Fetal Medicine: An Illustrated Textbook

 

Description:

Evidence-based clinical guidelines are designed to provide systematically developed recommendations to assist clinicians and their patients in making decisions about appropriate treatment for specific conditions. While these may often be widely available, nowhere are they collated into a single, practical text. This book will fill this need for those working in maternal-fetal medicine, comprehensively covering the conditions, diagnostic and therapeutic challenges faced by those working in fetal care. Presented in highly illustrated, algorithm format with fetograms and autopsy correlations included, this book will aid in the diagnosis, investigation, counselling and therapeutic options for the management of fetal abnormalities and disorders.

 

Table of Contents:

 

Chapter 1 Fetal Anatomy: First Trimester Assessment

Head and Neck

Anatomy Assessment

Abnormal Skull

Acrania-Exencephaly-Anencephaly Sequence (Fig. 1.5)

Definitions and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Skull Defects

Definitions and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Isolated Meningocele

Encephalocele

'Butterfly Sign' Is Absent

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Intracranial Translucency Is Absent

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Intracranial Translucency Is Enlarged

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Nasal Bone Is 'Absent'

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Micrognathia Is Suspected

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Cleft Lip and Palate Are Suspected

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Large Nuchal Translucency

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Jugular Lymphatic Sacs

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Cystic Hygroma

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Heart

Anatomy Assessment

Ultrasound Assessment

Significant Heart Abnormality Should Be Suspected If

Investigations

Counselling

Abnormal Four-Chamber View

Abnormal Three-Vessel View

Aberrant Right Subclavian Artery (ARSA)

Definition and Characteristics

Ultrasound Assessment

Counselling

Chest

Anatomy Assessment

Mediastinal Shift

Ultrasound Assessment

Investigations

Counselling

Pleural Effusion

Definitions and Characteristics

Ultrasound Assessment

Investigations

Counselling

Spine

Anatomy Assessment

Meningomyelocele, Meningocele

Ultrasound Assessment

Investigations

Counselling

Abdomen

Anatomy Assessment

Exomphalos

Definition and Characteristics

Ultrasound Assessment

Investigation

Counselling

Gastroschisis

Definition and Characteristics

Ultrasound Assessment

Counselling

Ectopia Cordis, Pentalogy of Cantrell or Body Stalk Anomaly?

Definitions and Characteristics

Ultrasound Assessment

Counselling

Genitourinary System

Anatomy Assessment

Bladder Is Large (Megacystis)

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Skeletal System

Anatomy Assessment

Limb Abnormalities

Definition and Characteristics

Ultrasound Assessment

Investigation

Counselling

Short Femur

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Hydrops

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Placenta and Umbilical Cord

Anatomy Assessment

Single Umbilical Artery

Definition and Characteristics

Ultrasound Assessment

Counselling

Umbilical Cysts

Definition and Characteristics

Ultrasound Assessment

Counselling

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 2 Screening for Common Chromosomal Abnormalities and Other Genetic Conditions

Background Information

Test Accuracy Statistics

Ultrasound in the Context of Genetic Screening

Pre-test Ultrasound

Post-test Ultrasound

Which Screening Test to Choose?

High Risk Combined First Trimester Screening

Risk Calculation

Interpretation and Counselling

Non-invasive Prenatal Testing

Methodology

Low Fetal Fraction and Non-reportable NIPT (No Call)

Fetal Fraction

Non-reportable Result (No-Calls)

Retest ('Redraw')

Invasive Testing

NIPT Testing for Single-Gene Disorders

NIPT Counselling

Second Trimester Biochemistry Screening

Invasive Testing

Screening Test Declined

Second Trimester Ultrasound Markers

Screen negative women without ultrasound markers at 20 weeks' scan

Screen negative women with a single ultrasound marker at 20 weeks' scan

Screen negative women with two or more ultrasound markers at 20 weeks' scan

Women with ultrasound markers at 20 weeks' scan who declined first trimester screening

Multiple Pregnancy

NIPT

Serum Biochemistry

Higher-Order Multiples

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 3 Fetal Anatomy: Second and Third Trimester Assessment

