First-Trimester Ultrasound: A Comprehensive Guide

Description:

This second edition offers a unique and focused study of the use of ultrasound during the first trimester, a critical time in a fetus’ development. It includes basic examination guidelines as well as cutting-edge ultrasound modalities, including Doppler and three-dimensional ultrasound, for the period immediately preceding conception through early embryology.

Fully updated, the text begins with a discussion of the safety and efficacy of diagnostic ultrasound and the use of this modality for the evaluation and treatment of infertility. Recognized experts in the field then explore conditions that may interfere with normal conception or development, including maternal diseases that would benefit from early scanning, elements of teratology, multiple gestations, ectopic pregnancy, gestational trophoblastic disease, fetal anomalies and invasive procedures in the first trimester. This edition includes seven new chapters focusing on the imaging of fetal development, including chapters on the first trimester fetal brain, genitourinary tract, and diagnosis of fetal genetic syndromes. Numerous illustrations, figures, and online videos serve as aides for understanding key concepts.

First-Trimester Ultrasound, 2e is a valuable resource for many, in or after training, in obstetrics and gynecology, radiology, emergency medicine, family medicine and genetics.

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Preface

The preface to the first edition of this book begins with the sentence “There is, to our knowledge, no book dedicated exclusively to the first trimester of pregnancy. The present book, authored by, arguably, the best in their field, comes to fill this void.” While there may now be a few publications dealing with early pregnancy, this second edition greatly expands the previous one. The early stages of pregnancy may be the most important phases of our lives. Both normal and abnormal development are described, including failed pregnancy. A major difference in this second edition: we decided to incorporate separate chapters on the main fetal organs: brain, face and neck, heart, abdomen/gastro-intestinal system, urinary system, and limbs. As in the first edition, the pre-pregnancy period is also considered, as well as embryology notions, maternal diseases that can justify early scanning, elements of teratology, examination guidelines, multiple gestations, genetics concepts (major updates), new rules in the diagnosis of viable and ectopic gestations, gestational trophoblastic disease, invasive procedures, and gynecological incidental findings, as well as chapters on the use of Doppler and three-dimensional ultrasound. The authors, most of whom are among the world leaders in the field of obstetric and gynecologic ultrasound, were again given “literary freedom” to compose their chapters. It is safe to assume that most will not read this book cover to cover in a single session, thus each chapter is independent and will provide information about an entire and, sometimes, expanded topic while some elements may appear in multiple chapters. The book should be helpful to anyone practicing or interested in ultrasound, physicians, sonographers, nurses from several specialties and sub-specialties such as obstetrics and gynecology, maternal-fetal medicine, radiology, emergency medicine (Point-of-Care), and family medicine. We hope that this will be a reference for beginners and advanced users of this technology, students, residents, and fellows in the various health fields.

We are deeply grateful to all the authors for accepting to be part of this endeavor and to Dr. Lawrence (Larry) D. Platt for agreeing to write the foreword to the book. Thank you to all the sonographers with whom we have worked over the years and to our patients and their babies who have taught us so much.

Table of contents :
Foreword
Preface
Contents
Contributors
1: Ultrasound in the First Trimester: How to Keep It Safe
Bioeffects of Ultrasound
Thermal Effects
Non-thermal Effects
The Output Display Standard (OSD)
Ultrasound and the Ovum
Ultrasound in Early Gestation
Fetal Susceptibility to External Insults
Is Doppler Different and Can It Have Detrimental Effects on the Fetus in the First Trimester?
