerning:

  • Chromosomal assessments: Karyotyping, microarray analysis, and rapid detection of aneuploidy (RAD).
  • Genetic evaluations: Testing for single-gene disorders, next-generation sequencing (NGS), and whole-exome sequencing (WES).
  • New frontiers: RNA analysis and proteomic investigations for deeper insights into fetal health.

 

6. Counseling and Ethical Issues

We will outline guidelines for counseling before and after the procedures, focusing on:

  • Effectively communicating risks and benefits to patients.
  • Addressing parental anxieties and ethical questions arising from abnormal findings.
  • Pathways for decision-making regarding pregnancy continuation or termination.

 

7. Comparing CVS and Amniocentesis

A detailed comparison will be presented, showcasing:

  • The benefits and drawbacks of each method concerning timing, diagnostic effectiveness, and safety.
  • Recommendations for choosing between CVS and amniocentesis based on specific circumstances.

 

Caeserian Scar Pregnancies and Placenta Accreta Spectrum (Dr Shilpa Satarkar)

 

  • Caesarean scar pregnancies (CSP) and the placenta accreta spectrum (PAS) present significant hurdles in contemporary obstetrics, impacting both maternal and fetal health outcomes considerably. This presentation seeks to deliver an in-depth exploration of these conditions, focusing on cutting-edge diagnostic methods, risk assessment, and management practices grounded in research.
  • We will start by clarifying what a Caesarean Scar Pregnancy (CSP) entails— a rare instance of ectopic pregnancy where the embryo implants in the scar tissue from a previous cesarean section. 
  • We will discuss the Pathophysiology and Risk Factors like uterine scarring, assisted reproductive technology (ART), and the implications of multiple previous cesarean procedures.
  • We will discuss high-resolution transvaginal ultrasound as the primary diagnostic tool, we will also consider color Doppler imaging to evaluate blood flow and invasion levels. Additionally, we will discuss the value of MRI in more complicated scenarios.
  • We will focus on personalized treatment options that encompass medical therapies (like methotrexate), surgical interventions (whether hysteroscopic or laparoscopic), and minimally invasive methods aimed at safeguarding fertility or ensuring thorough removal.
  • We will discuss Epidemiological Trends and Risk Factors as there is increasing prevalence of PAS linked to the rise in cesarean delivery rates. Identifying ultrasound indicators such as the "placental bulge," lacunae, and atypical Doppler flow patterns. We’ll also assess how MRI can assist in examining invasion into surrounding tissues and aid surgical planning.




 


Early Pregnancy; Sono embryology : Normal and Abnormal (Early embryonic development to pregnancy failure), Early Preg Failure : Diagnostic criteria and prognosticating factors

 

The initial stages of pregnancy represent a pivotal time characterized by swift embryonic growth, which significantly impacts both maternal and fetal health. This presentation aims to delve deeply into sonoembryology, scrutinizing the assessment of typical and atypical early embryonic development, along with the identification and prediction of early pregnancy loss.

Typical Early Embryonic Progression: We will commence by detailing the phases of early embryonic growth from fertilization through to organ formation, emphasizing key sonographic indicators. Notable points include:

  • The sequential emergence of the gestational sac, yolk sac, and embryo.
  • The timing for detecting cardiac activity, including standard heart rate ranges and growth trajectories.
  • Ultrasound characteristics of normal trophoblastic development and placentation.

 

Irregular Development and Initial Pregnancy Loss: The discussion will shift to abnormal sonographic indicators that suggest developmental halts or pregnancy loss:

  • Criteria signifying embryonic demise, such as the absence of cardiac activity at designated crown-rump length (CRL) thresholds and an empty gestational sac at specified mean sac diameters (MSD).
  • Patterns of abnormal yolk sac shape, irregular sac contour, and subchorionic hemorrhage as indicators of unfavorable outcomes.
  • Delayed embryonic growth and its implications for prognosis.

 

Diagnostic Standards for Early Pregnancy Loss: A thorough examination of global guidelines (such as ACOG, NICE) for identifying early pregnancy loss will be provided, encompassing:

  • Rigorous sonographic criteria aimed at reducing false-positive diagnoses.
  • The significance of serial β-hCG measurements and follow-up imaging in uncertain cases.

 

Factors Influencing Outcomes in Early Pregnancy Loss: The conversation will underscore elements that affect outcomes in pregnancies susceptible to loss:

  • Maternal characteristics, including age, medical background, and history of previous pregnancy losses.
  • Imaging findings such as discrepancies in CRL, bradycardia, and abnormal Doppler waveforms in trophoblastic tissue.
  • The role of biochemical markers in evaluating viability.