Chapter 3.1 Head and Neck

Anatomy Assessment

Abnormal Skull

Anencephaly

Ultrasound Assessment

Investigations

Counselling and Management

Bony Defects in Cranium

Ultrasound Assessment

Investigations

Counselling and Management

Abnormal SKULL Shape

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Abnormal SKULL Mineralisation

Ultrasound Assessment

Investigations

Counselling and Management

Abnormal Midline Division of the Cerebral Hemispheres

Definition and Characteristics

Ultrasound Assessment

Alobar Holoprosencephaly

Semilobar Holoprosencephaly

Lobar Holoprosencephaly

Septo-optic Dysplasia

Investigations

Counselling

Abnormal Cavum Septum Pellucidum Including Agenesis of Corpus Callosum

Definition and Characteristics

Absent CSP: Possible Agenesis of Corpus Callosum (ACC)

CSP Is Short or Thin: Possible Partial ACC

Investigations

Counselling

Cortical Malformations Including Abnormal Sylvian Fissure

Definitions and Characteristics

Investigations

Counselling and Management

Abnormal Head Circumference

Large Head Circumference

Small Head Circumference

Ventriculomegaly

Description and Characteristics

Ultrasound Assessment

Investigations

Counselling

Interhemispheric Cysts

Arachnoid Cysts

Vein of Galen Aneurysm

Cavum Vergae Cyst

Cavum Veli Interpositi Cyst

Dilated Suprapineal Recess

Investigations

Counselling and Management

Intraparenchymal Cysts

Porencephalic Cysts

Subependymal Pseudocysts

Investigations

Counselling and Management

Choroid Plexus Cysts

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Brain Tumours

Enlarged Posterior Fossa

Dandy-Walker Malformation

Description and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Blake's Pouch Cyst

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Mega Cisterna Magna

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Dural Sinus Thrombosis

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Abnormal Cerebellum

Rhomboencephalosynapsis

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Vermian Hypoplasia

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Joubert Syndrome

Common Abnormal Cranial Ultrasound Findings with Differential Diagnosis

Cleft Lip and Palate

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Abnormal Eyes

Microphthalmia or Anophthalmia

Orbits Displaced Laterally (Hypertelorism)

Investigations

Counselling

Reduced Intra-orbital Diameter (Hypotelorism)

Cataracts

Definition and Characteristics

Ultrasound Assessment

Counselling

Dacrocystocele

Definition and Characteristics

Ultrasound Assessment

Counselling

Abnormal Ears

Microtia/Anotia

Low-Set Ears

Abnormal Profile

Micrognathia

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Prenasal Oedema

Neck Masses

Fetal Goitre

Definition and Characteristics

Hypothyroid Goitre

Hyperthyroid Goitre

Ultrasound Assessment

Investigations

Counselling and Management

Fetal Hypothyroidism

Fetal Hyperthyroidism

Tumours

Ultrasound Assessment

Counselling and Management

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 3.2 Fetal Heart

Anatomy Assessment

Cardiac Biometry

Cardiac Rhythm Assessment

Pulsed Wave Doppler

M-Mode

Situs Abnormalities

Cephalic Presentation: Transverse Planes

Breech Presentation: Transverse Planes

Situs Inversus Totalis

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Heterotaxy

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Abnormal Heart Axis

Shift to the Left

Shift to the Right (Mesocardia)

Abnormal Heart Size

Cardiomegaly

Increased Cardiothoracic Ratio without Cardiomegaly

Abnormal Atria

Redundant Septum Primum Flap

Counselling

Flap of Foramen Ovale in the Right Atrium

Dilated Coronary Sinus

Counselling

Abnormal Ventricles

Ventricular Septal Defects

Ultrasound Assessment

Investigations

Counselling

Atrioventricular Septal Defects

Description and Characteristics

Ultrasound Assessment

Investigations

Counselling

Ventricular Asymmetry

Intracardiac Echogenic Foci

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Rhabdomyoma

Definition and Characteristics

Ultrasound Assessment

Differential Diagnosis

Investigations

Counselling

Abnormal Systemic Veins

Persistent Left SUPERIOR VENA CAVA (SVC) Draining into Coronary Sinus

Ultrasound Assessment

Investigations

Counselling

Absent Right SVC with PERSISTENT LEFT SVC

Ultrasound Assessment

Investigations

Counselling

Interrupted INFERIOR VENA CAVA (IVC)

