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110 Cards in this Set
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- Back
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Question
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Answer
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ACETYLCHOLINESTERASE
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An enzyme found in the amniotic fluid when a neural crest anomaly is present. It may be found in trace amounts if an abdominal wall defect, such as omphalocele, is present.
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ANCHONDROGENESIS.
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A lethal type of dwarfism similar to thanatophoric dwarfism
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ACHONDROPLASIA
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A type of dwarfism characterized by a bulging forehead and short limbs.
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ALPHA-FETOPROTEIN ( AFP)
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An enzyme found in maternal blood and amniotic fluid that is elevated in the presence of neural crest anomalies, some gastrointestinal anomalies, fetal death, twins, wrong estimation of dates, fetal masses such as Sacrococcygeal teratoma and cystic hygroma, and maternal liver problems. Low levels of AFP are associated with Down syndrome
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AMNIOTIC BAND SYNDROME
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Bands within the amniotic fluid adhere to the fetus and amputate portions of limbs. In its most severe form, it causes the limb/body wall complex.
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ANAL ATRESIA
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Intestinal obstruction at the anal level due to failure to form the rectum; usually without sonographic features.
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ANHYDRAMNIOS
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No amniotic fluid.
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ARNOLD-CHIARI MALFORMATION (TYPE II)
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Low position of the cerebellum in the upper cervical spinal canal due to cord tethering. Associated with “Lemon†skull shape, banana-shaped cerebellum, and hydrocephalus.
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CISTERNA MAGNA
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Fluid-filled space at the back of the head that lies between the cerebellum and the skull
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CLEFT PALATE
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Congenital gap in the midface that involves the palate, maxilla, and possibly the lip.
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CLOACA
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Fluid-filled bag into which ureters, rectum, and vagina enter; seen with certain developmental anomalies.
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CLOSED NEURAL DEFECTS
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Neural defects in which the spinal cord and brain are not in contact with the amniotic fluid and thus are not associated with an elevated alphafetoprotein level.
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CLUBFOOT
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The foot is acutely angled. This abnormal foot position may be a sign of chromosomal anomaly.
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CYCLOPS
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A single eye is present. Associated with holoprosencepaly.
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CYLLOSOMA (limb/body wall complex)
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Lethal abnormality thought to be due to amniotic bands. Features are gastroschisis, spina bifida, kyphoscoliosis, and absent limbs.
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CYSTIC HYGROMA
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Large fluid-containing sac filled with lymph, usually located in the region of the neck. May be part of a generalized fatal condition—lymphangiectasia—or a benign focal process. Associated with Turner’s and Down syndrome
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CYTOMEGALIC INCLUSION DISEASE (CMV)
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Fetal viral disease sometimes resulting in intracranial calcification, microcephaly, and mental deficiency.
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DANDY-WALKER SYNDROME
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Brain anomaly with a dilated fourth ventricle and possible secondary dilatation of the rest of the ventricles of the brain. A small cerebellum is the cardinal feature.
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DIAPHRAGMATIC HERNIA
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A portion of one diaphragm is missing, and the bowel or liver lies in the chest.
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DOUBLE BUBBLE SIGN
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Sign of duodenal atresia in which two circular, fluid-filled structures, representing the stomach and duodenum, are seen in the upper abdomen.
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DOWN SYNDROME (MONGOLISM
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Syndrome seen predominantly in the fetuses of women who are over 35 yrs old; recognizable at amniotic fluid analysis or chorionic villus sampling by the presence of an abnormal chromosome. It is associated with congenital heart disease and duodenal atresia.
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DUODENAL ATRESIA
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Intestinal obstruction at a duodenal level with subsequent distention of the duodenum and stomach by fluid. Associated with polyhydramnios and Down syndrome
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DUPLICATION CYST
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Congenital anomaly. A portion of the gastrointestinal tract, usually the stomach, is reduplicated. If a cystic mass can be seen with U/S, there is generally not a patent connection between the gut and the cyst.
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DYSPLESIA
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see mulicystic (DYSPLASTIC KIDNEY)
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ECTOPIA CORDIS
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The heart parially lies outside and anterior to the chest. Associated with Omphalocele and Pentalogy of Cantrell.
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(SIX-FINGERED DWARFISM)"
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TYPE OF DWARFISM IN WHICH THERE ARE EXTRA DIGITS
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ENCEPHALOCELE
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HERNIATION OF THE COVERINGS OF THE BRAIN THROUGH DEFECT IN THE SKULL. BRAIN TISSUE IS CONTAINED W/IN THE HERNIATION, ALTHOUGH USUALLY MOST OF THE CONTENTS OF THE SAC ARE FLUID.