 

First Trimester Evaluation of Fetal Heart 

 

The first trimester presents a pivotal moment for assessing the fetal heart, allowing for the early identification of congenital heart defects (CHDs) and fostering improved pregnancy outcomes through prompt interventions. This presentation will delve into sophisticated imaging methods, the normal progression of cardiac development, and techniques for spotting heart abnormalities during the initial trimester.

Significance of Early Heart Evaluation: We will start with a look at the embryonic development of the fetal heart, underlining the key developmental milestones occurring from 5 to 14 weeks of gestation. The session will stress the importance of early CHD detection in both high-risk and low-risk groups, as this can significantly influence management strategies and outcomes.

Participants will discover essential imaging techniques and protocols necessary for effective cardiac evaluations in the first trimester:

  • Transabdominal and Transvaginal Ultrasound: Understanding when to choose these methods for comprehensive imaging.
  • Standard Views: Capturing the four-chamber view, outflow tracts, and three-vessel view during the first trimester.
  • High-Resolution Ultrasound and Doppler Imaging: Utilizing these tools for evaluating blood flow, cardiac performance, and valve functionality.

We will outline normal cardiac structure, function, and development during early pregnancy, including heart rate ranges, chamber formation, and valve growth. The role of first-trimester nuchal translucency (NT) as a screening method for CHD will also be examined.

Pattern recognition to recognize CHDs in First trimester will be discussed

Participants will explore the early diagnosis of both common and rare CHDs, covering:

  • Structural Issues: Hypoplastic left heart syndrome (HLHS), atrioventricular septal defects (AVSD), and transposition of the great arteries (TGA).
  • Functional Concerns: Fetal bradycardia, tachycardia, and arrhythmias.
  • High-Risk Indicators: Elevated NT, atypical ductus venosus (DV) waveforms, and tricuspid regurgitation (TR).

 

 

 


First Trimester Anterior Abdominal Wall Defects

  • The first trimester is a pivotal time for identifying and assessing anterior abdominal wall defects (AAWDs), which rank among the most frequently occurring congenital disorders. This presentation will delve into the intricacies of embryology, ultrasound characteristics, differential diagnoses, and management strategies for AAWDs, with a strong focus on the importance of early identification and supportive counseling.  
  • Embryological Development and Pathophysiology: We will startwith a discussion on the typical embryonic formation of the anterior abdominal wall and its completion by 12 weeks gestation. The embryological factors contributing to conditions like gastroschisis, omphalocele, bladder exstrophy, and the pentalogy of Cantrell will be highlighted, emphasizing when and how these developmental interruptions occur.  

Ultrasound Techniques for Early Identification: Attendees will gain insights into the fundamentals of first-trimester ultrasound in examining the fetal anterior abdominal wall:  

  • Optimal Imaging Methods: A focus on both transabdominal and transvaginal ultrasound techniques, prioritizing high-resolution imaging.  
  • Key Identifiable Features: Accurate recognition of umbilical cord insertion points, the anterior abdominal wall, and normal physiological midgut herniation.  
  • Doppler's Role: Utilizing Doppler imaging to evaluate vascular patterns that help differentiate between AAWDs, such as distinguishing omphalocele from gastroschisis.  

Distinguishing Normal from Abnormal Herniation: We will underscore how crucial timing is in differentiating normal physiological midgut herniation (up to 11 weeks) from actual defects. We will provide specific measurements and criteria to facilitate accurate distinctions.  

Common and Uncommon Abdominal Wall Defects: A thorough exploration of the sonographic characteristics, differential diagnoses, and clinical ramifications of various AAWDs will follow:  

  • Gastroschisis: An isolated defect in the abdominal wall with bowel floating freely, typically lacking a membrane or chromosomal linkage.  
  • Omphalocele: A central defect where herniation is covered by a membrane, often linked to chromosomal anomalies and syndromic conditions.  
  • Bladder and Cloacal Exstrophy: Early detection of these unusual defects and how to distinguish them from more prevalent anomalies.  
  • Pentalogy of Cantrell: A complex defect involving multiple systems including the abdominal wall, pericardium, and diaphragm, usually associated with a poor outcome.  

 

Risk Assessment and Associated Anomalies: We will focus on how AAWDs can indicate potential chromosomal and structural anomalies. We’ll explore integrating first-trimester screening techniques, including nuchal translucency assessments, serum markers, and non-invasive prenatal testing (NIPT).  

 

Parental Counseling and Prognosis: We will discuss how to counsel parents regarding findings in the first trimester, covering:  

  • The distinction between isolated defects and syndromic conditions.  
  • Prognostic indicators based on defect dimensions, associated anomalies, and karyotype results.  
  • Referral processes for genetic counseling, second-trimester anatomy evaluations, and fetal interventions when necessary.  

 

We will wrap up with a look at new technologies such as 3D/4D ultrasound discussing their potential to enhance diagnostic precision and aid in planning for delivery and postnatal care.  