Ultrasound Assessment

Investigations

Counselling

Abnormal Pulmonary Veins

Total Anomalous Pulmonary Venous Connection (TAPVC)

Description and Characteristics

Key Ultrasound Features

Supracardiac TAPVC

Cardiac TAPVC

Infracardiac TAPVC

Investigations

Counselling

Abnormal Three Vessel View

Fourth Vessel Seen: Coronary Sinus Visible

Counselling

Fourth Vessel Seen: Coronary Sinus Not Visible

Counselling

Only Two Vessels Seen

Three Vessels: Abnormal Arrangements

Counselling

Three Vessels: Abnormal Alignments and Arrangement

Three Vessels: Abnormal Size

Abnormal Three Vessel Trachea View

Right Aortic Arch with Left Ductus

Investigations

Counselling

Right Aortic Arch with Right Ductus

Investigations

Counselling

Double Aortic Arch

Investigations

Counselling

Midline Descending Aorta

Investigations

Counselling

Tortuous Ductus

Investigations

Counselling

Abnormal Cardiac Rate and Rhythm

Definition and Characteristics

Ultrasound Assessment

Pulsed Wave Doppler Assessment

M-Mode Assessment

Counselling

Common Antenatally Diagnosed Cardiac Anomalies

Hypoplastic Left Heart Syndrome

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Hypoplastic Right Heart Syndrome

Description and Characteristics

Key Ultrasound Features

Intact Ventricular Septum

With Ventricular Septal Defect

Differential Diagnosis

Investigations

Counselling

Tetralogy of Fallot

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Double Outlet Right Ventricle

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Transposition of the Great Arteries

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Corrected Transposition of the Great Arteries

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Critical Aortic Stenosis

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Common Arterial Trunk

Description and Characteristics

Key Ultrasound Features

Differential Diagnosis

Investigations

Counselling

Suggested Reading

Reviews and Guidelines

Chapter 3.3 Thoracic and Pulmonary Abnormalities

Anatomy Assessment

Diaphragmatic Hernia

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Pleural Effusions

Definitions and Characteristics

Ultrasound Assessment

Investigations

Counselling

Anomalies of Lung Parenchyma

Definitions and Characteristics

Ultrasound Assessment

Investigations

Counselling

Absent Thymus

Definitions and Characteristics

Ultrasound Assessment

Investigations

Counselling

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 3.4 Spine

Anatomy Assessment

Ultrasound Evaluation

Open Lesions with or without Bulging 'Cyst'

Open Spina Bifida

Definition and Characteristics

Ultrasound Assessment

Head

Spine

Investigations

Counselling and Management

Craniorachischisis

Definition and Characteristics

Ultrasound Features

Investigations

Counselling and Management

Skin-Covered Lesions

Skin-Covered Meningocele

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Closed Spina Bifida

Definition and Characteristics

Ultrasound Features

Investigations

Counselling and Management

Hemivertebrae

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Split Cord - Diastematomyelia

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Sacrococcygeal Teratoma

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Suggested Reading

Primary Research

Chapter 3.5 Abdomen

Anatomy Assessment

Abdominal Wall

Exomphalos

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Small Isolated Exomphalos

Large Defects

Gastroschisis

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Intra-abdominal Masses

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Hyperechogenic Bowel

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Dilated Loops of Bowel

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Liver

Hepatomegaly

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Absent Ductus Venosus

Definition and Characteristics

Ultrasound Assessment

Investigation

Counselling and Management

Hepatic Calcifications

Definition and Characteristics

Ultrasound Assessment

Investigation

Counselling and Management

Suggested Reading

Chapter 3.6 Genitourinary Tract

Anatomy Assessment

Kidneys

Ureters

Bladder

Kidney(s) Not Visible

Unilateral Agenesis

Definition and Characteristics

Ultrasound Assessment

Investigations

Management and Counselling

Bilateral Agenesis

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Distorted Renal Anatomy

Duplex Kidney

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Horseshoe Kidney

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Pelvic Kidney

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Renal Cysts

Multicystic Dysplastic Kidney Disease

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Unilateral MCDK

Bilateral MCDK

Obstructive Uropathy

Complex Cysts

Abnormal Size and Echogenicity

Large Bright Kidneys

Differential Diagnosis

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Other Causes

Ultrasound Assessment

Investigation

Counselling

Bright Kidneys, Normal Size

Small Kidneys

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Excess Fluid in the Renal Tract