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EXENCEPHALY
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VARIANT OF ANENCEPHALY IN WHICH SOME CORTICAL BRAIN REMAINS
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FINNISH NEPHROPATHY
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A CAUSE OF RENAL FAILURE AND INCREASED AFP. THE KIDNEYS ARE OFTEN NORMAL BUT MAY BE LARGE AND ECHOGENIC.
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ANENCEPHALY
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Most common fetal intracranial anomaly. The base of the brain and face are the only things present in the head; the craniaum is absent.
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CYSTIC ADENOMATOID MALFORMATION
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Anomaly in which a part of the lung is replaced by cysts.
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DIASTEMATOMYELIA
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Bony spur in the center of the spinal canal, splitting the cord.
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GASTROSCHISIS
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Condition similar to Omphalocele except that no membrane covers the herniated material. Gut floats freely in the amniotic fluid. The wal defect is in the right lower part of the abdomen.
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HOLOPROSENCEPHALY
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Intracranial anomaly. A Horseshoe-shaped ventricle replaces the 2 lateral ventricles. Usually fatal or causes severe mental retardation. Associated w/ Trisomy 13 and facial defects such as cleft lip and palate, hypotelorism in extreme cases, cyclopia and probscis
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HOLT-ORAM SYNDROME
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Congenital syndrome consisting of a combination of heart disease and absence of a digit or the radius in the arm.
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HYDRANENCEPHALY
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Absence of the cortical brain. Portions of the mdbrain and brainstem are present. Not compatible with life.
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HYDROCEPHALUS
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Marked enlargement of the cerebral ventricles. Implies entricular obstruction. A better term is Ventriculomegaly or nonspecific ventricular enlargement.
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HYDRONEPHROSIS
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An obstructed kidney with a dilated collecting system.
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HYDROPS FETALIS
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The fetal abdomen contains ascites and the skin is thickened by excess fluid. This condition has a variety of causes, of which the most well known is rhesus incompatibility (Rh disease). Other causes are grouped as nonimmune hydrops.
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HYPOPLASTIC LEFT HEART SYNDROME
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Congenital abnormality in which the aorta and left side of the heart are too small. This condition is often fatal after birth, even with surgery.
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HYPOTELORISM
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Condition in which the orbits are too close together.
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ILEAL ATRESIA
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Intestinal obstruction at a midgut level. Filling of small bowel loops with fluid; associated with polyhydramnios.
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INFANTILE POLYCYSTIC KIDNEY
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A congenital conditon in which large kidneys are filled with tiny cysts.
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INIENCEPHALY
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Defect consisting of an Encephalocele that involves the posterior aspects of the skull and the cervical vertebrae; some vertebrae may be missing.
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KAROTYPE
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Process of performing chromosomal analysis on a fetus.
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KLEEBATTSCHADEL DEFORMITY
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Skull deformity in which there is a large bony bulge of the superior aspect of the head.
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KYPHOSCOLIOSIS
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Spine that is bent sideways and undully flexed.
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LAMINA
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Lateral bridgeof bone covering the posterior spinal canal.
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LEMON SIGN
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Deformity of the skull in which it assumes a shpae similar to a lemon. The frontal areas become flatted. This type of anomaly is seen when spina bifida is present.
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(MECKEL-GRUBER SYNDROME)"
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A lethal syndrome consisting of infantile polycystic kidney, Encephalocele, and extra digits (polydactyly).
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MECONIUM
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Contents of the fetal bowel.
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MECONIUM PERITONITIS
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Bowel rupture in utero, which leads to meconium spilage with consequent calcification. There is usually bowel obstruction.
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MEGACYSTIS MICROCOLON SYNDORME
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Rare anomaly with huge bladder, dilated ureters, and calyces, and minute large bowel. Only the bladder is visible w/ u/s. Most patients are female, and there is often polyhyramnios.
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MENINGOCELE
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Spinal bone defect with cerebrospinal fluid pouch.
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MICROCEPHALY
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Unduly small skull and brain; associated with mental dificiency.
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MICROGNATHIA
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Small or absent jaw. A feature of a number of rare syndromes.
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MULTICYSTIC (DYSPLASTIC) KIDNEY
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Developmental abnormality of the kidney in which the normal renal parenchyma is totally replaced by cysts of varying sizes. If bilateral, it is not compatible with survival.
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MYELOCELE
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Spinal bone defect with spinal cord protursion, but no cerebrospinal fluid pouch.
