Ch. 30 Chromosomal Abnormalities
Advanced maternal age is considered to be: A. > 25 years of age B. > 30 years of age C. > 35 years of age D. >40 years of age
>35 years of age
Spina bifida
A birth defect in which there is incomplete closure of the spine
Subcutaneous edema
A buildup of fluid under the skin
Trisomy
A cell having three copies of an individual chromosome
Turner syndrome
A chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Nuchal fold
A collection of solid issue at the back of the fetal neck
Aneuploidy
A condition of having an abnormal number of chromosomes
Intrauterine growth restriction
A fetus that is below the 10th percentile for gestational age (small for gestational age) and whose growth is impeded for some reason
Holoprosencephaly
A group of brain abnormalities consisting of varying degrees of fusion of the lateral ventricles, absence of the midline structures, and associated facial anomalies
Club foot
A malformation of the bones of the foot in which the foot is most often inverted and rotated medially and the metatarsals lie in the same plane as the tibia and fibula
Advanced maternal age
A maternal age older than 35 years
Triple screen
A maternal blood test that typically includes an analysis of human chorionic gonadotropin, Alpha-fetoprotein, and estriol
Pregnancy-associated plasma protein A
A protein that is produced by the placenta and that can be monitored during pregnancy
Micrognathia
A small mandible and recessed chin
Malformation
A structural abnormality that results from an abnormal development
Amniocentesis
A surgical procedure in which amniotic fluid is extracted for genetic testing or removed when there is an accumulation of an excessive amount of fluid around the fetus
Rockerbottom feet
Abnormal curved shape of the sole of the feet
Molar pregnancy
Also referred to as gestational trophoblastic disease; is associated with an abnormal proliferation of the trophoblastic cells, enlargement of the placenta, and elevated levels of human chorionic gonadotropin
Fetal karyotyping
An analysis of fetal chromosomes
Patau syndrome
Chromosomal aberration in which there is a third chromosome 13; also referred to as Trisomy 13
Trisomy 18
Chromosomal aberration in which there is a third chromosome 18; also referred to as Edwards syndrome
Dandy-Walker malformation
Congenital brain malformation in which there is enlargement of the cisterna magna, agenesis of the cerebellar vermis, and dilation of the fourth ventricle
Percutaneous umbilical cord sampling
Cordocentesis
The maternal serum screening ofa A mother with trisomy 18 will reveal : A. Decreased human chorionic gonadotropin, elevated Alpha-fetoprotein, and normal estriol B. Increased human chorionic gonadotropin, Alpha-fetoprotein, and estriol C. Increased Alpha-fetoprotein, increased human chorionicgonadotropin, and decreasedestriol D. Decreased human chorionicgonadotropin, Alpha-fetoprotein, and estriol
Decreased human chorionic gonadotropin, Alpha-fetoprotein, and estriol
Hydrocephalus
Dilatation of cerebral ventricles resulting from excessive accumulation of cerebrospinal fluid
A 38 year old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her Alpha fetoprotein and estriol are low, while her human chorionic gonadotropin is elevated. These laboratory findings are most consistent with: a. Edwards syndrome b. Patau syndrome c. Triploidy d. Down syndrome
Down syndrome
Brachycephaly is associated most often with the following syndromes? A. Edwards syndrome B. Patau syndrome c. Down syndrome D. Turner syndrome
Down syndrome
A strawberry-shaped skull is associated with: A. Edwards syndrome B. Turner Syndrome C. Down syndrome D. Patau syndrome
Edwards syndrome
Non-immune hydrops
Fetal hydrops caused by congenital fetal anomalies and infections
Pericardial effusion
Fluid accumulation around the heart in the pericardial cavity
Polydactyly
Having more than the normal number of fingers or toes
Ovarian dysgenesis
Imperfect or abnormal development of the ovaries
A Structural abnormality that results from an abnormal development describes: A. Syndrome B.chromosomal deviation C. Malformation D. Congenital misrepresentation
Malformation
Fusion of the orbits and holoprosencephaly are associated with: A. Edwards syndrome B. Turner syndrome C.Down syndrome D. Patau syndrome
Patau syndrome
Cordocentesis
Prenatal test that obtains fetal blood for chromosomal analysis
Chorionic villi sampling
Prenatal test used that obtains placental tissue for chromosomal analysis
Pleural effusion
The abnormal accumulation of fluid in the pleural space
Cleft palate
The abnormal development of the soft and / or hard palate of the mouth where there is a division in the palate
Nuchal translucency
The anechoic space along the posterior aspect of the fetal neck
Facies
The features or appearance of the face
Diaphragmatic hernia
The herniation of the abdominal contents into the chest cavity through a defect in the diaphragm