Renal Pelvis Dilatation and Hydronephrosis

Definition and Characteristics

Ultrasound Assessment

Investigations

Management and Counselling

Dilated Ureter(s) with Normal Bladder

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Abnormal Bladder

Distended Bladder

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Small or Not Visible Bladder

Bladder Exstrophy

Definition and Characteristics

Ultrasound Assessment

Invasive Testing

Management and Counselling

OEIS Complex (Cloacal Exstrophy)

Definition and Characteristics

Ultrasound Assessment

Investigations

Management and Counselling

Other Causes

'Double Ring' within Bladder (Ureterocele)

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling

Genitalia Appear Ambiguous

Definition and Characteristics

Ultrasound Assessment

Investigations

46XY But Not Clearly Male Phenotype

46XX But Not Clearly Female Phenotype

Management and Counselling

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 3.7 Skeletal Anomalies

Antenatal Diagnostic Work-Up

Skeletal Dysplasias Most Commonly Diagnosed Antenatally

Achondrogenesis

Achondroplasia

Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Ellis-Van Creveld Syndrome

Hypophosphatasia

Osteogenesis Imperfecta

Short Rib Polydactyly Syndrome

Spondylocostal Dysplasia (Jarcho-Levin Syndrome)

Thanatophoric Dysplasia

Abnormal Feet

Talipes (Club Foot)

Rocker Bottom Foot

Is Karyotyping Indicated?

Isolated Short Femur

Differential Diagnosis

Look for the Features:

Absent Radius

Differential Diagnosis

Limb Reduction Defects

Diagnosis and Characteristics

Look for Phenotypic Characteristics

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 4 Small for Gestational Age (SGA) and Fetal Growth Restriction

Definitions and Characteristics

Maternal Risk Factors

Fetal Causes

Initial Ultrasound Assessment

Investigations

Management

<24+0 Weeks, Structurally Normal, No Evidence of Fetal Infection

24+0 to 32+0 Weeks, Structurally Normal, No Evidence of Fetal Infection

>32+0 Weeks, Structurally Normal, No Evidence of Infection

Fetal Monitoring

Frequency of Assessments

Indications for Delivery

Labour and Delivery

Suggested Reading

Chapter 5 Large for Gestational Age (LGA) Fetus

Definitions and Detection

Maternal Risk Factors

Fetal Risk Factors

Investigations

Counselling and Management

Suggested Reading

Chapter 6 Rhesus Disease

Definitions and Presentation

Investigations

Antenatal Management

Fetus Is Antigen Positive or Father Is Homozygous, But There Is No History of Immune Anaemia

Fetus Antigen Is Positive or Father Is Homozygous with History of Immune Anaemia

MCA PSV > 1.5 MoM or Fetal Ascites

How to Time a Follow-Up Intrauterine Transfusion

Second Transfusion

Subsequent Transfusions

Neonatal Management

Suggested Reading

Chapter 7 Fetal Alloimmune Thrombocytopenia

Definition and Presentation

Pre-pregnancy Counselling

Investigations

Management

Previously Affected Child Without Intracranial Haemorrhage

Treatment

Monitoring

Labour and Delivery

Previously Affected Child with Intracranial Haemorrhage

Treatment

Monitoring

Labour and Delivery

Fetus with Newly Diagnosed Intracranial Haemorrhage

Suggested Reading

Chapter 8 Hydrops in Second and Third Trimester

Definition and Characteristics

Initial Ultrasound Assessment

Investigations

Maternal Investigations

Fetal Investigations

Cytology

Biochemistry

Management and Counselling

Raised MCA Doppler

Differential Diagnosis

Counselling

Normal MCA Doppler

Differential Diagnosis

Counselling

Suggested Reading

Primary Research

Chapter 9 Abnormal Placenta

Placental Size

Large Placenta

Mother

Fetus

Small Placenta

Abnormal Texture

Placental Haematoma

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Placental Lakes

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Placenta Accreta Spectrum

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Chorioangioma

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Placental Teratoma

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Placental Mesenchymal Dysplasia