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MYELOMENINGOCELE
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Bone defect associated with tethering and distortion of the spinal cord and a fluid-containing cavity at the level of the abnormality.
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MUTATION
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Spontaneous changee in the chromosomal make-up of a cell.
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NEURAL CREST ANOMALY
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A brain/spinal defect in which there is no skin covering on the spine or brain, and therefore contact between some portiion of the central nervous systemand teh anmiotic fluid occurs. This combination gives rise to a raised AFP level. Anencephaly, Encephalocele, and Spina bifida are examples of neural crest anomalies.
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OMPHALOCELE
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Herniation of some of the gut, including the liver, out of the abdomen through an umbilical opening (see gastroschisis). A membrane coversthe herniateed contents. Associated with other congenital anomalies.
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OSTEOGENESIS IMPERFECTA
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Congenital anomaly in which bone fractures occur.
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PENTALOGY OF CANTRELL
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Combination of partial diaphragmatic absence, ectopia cordis, Omphalocele, sternal abnormality, and pericardial deficiency.
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PHOCAMELIA
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Most of the arms or legs are absent so that flippers originate from the trunk. Used to be seen following thalidomide administration.
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POSTERIOR URETHRAL VALVES
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Valves situated in the posterior urethras cause partial or complete obstruction of the bladders, ureters, and kidneys. Occurs Only In MALES.
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POTTER'S SYNDROME
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Fetus with bilateral renal abnormalities, which may consist of absent kidneys, bilateral hydronephrosis, bilateral multicystic dysplastic kidneys, or infantile polycystic kidney. Anhydramnios may accompany this syndrome. The consequences of absent amniotic fluid-unusual face, deformed limbs, and hypoplastic lungs-will be seen at birth. Most such fetuses are stillborn.
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PROBOSCIS
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Instead of anose, this soft tissue tubular structure may be seen above the eyes in Holoprosencephaly.
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PRUNE BELLY (EAGLE-BARRETT) SYNDROME (AGENESIS OF THE ABDOMINAL MUSCLES)
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Congenital condition in which there are weakened or absent abdominal wall muscles, markedly distended ureters with tiny or hydronephrotic kidneys, and a large bladder.
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PULMONARY HYPOPLASIA
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Condition associated with Oligohydramnios and extrinsic pressure on the chest, due to fluid or masses, in which the lungs never function adequately after birth.
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RACHISCHISIS
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The bone and soft tissues that cover the posterior aspects of the spinal canal are unfused so the spinal cord is exposed.
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REFLUX (VESICOURETHRAL)
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In the normal fetus, the ureter enters the bladder, but not to go back to the kidney. If this tunnel is short, urine can pass in either direction. Reversal of urine flow back tothe kidney is known as reflux.
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RHESUS (Rh)INCOMPATIBILITY (ERYTHROBLASTOSIS FETALIS)
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The feal blood possesses a different Rh group from the maternal blood. When maternal blood cells leak into the fetal circulation, they interact, forming antibodies. In the next pregnancy there is hemolysis, and the fetus is left anemic with hydrops.
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ROCKERBOTTOM FOOT
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Abnormal foot with very prominent heel. May be an indication of a chromosomal anomaly.
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RUBELLA
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Viral disease that is associated with a number of fetal anomalies, including congenital heart disease, when occuring in utero.
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SEQUESTRATION
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Anomaly in which a segment of the lung does not connect with the trachea and has its own blood supply. SOmetimes the abnormal segment of he lung develops below the diaphragm.
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SPINA BIFIDA
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Bony spinal defect over the spinal canal. Nearly always accompanied by some form of Myelomeningocele, sometimes with Hydrocephalus.
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TERATOMA
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Tumor composed of multiple different tissues that may arise anywhere in the body, but usually in the sacrum.
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TETHERING
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The lower end of the cord normally ascends from the sacrum to level L2 in utero. With anomalies such as spina bifida and lipoma, it does not ascend, but terminates at a lower level.
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TORCH
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Group of congenital infectious diseases with similar features: Toxoplasmosis, rubella, cystomegalic inclusion disease, and herpes.
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TOXOPLASMOSIS
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Parasitic disease affecting the fetus in utero and causing intracranial calcification.
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TRACHEOESOPHAGEAL FISTULA
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Obstruction of the esophagus usually associated with a fistula to the trachea. Sometimes there is also a connection to the stomach through the trachea. In the most severe form no fluid reaches the stomach.
