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.
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.
New to this Edition
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.
* 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
SYNDROMES FEATURING GROWTH RESTRICTION
* Cornelia de Lange Syndrome * Noonan Syndrome * Russell-Silver Syndrome * Seckel Syndrome * Smith-Lemli-Opitz Syndrome
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
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