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Molar-Looking Placenta with a Live Fetus

Definition and Characteristics

Ultrasound Assessment

Investigations

Karyotype Is Abnormal

Counselling and Management

Anatomy, Karyotype and hCG Are All Normal

Differential Diagnosis

Ultrasound Assessment

Investigations

Counselling and Management

Normal Fetal Anatomy and Karyotype but hCG Is High (3 MoM)

Differential Diagnosis

Counselling and Management

Calcifications

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Abnormal Shape

Circumvallate (Surrounded) Placenta

Definition and Characteristics

Ultrasound Appearance

Counselling and Management

Succenturiate (Accessory) Lobe

Definition and Characteristics

Ultrasound Appearance

Counselling and Management

Abnormal Location

Low-Lying Placenta

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Suspected Caesarean Scar Pregnancy

Definition and Characteristics

Diagnostic Criteria

Clinically Unstable

<12+0 Weeks

>12+0 Weeks

Clinically Stable (Asymptomatic or Mild Symptoms) - NO LIVE FETUS

Transcervical Suction Curettage

Clinically Stable (Asymptomatic or Mild Symptoms) - LIVE FETUS

<14+0 Weeks

14-24 Weeks

>24 Weeks

Future Pregnancies

Abnormal Placental Histology

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 10 Umbilical Cord Abnormalities

Single Umbilical Artery

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Umbilical Cord Cyst

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Cord Knots

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Nuchal Cord

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Cord Tumours

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Vasa Praevia

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Velamentous Cord Insertion

Definition and Characteristics

Ultrasound Assessment

Counselling and Management

Marginal Cord Insertion

Definition

Ultrasound Assessment

Counselling and Management

Hyper/Hypocoiling of the Umbilical Cord

Definition

Counselling

Primary Research

Suggested Reading

Reviews and Guidelines

Chapter 11 Amniotic Fluid Abnormalities

Polyhydramnios

Definition and Characteristics

Causes

Ultrasound Assessment

Investigations

Counselling and Management

Oligohydramnios

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Anhydramnios

Definition and Characteristics

Ultrasound Assessment

Investigations

Counselling and Management

Non-obstructive Renal Causes

Obstructive Renal Causes (LUTO)

PPROM

Preterm Prelabour Rupture of Membranes (PPROM)

Definition and Characteristics

PPROM <22+0 Week (Previable)

Counselling and Management

PPROM 22+0 to 25+6 Weeks (Borderline Viability)

Ultrasound Assessment

Investigations

Counselling and Management

PPROM ≥26+0 Weeks (Viable)

Counselling and Management

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 12 Multiple Pregnancy

Twins

Zygosity, Chorionicity, Amnionicity

Zygosity

Chorionicity

Defining Chorionicity and Amnionicity

What if Chorionicity Was Not Defined by 13+6 Weeks' Gestation?

Dating and Labelling

Pregnancy Dating

Labelling Fetuses

Aneuploidy Screening

Combined First Trimester Screening (11+0 to 13+6 Weeks GA)

Procedure

Interpretation for DCDA Twins

Interpretation for MCDA Twins

cffDNA Prenatal Testing (NIPT)

'No Call' Result

Fetal Fraction

Vanishing Twin

Invasive Testing

DCDA

MCDA

Management of DCDA Twins

What to Look For?

Pregnancy Loss

Structural Anomalies

Fetal Growth Restriction

Preterm Births

Ultrasound Surveillance

20 Weeks Scan

Follow-up Scans Every 4 Weeks

Timing of Delivery

DCDA with Selective Fetal Growth Restriction (sFGR)

Definition

Management and Counselling

DCDA with Structural Abnormalities

Management of MCDA Twins

What to Look For?

Pregnancy Loss

Structural Anomalies

Fetal Growth Restriction

Twin-Twin Transfusion Syndrome

Twin-Arterial Perfusion Syndrome (TAPS)

Preterm Births

Ultrasound Surveillance

Timing and Mode of Delivery

Acute TTTS

Definitions and Classification

Quintero Stage 1

Quintero Stages 2-4

Quintero Stage 5

Twin Anaemia Polycythaemia Sequence (TAPS)

Definition

Management and Counselling

MCDA with Selective Fetal Growth Restriction (sFGR)

Definition of sFGR

sFGR type 1

Definition

Management and Counselling

sFGR type 2

Definition

Management and Counselling

sFGR type 3

Definition

Management and Counselling

MCDA Twins with Structural Malformations

Management and Counselling

Management of MCMA Twins

What to Look For?