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TRIPLOIDY
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There are one and one half times as many chromosomes as there should be. Causes fetal death and a large, abnormal placenta that may look like a mole.
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TRIRADIATE
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The fingers in Thanatophoric Dwarfism are separated and short, forming a triradiate shape.
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TRISOMY
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Abnormal chromosomes are present; three are present where a specific pair should be. The most comon types are 13, 18, and 21 (hence trisomy)
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TURNER'S SYNDROME
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One sex chromosome is absent. Associated with Cystic Hygroma, a webbed neck, and mental deficiency.
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VEIN OF GALEN ANEURYSM
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A large arteriovenous fistula seen as a sizable cyst in the posterior aspect of the brain, above the tentorium.
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VENTRICULOMEGALY
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Enlargement of the intracranial ventricles, not necessarily associated with obstructio.
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THANATOPHORIC DWARF
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Form of dwarfism that affects not only the limbs but also the chest, which is too small. Invariably fatal.
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BANANA SIGN
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Change in the shape of the cerebellum (it becomes curved) that occurs in the presence of spina bifida.
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ELLIS-van CREVELD SYNDROME SIX-FINGERED DWARFISM)
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TYPE OF DWARFISM IN WHICH THERE ARE EXTRA DIGITS
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LIMB / BODY WALL SYNDROME
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SAME AS CYLLOSOMA lethal abnormality thought to be due to the amniotic bands. Features are Gastroschisis, spinal fifida, kyphoscoliosis, and absent limbs.
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LYMPHANGIOMA
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SEE CYSTIC HYGROMA Large fluid-containing sac filled w/ lymph, usually located in the region of the neck.
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MECKEL'S SYNDROME (MECKEL-GRUBER SYNDROME)
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A lethal syndrome consisting of infantile polycystic kidney, Encephalocele, and extra digits (polydactyly).
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ANENCEPHALY
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Most common fetal intracranial anomaly. The base of the brain and face are the only things present in the head; the craniaum is absent.
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ARNOLD-CHIARI MALFORMATION (TYPE II)
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Low position of the cerebellum in the upper cervical spinal canal due to cord tethering. Associated with “Lemon†skull shape, banana-shaped cerebellum, and hydrocephalus.
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CISTERNA MAGNA
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Fluid-filled space at the back of the head that lies between the cerebellum and the skull
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CYCLOPS
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A single eye is present. Associated with holoprosencepaly.
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CYSTIC HYGROMA
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Large fluid-containing sac filled with lymph, usually located in the region of the neck. May be part of a generalized fatal condition—lymphangiectasia—or a benign focal process. Associated with Turner’s and Down syndrome
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DANDY-WALKER SYNDROME
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Brain anomaly with a dilated fourth ventricle and possible secondary dilatation of the rest of the ventricles of the brain. A small cerebellum is the cardinal feature.
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ENCEPHALOCELE
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HERNIATION OF THE COVERINGS OF THE BRAIN THROUGH DEFECT IN THE SKULL. BRAIN TISSUE IS CONTAINED W/IN THE HERNIATION, ALTHOUGH USUALLY MOST OF THE CONTENTS OF THE SAC ARE FLUID.
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EXENCEPHALY
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VARIANT OF ANENCEPHALY IN WHICH SOME CORTICAL BRAIN REMAINS
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HOLOPROSENCEPHALY
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Intracranial anomaly. A Horseshoe-shaped ventricle replaces the 2 lateral ventricles. Usually fatal or causes severe mental retardation. Associated w/ Trisomy 13 and facial defects such as cleft lip and palate, hypotelorism in extreme cases, cyclopia and probscis
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HYDRANENCEPHALY
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Absence of the cortical brain. Portions of the mdbrain and brainstem are present. Not compatible with life.
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HYDROCEPHALUS
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Marked enlargement of the cerebral ventricles. Implies entricular obstruction. A better term is Ventriculomegaly or nonspecific ventricular enlargement.
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INIENCEPHALY
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Defect consisting of an Encephalocele that involves the posterior aspects of the skull and the cervical vertebrae; some vertebrae may be missing.
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LEMON SIGN
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Deformity of the skull in which it assumes a shpae similar to a lemon. The frontal areas become flatted. This type of anomaly is seen when spina bifida is present.
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MICROCEPHALY
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Unduly small skull and brain; associated with mental dificiency.
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MULTICYSTIC (DYSPLASTIC) KIDNEY
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Developmental abnormality of the kidney in which the normal renal parenchyma is totally replaced by cysts of varying sizes. If bilateral, it is not compatible with survival.
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