Acoustic Output
3D/4D Ultrasound
Shear Wave Elastography
How to Limit Fetal Exposure and Safety Statements
Conclusions
References
2: How to Optimize the Ultrasound Image
Introduction
Choosing the Best Tools
A Systematic Approach
Basic Knobology
Transducer Selection and the Impact of Frequency
Depth
Sector Width
Gain (Brightness)
Overall Gain
Time Gain Compensation (TGC)
Focus (Focal Zone)
Dynamic Range
Tissue Harmonic Imaging (THI)
Three-Dimensional Imaging
Additional Knobs/Buttons
References
3: Ultrasound and Infertility
Baseline Evaluation
Uterus
Ovaries
Adnexa
Miscellaneous
Advanced Ultrasound Techniques and Reproductive Pathology
Contrast Infusion Sonography for Uterine Cavity Assessment and Tubal Patency Assessment
Follicular Monitoring Ultrasounds
Ultrasound in ART Procedures (Oocyte Retrieval and Embryo Transfer)
Conclusion
References
4: Maternal Co-morbidities and First Trimester Ultrasound Examination
Introduction
Maternal Co-morbidities
Pregestational Diabetes
Obesity
Maternal Conditions Associated with Congenital Heart Defects
Maternal Vascular Disease
Conclusion
References
5: First Trimester Embryology: An Overview
Introduction
Signaling Pathways Identified for Embryologic Development
Development of the Bilaminar Embryo (Weeks 1–2)
Embryonic Weeks 3–4
Formation of the Neural Tube
Formation of the Fetal Brain
Embryonic Weeks 5–8
Development of the Embryonic Cavities and Diaphragm
Development of the Fetal Face
Development of the Respiratory System
Development of the Gastrointestinal Tract
Development of the Urogenital System
Highlights of Cardiac Development
Early Cardiac Development
Cardiac Septae Formation and Valvular Development
Atrioventricular (AV) Septum
Atrial Septum
Ventricular Septum
Aorticopulmonary (AP) Septum
Development of the Lymphatic System
Summary
References
6: Elements of Teratology
Definition
Perception of Teratogenic Risk
Teratogens
Drugs in Pregnancy
Alcohol
Aminopterin
Benzodiazepines
Carbamazepine
Carbon Monoxide Poisoning
Cocaine
Corticosteroids
Diethylstilbestrol (DES)
Lithium
Methotrexate
Methyl Mercury, Mercury Sulfide
Misoprostol
Mycophenolate Mofetil (CellCept)
Polychlorinated Biphenyls
Penicillamine
Phenobarbital
Phenytoin
Systemic Retinoids
Thalidomide
Valproic Acid
Warfarin
Infections
Cytomegalovirus
Parvovirus B19
Rubella
Toxoplasma gondii
Treponema pallidum
Varicella
Zika
COVID-19
Physical Factors
Ionizing Radiation
Non-ionizing Radiation
Ultrasound Waves
Summary
References
7: First-Trimester Ultrasound: Practice Guidelines
Equipment
Safety
Indications and Timing of First-Trimester Ultrasound
Content of the Examination
Assessment of Viability
Pregnancy Location
Fetal Number
Measurements and Determination of Gestational Age
Assessment of Fetal Anatomy
Fetal Aneuploidy Assessment
Other Intrauterine and Extrauterine Structures
First-Trimester Screening for Pre-Eclampsia
Documentation
Training Guidelines
Quality Assurance
Cleaning and Preparing Transducers
Teaching Points
References
8: Normal First Trimester of Pregnancy
Introduction
Gestational Sac
Measurement of the Gestational Sac
Mean Sac Diameter and Viability
Gestational Sac Appearance and β-hCG in Early Pregnancy
Yolk Sac
Embryo
Embryonic and Fetal Cardiac Activity
Multiple Gestations and Chorionicity
Heterotopic Pregnancy
Early Pregnancy Dating
Thresholds for Assessing Viability
Nuchal Translucency Evaluation
Criteria for NT Measurement
Significance of Elevated NT Measurement
Assessment of the Nasal Bone During the NT Evaluation
Significance of Absent Nasal Bone
Screening for Neural Tube Defects at the Time of the NT Evaluation
Normal First Trimester Anatomical Assessment
Fetal Brain in the First Trimester
Face
Thorax
Fetal Heart in the First Trimester
Fetal Kidneys and Urinary Tract System in the First Trimester
Fetal Gastrointestinal Tract in the First Trimester
Abdominal Wall and Umbilical Cord
Fetal Skeleton in the First Trimester
Assessment of Fetal Genitalia in the First Trimester
Assessment of Spine
Role of Three-Dimensional (3D) and Four-Dimensional (4D) Ultrasound
Conclusion
References
9: Screening for Fetal Chromosome Abnormalities
Introduction
Biochemical and Ultrasound Screening for Aneuploidy
Historical Approaches
Second Trimester Maternal Serum Biochemical Screening
First-Trimester Maternal Serum Biochemical Screening
First Trimester Ultrasound Markers for Chromosome and Genetic Anomalies
Integrated and Sequential Screening
Cell Free DNA Screening for Aneuploidy
Aneuploidy Screening in Multiple Gestations
Current Status of Aneuploidy Screening
Nuchal Translucency Ultrasound in the Era of Cell Free DNA Screening
Future Applications of Cell Free DNA Testing
Summary
References
10: Threshold, Discriminatory Zone, and “The New Rules”
Introduction
Threshold Value
Discriminatory Value
The “New Rules” Regarding Early Pregnancy Failure
Conclusion
References
11: Fetal Biometry in Early Pregnancy
Introduction
Biometry
Gestational Sac
Yolk Sac
Crown-Rump Length
Nuchal Translucency
Nasal Bone
Other Biometric Measurements
Conclusion
References
12: The Fetal Heart in Early Pregnancy
Introduction
Basic Description of Cardiac Development
Why Do We Have to Scan the Fetal Heart Early in Pregnancy?