Pregnancy Loss

Structural Anomalies

Fetal Growth Restriction

Twin-Twin Transfusion Syndrome (TTTS/TOPS)

Twin-Arterial Perfusion Syndrome (TAPS)

Preterm Births

Ultrasound Surveillance

12-24 Weeks

24-32 Weeks

Management and Counselling

Twin Reversed Arterial Perfusion (TRAP) Sequence

Definition

Ultrasound Assessment

Management and Counselling

Conjoined Twins

Definition

Ultrasound Assessment

Management and Counselling

Triplets (and Higher-Order Multiples)

Ultrasound Assessment in the First Trimester

Ultrasound Surveillance

Selective Reduction

Aneuploidy Screening

Management and Counselling

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 13 Short Cervix in Asymptomatic Women

Indications for Cervical Length Measurement

Established Indications

Relative Indications

Correct Technique

Low-Risk Singleton Pregnancy with Short Cervix

Management

Cervical Length ≥10-24 mm

Cervical Length

Counselling

Singleton Pregnancy with Risk Factors for Preterm Birth and Short Cervix

Management

Cervical Length ≥10 mm

Cervical Length

Counselling

Twins with Short Cervix

Management

Cervical Length

Dilated External Os/Prolapsed Membranes

Counselling

Suggested Reading

Chapter 14 Fetal Infections

Cytomegalovirus

Mother

Fetus

Interpretation of Maternal Serology

Clinical Presentation

Maternal Seroconversion Detected before 16 Weeks with a Normal Initial Scan

Management

Counselling

CMV PCR Negative (~70%)

CMV PCR Positive (~30%)

Maternal Seroconversion Detected after 16 Weeks with a Normal Initial Scan

Management

Counselling

CMV PCR Negative

CMV PCR Positive

Confirmed Fetal Infection with Non-severe Brain Signs or Extra Cerebral Signs

Non-severe Brain Signs on Ultrasound/MRI

Extracerebral Signs

Counselling

Confirmed Fetal Infection with Severe Brain Signs

Severe Brain Signs on Ultrasound/MRI

Counselling

Parvovirus B19

Mother

Fetus

Interpretation of Maternal Serology

PCR for Viral DNA

Clinical Presentation

Confirmed Recent Maternal Infection and Normal MCA PSV (≤1.5 MoM)

Counselling

Confirmed Recent Maternal Infection and Raised MCA PSV (>1.5 MoM) with or without Ascites/Hydrops

Counselling

Chickenpox (Varicella Zoster)

Mother

Fetus

Prevention for Susceptible Pregnant Women Who Have Had a High-Risk Exposure

Interpretation of Maternal Serology

Maternal Infection during Pregnancy

Management

Counselling

Rubella

Mother

Fetus

Interpretation of Maternal Serology

Clinical Presentation

Maternal Infection 20 Weeks

Management

≤10+0 Weeks

10-20 Weeks

Counselling

Confirmed Maternal Infection 20 Weeks

Measles

Mother

Fetus

Interpretation of Maternal Serology

Maternal Infection during Pregnancy

Zika Virus

Mother

Fetus

Testing Protocol

Clinical Presentation

Positive or Inconclusive Maternal Serology and Normal Ultrasound Scan

Management

Counselling

Ultrasound Suggestive of Congenital Zika Syndrome

Management

Counselling

Toxoplasmosis

Mother

Fetus

Interpretation of Maternal Serology

Clinical Presentation

Maternal Seroconversion with Normal Initial Scan

Management

PCR Negative

PCR Positive

Counselling

PCR Positive Fetus with Ultrasound/MRI Signs of Infection

Management

Counselling

Syphilis

Mother

Risk of Fetal Infection

Affected Fetus

Diagnostic Tests for Syphilis

Treponemal Tests

Non-treponemal Tests

Clinical Presentation

Newly Diagnosed Untreated Syphilis

Adequately Treated Previous Infection and Normal 20 Weeks Scan

Suggested Reading

Cytomegalovirus

Parvovirus B19

Rubella

Measles

Zika

Toxoplasmosis

Syphilis

Chapter 15 Drugs in Pregnancy and Teratogenesis

Definitions and Phases of Exposure

Susceptibility of a Fetus to a Teratogenic Insult

Preimplantation Exposure

Example

Embryonic Exposure

Example

Fetal Exposure

Example

Classifications

The US Food and Drug Administration (FDA)