This lecture aims to elevate participants’ proficiency in recognizing and assessing anterior abdominal wall defects early on, equipping them with essential knowledge and tools for delivering prompt, precise diagnoses and comprehensive support to affected families.

 

 

First Trimester anomalies other than CVS and CNS

 

The initial trimester of pregnancy serves as a crucial window for identifying a variety of fetal abnormalities that extend beyond just the cardiovascular system (CVS) and central nervous system (CNS). This presentation will delve into the recognition, analysis, and clinical significance of anomalies not related to CVS or CNS, highlighting the use of advanced imaging technologies, diagnostic standards, and management approaches.

 

The Significance of Early Detection: We will start the session by exploring why detecting anomalies in the first trimester is vital for timely interventions and informed counseling. Special attention will be given to recent advancements in high-resolution transvaginal and transabdominal ultrasound techniques, alongside their incorporation into maternal screening processes.

Our discussion will encompass a detailed examination of significant anomalies found in various organ systems, including:

Gastrointestinal (GI) System:

  • Identifying anterior abdominal wall defects like omphalocele and gastroschisis at an early stage.

 

Genitourinary (GU) System:

  • Challenges in diagnosing renal agenesis and hypoplasia in early pregnancy.
  • Megacystis as a sign of lower urinary tract blockage or associated syndromes due to an unusually large fetal bladder.

Musculoskeletal System:

  • Limb anomalies, such as absent or shortened long bones and early signs of skeletal dysplasias.
  • Abnormal postures and contractures that may indicate arthrogryposis or other structural issues.

Face and Neck:

  • Early detection of cleft lip and palate through 3D ultrasound visualization of facial structures.
  • The relevance of cystic hygroma as a potential marker for aneuploidy and syndromic conditions.

 

Soft Tissue and Body Wall Irregularities:

  • Cases of conjoined twins and body-stalk anomaly particularly in monochorionic or multifetal pregnancies.

 

Screening Techniques and Risk Evaluation: This segment will cover advanced screening methods like nuchal translucency (NT), ductus venosus (DV) Doppler assessments, and maternal serum markers for detecting both chromosomal and non-chromosomal anomalies. We will also examine how non-invasive prenatal testing (NIPT) can complement imaging results.

 

Factors Influencing Prognosis and Counseling Approaches: We will provide guidelines on how to interpret first-trimester findings and the importance of early collaborative input from various specialists. Through case studies, we will demonstrate effective counseling strategies for parents, discussing potential outcomes, additional testing options, and considerations for pregnancy management.

 

First Trimester Screening for PE and FGR 

 

Preeclampsia (PE) and fetal growth restriction (FGR) pose serious risks to both mothers and newborns. Recognizing pregnancies at risk early on is essential for applying preventive measures and improving health results. This presentation aims to thoroughly examine first-trimester screening methods for PE and FGR, showcasing the latest in predictive technologies, screening methods, and preventive strategies.  

Understanding PE and FGR: We will start the discussion by delving into the common underlying mechanisms contributing to PE and FGR, including issues with placental development, inadequate trophoblastic invasion, and uteroplacental insufficiency. The significance of grasping these processes for effective screening and intervention will be underscored.  

The talk will outline a data-driven strategy for first-trimester screening of PE and FGR, blending maternal history, biochemical indicators, and biophysical assessments:  

  • Maternal Risk Factors: Evaluating demographic, medical, and obstetric histories as initial risk markers.  
  • Biochemical Indicators: The role of placental growth factor (PlGF) and pregnancy-associated plasma protein A (PAPP-A) in revealing placentation issues.  
  • Biophysical Indicators:  
    • Mean Arterial Pressure (MAP): Standardized methods for precise measurement.  
    • Uterine Artery Doppler: Utilizing the pulsatility index (PI) as an indirect measure of uteroplacental blood flow.  
    • Incorporating Doppler results into risk evaluation models.  

 

We will discuss the benefits of combined screening frameworks, like the Fetal Medicine Foundation (FMF) model, which merges maternal, biochemical, and biophysical data. The necessity for tailored risk evaluations and their consequences for clinical management will be emphasized.  

Preventive Approaches for High-Risk Cases to reduce the likelihood of PE and FGR will be outlined:  

  • Low-Dose Aspirin: Recommendations on when to start, dosage, and timing based on screening findings.  
  • Lifestyle Changes: Encouraging weight control, quitting smoking, and other preventative actions.  
  • Monitoring Practices: The importance of early ultrasounds, Doppler examinations, and regular growth assessments.  

In conclusion, we will highlight the groundbreaking potential of first-trimester screening in alleviating the global impact of PE and FGR. Participants will leave equipped with the knowledge and tools to incorporate advanced screening strategies into their practice, facilitating early detection, targeted prevention efforts, and improved health outcomes.

 

 

 

 

 

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