Operator Experience and Route of Ultrasound Examination
When Is the Optimal Time to Perform Early Fetal Cardiac Evaluation?
Practical Recommendations
What Constitutes a Cardiac Scan in the First Trimester?
Color Doppler
Alternatives for an Early Cardiac Scan
Including the 3-VV, 3-VTV, and Outflow Tracts in the Fetal Cardiac Evaluation in the First Trimester of Pregnancy
Indirect Markers for Early Fetal Cardiac Evaluation
Nuchal Translucency and Ductus Venosus
Tricuspid Regurgitation
Cardiac Axis
Aberrant Right Subclavian Artery (ARSA)
Heart-to-Chest Ratio
Detection of Cardiac Anomalies in All Fetuses Undergoing First Trimester Ultrasound
High-Risk Population
Complementary Ultrasound Techniques
4D-Spatio-Temporal Imaging Correlation (STIC)
Evaluation of the Cardiac Function in Early Pregnancy
Precautions When Evaluating Fetuses at 11 to 13+6 Weeks?
Safety
Teaching Points
References
13: Doppler Sonography in Early Pregnancy
Introduction
Doppler Sonography of the Ductus Venosus
Anatomy and Hemodynamics
Doppler Imaging Technique for the Ductus Venosus
Ductus Venosus Doppler Waveforms
Factors Affecting the Ductus Venosus Waveform
Ductus Venosus Doppler in First-Trimester Aneuploidy Screen
Ductus Venosus Doppler Screening for Congenital Heart Disease
Doppler Investigation of Tricuspid Flow in the First Trimester
Doppler Insonation Technique
Tricuspid Flow Pattern
Tricuspid Regurgitation
Tricuspid Doppler Screening for Aneuploidy and Congenital Heart Disease
Biophysical, Biochemical, and Molecular Screening in Early Pregnancy
Doppler Ultrasound Imaging of the Uterine Artery in the First Trimester
Doppler Imaging Technique for the Uterine Artery
Uterine Artery Doppler Waveform
Clinical Applications of the Uterine Artery Doppler
Doppler of the Placental Implantation Site for Early Detection of Placental Accreta Spectrum
Doppler Imaging Technique
First Trimester Ultrasound Markers
References
14: Three-Dimensional Ultrasound: A Role in Early Pregnancy?
Introduction
Instrumentation
Ideal Gestational Age to Perform the Exam
What Can Be Confidently Imaged?