The Australian Therapeutic Goods Administration (TGA)

Counselling Regarding Drug Use in Pregnancy and Teratogenic Potential

Teratogens

Antibiotics

Anticoagulants

Antidepressants

Antipsychotics and Mood Stabilisers§

Antiepileptics

Antihypertensives

Autoimmune Disease Drugs

Chemotherapy Agents

Breast Cancer

Ovarian Cancer

Cervical Cancer

Haematological Cancers

Skin Cancer

Abortifacients§

Substance Misuse

Vitamins

Ionising Radiation

Suggested Reading

Chapter 16 Ultrasound Guided Invasive Diagnostic and Therapeutic Procedures

General Principles

Counselling

Antiseptic Procedures

Technique

Post-Procedure Management

Chorionic Villus Sampling

Indications

Gestational Age

Procedure-Related Risk

Transabdominal or Transvaginal Approach?

Transabdominal Technique

Multiple Pregnancy

What Is an Adequate Sample?

Amniocentesis

Indications

Gestational Age

Procedure-Related Risk

Technique

Fetal Blood Sampling

Indications

Procedure-Related Risks

Gestational Age

Technique

Post-Procedure Management: Procedure-Specific Points

Fetal Taps

Indications

Gestational Age

Procedure-Related Risks

Post-Procedure Management: Procedure-Specific Points

Amniodrainage and Amnioinfusion

Indications

Amniodrainage

Amnioinfusion

Procedure-Related Risks

Technique

Fetal Blood Transfusion

Indications

Gestational Age

Procedure-Related Risks

Blood Products for Transfusion

Preparation

Technique

Fetal Monitoring during Procedure

Fetal Monitoring after Procedure

Post-Procedure Management: Procedure-Specific Points

Vesico-amniotic Shunt

Investigations

Counselling

Arguments in Favour of Vesico-amniotic Shunt

Arguments Against Vesico-amniotic Shunt

Technique

Preparation

Post-Procedure Management: Procedure-Specific Points

Pleuro-amniotic Shunts

Investigations

Counselling

Arguments in Favour of Shunting

Arguments Against Shunting

Technique

Post-Procedure Management

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 17 Fetoscopy and Ultrasound Guided Thermal Therapeutic Procedures

Introduction

Indications

Laser Fetoscopy

Monochorionic Twins

Singletons

Radiofrequency Ablation

Bipolar Cord Coagulation

Interstitial Laser

Pre- and Post-Procedure Management

General Principles

Maternal Preparation

Post-Procedure Management

Instruments and Technique

Laser Fetoscopy

Standard Instruments

Integrated Scopes

Optics

Laser

The Theatre Setup

Technique

Limitations for Fetoscopic Laser Surgery

Radiofrequency Ablation

Instruments

Temperature-Controlled System

Impedance-Controlled System

Technique

Limitations

Bipolar Coagulation

Instruments

Technique

Limitations

Interstitial Laser

Instruments

Technique

Limitations

Interventions for Complicated Twins

Laser Fetoscopy for Twin-Twin Transfusion Syndrome

Technique: Specific Considerations

Counselling

Selective Fetal Growth Restriction

Isolated sFGR – No TTTS (Type 2/3)

Technique: Specific Considerations

Counselling

sFGR with TTTS

Technique: Specific Considerations

Counselling

Twin Anaemia Polycythaemia Sequence (TAPS)

Technique

Counselling

Fetoscopic Tracheal Occlusion for Congenital Diaphragmatic Hernia (FETO)

