Ultrasound of Fetal Syndromes

By Beryl R. Benacerraf, MD, Clinical Professor of Obstetrics, Gynecology and Reproductive Biology, and Radiology, Harvard Medical School; Director of Vincent Memorial Hospital, Obstetrical Ultrasound Division, Massachusetts General Hospital, Boston, MA

This is the only book of its kind in prenatal diagnosis that details the most common sonographically detectable fetal syndromes. It has an easy-to-follow approach of using lists and patterns of malformations to generate a differential diagnosis of the possible syndrome involved. The reader is then led to the more detailed description of each syndrome to determine the exact final diagnosis. The new edition incorporates 3D ultrasound throughout the book, as well as 20 syndromes not previously covered.

Features

- Cross-references sonographic fetal malformations with various syndromes to use patterns of malformation to arrive at the correct diagnosis.
- Shows the specific features of each syndrome to help you determine how detectable the syndrome is or how likely the fetus is to have the syndrome.
- Offers up-to-date information on how to manage borderline sonographic findings.
- Helps you to not only identify what syndrome a given set of malformations is likely to represent, but also understand the clinical implications of that syndrome.

What's New

* Includes more than 500 new images, many of which are 3D ultrasound images.
* Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital Adrenal Hyperplasia, Congenital High Airway Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome.
* Takes full advantage of a new full color design to make reference even easier.
* Presents ultrasound video ciips as they would appear in practice on the bonus DVD.