Sonoembryology
4 to 5 Weeks
5 to 6 Weeks
6 to 7 Weeks
7 to 8 Weeks
8 to 9 Weeks
9 to 10 Weeks
Congenital Anomalies That May Be Diagnosed During the Embryonic Period
Body-Stalk Anomaly
Fetal Edema in Early Pregnancy
Acrania-Exencephaly-Anencephaly Sequence
Holoprosencephaly
Early Pleural Effusion
Additional Potential Benefits of 3D US During Early Pregnancy
Chorionic Bump
Determination of Chorionicity and Amnionicity in Multiple Pregnancies
Anomalies Diagnosable During the 11–14 Weeks Scan
Central Nervous System
Sagittal View
Axial Views
Acrania–Exencephaly–Anencephaly Sequence
Holoprosencephaly
Open Spinal Dysraphism (Spina Bifida)
Cervical Spina Bifida
Face
Cleft Lip and Palate
Low-Set Ear in Early Fetuses Examined at 11–14 Weeks
Micrognathia
Heart
Thorax and Abdomen
Urinary Tract
Patent Urachus with Bladder Prolapse
Conclusion
References
15: Multiple Gestations: Multiple Headaches
Introduction
Embryology
Diagnosis
Placentation
Diagnosis of Chorionicity and Amnionicity
Complications
Vanishing Twin
Growth Restriction and Differential Growth
Discordance for Genetic/Structural Anomaly
Complete Hydatidiform Mole and Coexisting Fetus
Complications Specific for MC Twins
Twin-to-Twin Transfusion Syndrome (TTTS)
Twin Anemia Polycythemia Syndrome (TAPS)
Twin Reversed Arterial Perfusion (TRAP) Syndrome
Conjoined Twins
Cord Entanglement
Screening for Genetic and Morphologic Abnormalities
Maternal Complications
Higher Order Multiple Gestations
Invasive Diagnostic/Therapeutic Procedures in Twins
References
16: First-Trimester Ultrasound: Early Pregnancy Failure
Introduction
Definitions
Risk Factors for Failure
Chemical Evidence of Pregnancy Failure
Ultrasound Characteristics of Early Pregnancy
Imaging of the Early Pregnancy
Ultrasound Evidence of Pregnancy Failure
Gestational Sac
Location
Appearance
Size/Growth
Prognosis of a Gestational Sac
Amnion
Placenta/Chorionic Frondosum
Vaginal Bleeding
Hematoma
Chorionic Bump
Vascular Pattern
Yolk Sac
Appearance
Embryo
Embryonic Motion
Location
Appearance
Size/Growth Rate
Anatomy
Embryonic Heart Rate
Retained Products of Conception
Ultrasound Evaluation
Color Doppler Imaging
Recurrent Pregnancy Loss
Summary
References
17: Ectopic Pregnancy and Pregnancy of Unknown Location (PUL)
Introduction
Pregnancy of Unknown Location
Human Chorionic Gonadotropin (hCG) Dynamics
Threshold and Discriminatory Levels of hCG
Threshold Level
Discriminatory Level
Endometrial Findings in Ectopic Pregnancy
Endometrial Thickness
Intrauterine Fluid
Adnexal Findings in Ectopic Pregnancy
Workup for Ectopic Pregnancy
An Argument for Ultrasound First, Tubal Rupture Below the Threshold Level
Spontaneous Resolution of Pregnancy
Unusual Ectopic Pregnancies
Heterotopic Pregnancy
Interstitial Pregnancy
Cornual Pregnancy
Angular Pregnancies
Ovarian Pregnancy
Abdominal Pregnancy
Cervical Pregnancy
Cesarean Scar Pregnancies
Summary
References
18: Cesarean Scar Pregnancy: A Baby Placenta Accreta
Introduction/Terminology
Background
What Is a Cesarean Scar Pregnancy?
Incidence/Risk Factor
Pathogenesis of CSP
Diagnosis of Cesarean Scar Pregnancy
Differential Diagnosis of CSP
The Connection Between CSP and PAS
PAS in the First Trimester?
Counseling Patients with a First-Trimester CSP
Management of Cesarean Scar Pregnancy
Treatment Options Available for CSP
Summary and Conclusion
References
19: The First-Trimester Fetal Head and Brain
Introduction
What Normal and/or Abnormal Fetal Structures Can Be Reliability Detected at This Gestational Age?