Indication

Balloon Insertion Technique

Balloon Removal

Counselling

Interventions for Chorioangioma

Indications

Technique

Counselling and Management

Fetal Cystoscopy

Indication

Technique

Counselling

Suggested Reading

Primary Research

Reviews and Guidelines

Chapter 18 Fetal Surgery for Spina Bifida

Rationale

Counselling

Potential Benefits of In Utero Surgery

Risks of Fetal Surgery*

Inclusion Criteria

Fetal

Maternal

Exclusion Criteria

Maternal

Fetal

Preoperative Assessment

Ultrasound

MRI

Genetic Testing

Technique

Open Surgery via Hysterotomy

Laparoscopic Approach

Suggested Reading

Chapter 19 Genetic Syndromes

Definitions

Syndrome

Association

Sequence

Prenatal Phenotyping

Acrocallosal Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Aicardi Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Aicardi Goutieres Syndrome (AGS)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Apert Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Arthrogryposis Multiplex Congenita (AMC)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Bannayan-Riley-Ruvalcaba Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Bartsocas-Papas Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Bartter Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Beckwith-Wiedemann Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Binder Phenotype or Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Bloom Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Caudal Regression Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Cerebro-Oculo-Facio-Skeletal Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

CHARGE Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Ciliopathies

Bardet-Biedl Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Ellis-van Creveld Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Jeune Syndrome (Asphyxiating Thoracic Dysplasia)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Joubert Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Meckel-Gruber Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Oro-Facial-Digital Syndrome (OFDS)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Short Rib Polydactyly Syndromes

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Cornelia De Lange Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Crouzon Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

DiGeorge Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Ectrodactyly-Ectodermal Dysplasia-Cleft (EEC) Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Fanconi Anaemia

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Femoral-Facial Syndrome (Femoral Hypoplasia-Unusual Facies Syndrome)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Fraser Syndrome

Characteristics

Ultrasound/MRI Detectable Features in Affected Fetuses

Fryns Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Generalised Arterial Calcification of Infancy (GACI)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Goldenhar Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Goltz-Gorlin Syndrome (Focal Dermal Hypoplasia)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Holt-Oram Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Hydrolethalus Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Jarcho-Levin Syndrome (Spondylocostal Dysplasia)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Klippel-Feil Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Larsen Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Microcephalic Osteodysplastic Primordial Dwarfism Types I/III, II

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Miller-Dieker Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Neu-Laxova Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Pfeiffer Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Pierre-Robin Sequence

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Proteus Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Pseudo-TORCH Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

RASopathies

Costello Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Noonan Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Roberts Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Robinow Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Seckel Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Sotos Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Russell-Silver Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Raine Syndrome (Osteosclerotic Bone Dysplasia)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Sirenomelia

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Smith-Lemli-Opitz Syndrome (SLO)

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

TAR (Thrombocytopenia and Absent Radius) Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Treacher Collins Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Tuberous Sclerosis

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Vacterl Association

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Van Der Woude Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Vici Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Walker-Warburg Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Weaver Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Wolf-Hirschhorn Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

X-Linked Hydrocephalus

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Zellweger Syndrome

Characteristics

Inheritance

Ultrasound/MRI Detectable Features in Affected Fetuses

Chapter 20 Termination of Pregnancy for Fetal Abnormality

Indications

Legal Framework

United Kingdom

Australia and New Zealand

India

Medical Management

Gestational Age

Procedure-Related Risks

Procedure

Mifepristone

Misoprostol

Intact Uterus (No Previous Uterine Scar)

Placenta Praevia

Scarred Uterus

No Significant Progress after 24 Hours

Surgical Management

Gestational Age

Procedure-Related Risks

Technique

First Trimester

Second Trimester

Termination after Transabdominal Cerclage

Fetocide in Singletons

Gestational Age

Procedure-Related Risks

Antiseptic Procedures

Technique

Fetocide in Multiple Pregnancies

Dichorionic Pregnancy

Gestational Age

Procedure-Related Risks

Technique

Selective Termination with Shared Chorionicity

Monochorionic Pregnancy

Gestational Age

Procedure-Related Risks

Technique

Post-Procedure Management

Suggested Reading

Index

 

An aparitie	22 iun 2023
Autor	Zarko Alfirevic, Seshadri Suresh, Jonathan Hyett
Dimensiuni	179 x 254 x 25 mm
Editura	Cambridge University Press
Format	Paperback
ISBN	9781009015943
Limba	Engleza
Nr pag	352