Contents

1. DIFFERENTIAL DIAGNOSES
* Cataract * Microphthalmia/Anophthalmia (Unilateral or Bilateral) * Hypotelorism/Cyclopia (Extreme) * Hypertelorism * Choanal atresia * Micrognathia * Facial asymmetry * Maxillary Hypoplasia/Depressed Nasal Bridge * Facial Cleft * Ear Anomalies * Abnormal Head Shape * Strawberry * Lemon * Cloverleaf * Craniosynostosis * Frontal Bossing * Trigonocephaly * Skull Asymmetry * Brachycephaly * Fluid Collections in the Head * Bilateral * Unilateral * Intracranial cyst * Ventriculomegaly * Macrocephaly * Microcephaly * Agenesis of the Corpus Callosum * Dandy-Walker Cyst or Vermian Hypoplasia * Echogenic Mass in the Head * Holoprosencephaly * Neural Tube Defect * Short Spine * Vertebral Body Segmental Abnormalities (Other * Than Platyspondyly) * Platyspondyly * Rib abnormalities * Mass on the Surface of the Fetus * Nuchal Membrane * Nuchal Thickening/Cystic Hygroma (First and Second Trimesters) * Anterior Abdominal Wall Defects * Omphalocele * Anterior Neck Mass * Rotation of the Heart * Intrathoracic Mass * Diaphragmatic Hernia * Narrow Chest * Abdominal Fluid Collection or Cyst * Abdominal Hyperechogenicity * Bowel Obstruction * Ascites * Absent Stomach * Hydronephrosis * Renal Agenesis (Unilateral or Bilateral) * Syndromes Associated with Various Renal Anomalies * Absent Bladder * Distended bladder * Suprarenal Mass * Enlarged Kidneys * Genital Anomalies * Contractures of the Extremities * Clenched Hands * Polydactyly * Syndactyly * Clinodactyly * Asymmetric Lengths of Extremities * Slightly Short Femur * Generalized Short and Bowed Limbs * Asymmetric Limb Reduction Defects * Short Radial Ray * Clubbed Foot * Rockerbottom feet * Flared metaphyses or epithyses * Under-Ossification of Bone * Cord Cyst/Mass * Hydrops * Decreased fetal activity * Intrauterine Growth Restriction * Enlarged placenta * Polyhydramnios * Oligohydramnios * Heart Defects * Echogenic Intracardiac Focus * Abnormal Heart Appearance * Enlarged Heart * Parallel Great Vessels * Enlarged Right Side of the Heart (Compared with the Left) * Smaller Right Side of the Heart (Compared with the Left) * Enlarged Left Side of the Heart (Compared with the Right) * Smaller Left Side of the Heart (Compared with the Right) * Single Great Vessel * Single Ventricle
2. SYNDROMES
SYNDROMES FEATURING GROWTH RESTRICTION
* Cornelia de Lange Syndrome * Noonan Syndrome * Russell-Silver Syndrome * Seckel Syndrome * Smith-Lemli-Opitz Syndrome
SYNDROMES FEATURING FETAL OVERGROWTH
* Beckwith-Wiedemann Syndrome * Maternal Diabetes * Perlman Syndrome
SYNDROMES FEATURING PRIMARILY FACIAL ANOMALIES
* Branchio-Ocular-Facial Syndrome * Cataracts * Cerebro-Costo-Mandibular Syndrome * Cleft Lip and Palate * Fraser Syndrome * Goldenhar Syndrome * Median Cleft Face Syndrome * Microphthalmia/Anophthalmia * Nager Syndrome * Oral-Facial-Digital Syndrome, Type I * Oral-Facial-Digital Syndrome, Type II (Mohr Syndrome) * Pierre Robin Syndrome * Shprintzen Syndrome * Strickler Syndrome * Treacher Collins Syndrome * Van der Woude syndrome
SYNDROMES FEATURING PRIMARILY BRAIN ANOMALIES
* Aicardi Syndrome * Gorlin Syndrome * Hydrolethalus * Joubert Syndrome * Meckel-Gruber Syndrome * Microcephaly * Miller-Dieker Syndrome (Lissencephaly, Type I) * Neu-Laxova Syndrome * Septo-Optic Dysplasia * Walker-Warburg Syndrome * X-Linked Hydrocephalus Syndrome
LIMB ABNORMALITIES
* Adams-Oliver Syndrome * Ectrodactyly–Ectodermal Dysplasia–Clefting (EEC) Syndrome * Fanconi Anemia * Femoral Hypoplasia—Unusual Facies Syndrome * Femur-Fibula-Ulna (FFU) Syndrome * Freeman-Sheldon (Whistling Face) Syndrome * Holt-Oram Syndrome * Larsen Syndrome * Multiple Pterygium Syndrome (Lethal Type) * Roberts Syndrome * Thrombocytopenia–Absent Radius (TAR) Syndrome
SKELETAL DYSPLASIAS
* Achondrogenesis * Achondroplasia * Atelosteogenesis, Type I * Camptomelic Dysplasia * Chondrodysplasia Punctata * Cleidocranial Dysostosis * Diastrophic Dysplasia * Ellis-van Creveld Syndrome * Hypochondroplasia * Hypophosphatasia of the Lethal Type * Jeune Thoracic Dystrophy * Kniest Syndrome * Majewski Syndrome * Metatropic Dysplasia * Osteopetrosis (Lethal Type) * Short Rib–Polydactyly Syndromes (SRPS): Types I (Saldino-Noonan) and III (Naumoff) * Spondyloepiphyseal Dysplasia Congenita * Thanatophoric Dysplasia
SYNDROMES FEATURING PRIMARILY CRANIOSYNOSTOSIS
* Antley-Bixler Syndrome * Apert Syndrome * Carpenter Syndrome * Crouzon Syndrome * Pfeiffer Syndrome * Saethre-Chotzen Syndrome
MISCELLANEOUS SYNDROMES
* Cystic Fibrosis * Fryns Syndrome * Infantile Polycystic Kidney Disease * Jarcho-Levin Syndrome
SYNDROMES FEATURING PRIMARILY SOFT TISSUE ANOMALIES
* Alpha-Thalassemia * Aplasia Cutis Congenita (ACC) * Harlequin Syndrome * Klippel-Trenaunay-Weber Syndrome * Marfan Syndrome * Osteogenesis Imperfecta * Proteus Syndrome * Tuberous Sclerosis
SEQUENCES AND ASSOCIATIONS
* Amniotic Band Sequence * Arthrogryposis * Cardiosplenic Syndromes (Asplenia/Polysplenia; Heterotaxy) * Caudal Regression Syndrome and Sirenomelia * Cerebro-Occulo-Facio-Skeletal (COFS) Syndrome * CHARGE Association * Congenital Adrenal Hyperplasia * Congenital High Airway Obstruction Syndrome (CHAOS) * Cloacal Extrophy Sequence * Holoprosencephaly Sequence * Idiopathic Arterial Calcification of Infancy * Klippel-Feil Sequence * Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome * MURCS Association * Opitz Syndrome * Pena Shokeir Syndrome * Pentalogy of Cantrell * Prune-Belly Syndrome * Renal Agenesis (Potter Syndrome) * Scimitar Syndrome * Spinal Dysraphism * VATER Association
TERATOGENS
* Antibiotics * Anti-Cancer Agents * Anticoagulants * Anticonvulsant Drugs * Antithyroid Agents * Hormones * Tranquilizers and Antidepressants * Miscellaneous * Maternal Infections * Cytomegalovirus (CMV) * Parvovirus B19 * Rubella * Syphilis * Toxoplasmosis * Varicella
SYNDROMES FEATURING CHROMOSOMAL ANOMALIES
* Cri-du-chat (Distal 5p deletion syndrome) * Deletion 4p (Wolf-Hirsch horn Syndrome) * Deletion 11q (Jacobsen Syndrome) * DiGeorge syndrome * Tetrasomy 12p (Pallister-Killian Syndrome) * Triploidy * Trisomy9 * Trisomy 10 * Trisomy 13 (Patau Syndrome) * Trisomy 18 (Edwards Syndrome) * Trisomy 21 (Down Syndrome) * Trisomy 22 * XO Syndrome (Turner Syndrome)
TUMORS
* Cystic Hygroma/Lymphangioma * Hemangioma * Neuroblastoma * Teratoma
CHAPTER 2 APPENDIXES
2.1 Growth Restriction Syndromes 2.2 Facial Anomalies 2.3 Brain Anomaly Syndromes 2.4 Limb Abnormalities 2.5 Skeletal Dysplasias 2.6 Craniosynostosis 2.7 Miscellaneous Syndromes 2.8 Soft Tissue Anomalies 2.9 Sequences and Associations 2.10 Teratogens 2.11 Teratogens: Maternal Infections 2.12 Chromosomal Anomalies
3. Sonographic fetal findings with borderline significance – the grey zone in fetal dianosis, Bryann Bromley and Beryl R. Benacerraf
4. Fetal anomalies and syndromes associated with monochorianic twins, Thomas D. Shipp and Beryl R. Benacerraf