Normal Fetal Head-Brain Anatomy
Pathologies of the First-Trimester Fetal Brain
Neural Tube Defects
Exencephaly-Anencephaly Sequence
Cephalocele
Open Spina Bifida
Midline Developmental Anomalies
Holoprosencephaly
The Face
Absent Nasal Bone, Cleft Lip ± Palate, Cataracts, Micrognathia
Conclusion
References
20: Fetal Face and Neck
Introduction
Orbits
Hypertelorism
Hypotelorism (Cyclopia)
Microphthalmia/Anophthalmia
Cataracts
Nose
Arrhinia
Proboscis
Absent Nasal Bone
Chin and Mouth
Micrognathia and Retrognathia
Agnathia
Macroglossia
Epignathus
Lips and Palate
Orofacial Cleft
Paramedian Orofacial Cleft
Median Facial Cleft
Ears
External Ear (Pinna/Auricle) Anomalies
Anotia
Microtia
Macrotia (Large Ears)
Melotia (Low-Set Ears)
Otocephaly
Tumors of the Face and Neck
Frontal Encephalocele
Cystic Hygroma
Other Important Neck Masses and Tumors
References
21: Fetal Gastrointestinal and Abdominal Wall Imaging
Introduction
Embryology
Esophagus
Esophageal Atresia
Stomach
Right-Sided Fetal Stomach
Bowel, Liver, and Gallbladder
Echogenic Bowel
Duodenal Atresia
Anorectal Atresia
Abdominal Cysts
Abdominal Wall
Physiologic Midgut Herniation (Umbilical Hernia)
Omphalocele
Gastroschisis
Limb-Body Stalk Anomaly
Conclusion
References
22: First-Trimester Genitourinary Development and Anomalies
Introduction
Fetal Renal Size, Presence, and Location
Hydronephrosis/Pyelectasis
Cystic Renal Disease
Fetal Bladder Abnormalities
Abnormalities of the Fetal Genitalia
Genetic Evaluation
Conclusion
References
23: Fetal Skeletal Anomalies
Introduction
Skeletal Dysplasias
Arthrogryposis Multiplex Congenita
Cranial Anomalies
Spinal Anomalies
Extremities
Polydactyly
Clubfoot
Limb Reduction Defects
Summary
References
24: First-Trimester Ultrasound in Gestational Trophoblastic Disease
Introduction
Ultrasound in the Diagnosis of Molar Pregnancy
Classic Sonographic Findings of Molar Pregnancy
Ultrasound Diagnosis of Early Molar Pregnancy
Sensitivity of Ultrasound in Detecting Molar Pregnancy
Mimics of Molar Pregnancy
Color Doppler Ultrasound in Diagnosis of Molar Pregnancy
Uterine Artery Doppler Measurement in Molar Pregnancy and Development of GTN
Ultrasound in the Diagnosis and Management of Ovarian Theca Lutein Cysts
Ultrasound in the Diagnosis of Molar Pregnancies with a Coexistent Twin
Ultrasound in the Evacuation of Molar Pregnancy
Ultrasound in the Diagnosis and Management of GTN
Ultrasound to Assess Presence and Volume of Intrauterine Disease
Ultrasound Evaluation for Postmolar GTN
Color Doppler in Diagnosis of GTN
Ultrasound in the Follow-Up of Molar Pregnancy and GTN
Use in Determining the Need for Surgical Intervention
Uterine Artery Pulsatile Index as a Predictor of Chemotherapy Resistance in GTN
GTN-Related Arteriovenous Malformations
Ultrasound for the Evaluation of Subsequent Pregnancies
References
25: Invasive Procedures in the First Trimester
Introduction
Chorionic Villus Sampling
Indications
Multiple Gestations
Procedure
Safety
Complications of Chorionic Villous Sampling
Bleeding
Infection
Rupture of Membranes
Risk of Fetal Abnormalities Following Chorionic Villous Sampling
Perinatal Complications
Long-Term Infant Development
Accuracy of CVS Cytogenetic Results
Maternal Cell Contamination (MCC)
Confined Placental Mosaicism
Early Amniocentesis
Post-procedure Amniotic Fluid Leakage
Fetal Reduction
Summary
References
26: Sonography of Pelvic Masses Associated with Early Pregnancy
Clinical Implications
Techniques
Uterine Masses
Fibroids
Adnexal Masses
Corpus Luteum
Corpus Luteum Cysts
Hemorrhagic Corpus Luteum Cysts
Decidualized Endometriomas
Mature Teratomas
Ovarian Cancer
Abdominal Mimickers
Summary
References
Index