Spontaneous abortion
The loss of a pregnancy before 20 gestational weeks
Coarctation of the aorta
The narrowing of the aortic Arch
Nuchal
The posterior part or nape of the neck
Cleft lip, hypotelorism, and microphthalmia are all sonographic features of: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Turner syndrome
Trisomy 13
Edwards syndrome
Trisomy 18
Absent nasal bones in an increased nuchial measurement is most consistent with the sonographic markers for: A. Trisomy 21 B. Trisomy 13 C. Triploidy D. Trisomy 18
Trisomy 21
Down syndrome
Trisomy 21
Syndactyly
Webbed fingers or toes
Syndrome
a group of clinically observable findings that exist together and allow for classification
Sandal Gap
A large space between the first and second toe
Nuchal cystic hygroma
A mass, typically found in the neck region, that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue
Alpha-fetoprotein
A protein produced by the fetal yolk Sac, fetal gastrointestinal tract, and the fetal liver; may also be produced by some malignant tumors
The triple screen typically includes: a. Alpha fetoprotein, estriol, and human chorionic gonadotropin b. Alpha fetoprotein, amniotic fluid index, and human chorionic gonadotropin c. Alpha fetoprotein, astrial, and pregnancy-associated plasma protein A d. Pregnancy-associated plasma protein A, inhibin A, and human chorionic gonadotropin
Alpha fetoprotein, estriol, and human chorionic gonadotropin
Cleft lip
An abnormal division of the lip
Omphalocele
An anterior abdominal wall defect where there is herniation of the fetal bowel and other abdominal organs into the base of the umbilical cord
Estriol
An estrogenic hormone produced by the placenta
Rounded head shape is referred to as: A. Dolichocephaly B. Brachycephaly C. Cebocephaly D. Craniosynostosis
Brachycephaly
Ventriculomegaly
Build-up of cerebrospinal fluid that results in enlargement of one or more of the ventricles within the brain
Placental tissue is obtained with what procedure? A. Amneocentisis B. Cordocentesis C. Chorionic villi sampling D. Trophoblastic resection technique
Chorionic villi sampling
The earliest fetal karyotyping technique that can be performed is: A. Amniocentesis B. Cordocentisis C. Chorionic villi sampling D. Percutaneous umbilical cord sampling
Chorionic villi sampling
Trisomy 13
Chromosomal aberration in which there is a third chromosome 13; also referred to as Patau syndrome; often associated with holoprosencephaly
Trisomy 21
Chromosomal aberration in which there is a third chromosome 21; also referred to as Down syndrome
The bending of the fifth digit toward the fourth digit is called: A. Syndactyly B. clinodactyly C. polydactyly D. Stabodactyly
Clinodactyly
Esophageal atresia
Congenital absence of part of the esophagus
Duodenal atresia
Congenital maldevelopment or absence of duodenum
Choroid plexus cysts
Cysts located within the lateral ventricles of the brain, specifically in the choroid plexus
Widened pelvic angles and duododnal atresia are most consistent with the sonographic markers for: A. Triploidy B. Patau syndrome C. Down syndrome D.Edwards syndrome
Down syndrome
Pyelectasis
Enlargement of the renal pelvis; also referred to as pelviectasis
Macroglossia
Enlargement of the tongue
Ascites
Excessive fluid in the peritoneal cavity
Renal agenesis
Failure of the kidney to develop; may be unilateral or bilateral
Chorionic villi
Finger-like projections gestational tissue that attach to the decidualized endometrium and allowed transfer of nutrients from the mother to the fetus
Theca lutein cysts
Functional ovarian cysts that are found in the presence of elevated levels of human chorionic gonadotropin; also referred to as a theca luteal cysts
Cyclopia
Fusion of the orbits
Human chorionic gonadotropin
Hormone produced by the trophoblastic cells of the early placenta; may also be used as a tumor marker in non gravid patients and males
Hypoplastic left heart
Incomplete development of the left ventricle resulting in a small or absent left ventricle
Hypoplastic
Incomplete or arrested development of a structure
Amnionitis
Inflammation of the amniotic sac secondary to infection
The term for small eyes is : A. Microphthalmia B. Micrognathia C. Microcephaly D. Microglossia
Microphthalmia
Hypotelorism
Reduced distance between the orbits
Brachycephaly
Round skull shape
A large space between the first and second toe is termed A. Polydactyly B. Club foot C. Ulnaration D. Sandal gap
Sandal Gap
Microphthalmia
Small eye or eyes
Microcephaly
Small head
Horseshoe kidneys
The attachment of the lower poles of the kidneys by a band of renal tissue that crosses the midline of the abdomen
Clinodactyly
The bending of the fifth finger toward the fourth finger
Trophoblastic cells
The cells that surround the gestation that produce human chorionic gonadotropin
Chromosomes
The cellular structures that contain genes
Agenesis of the corpus callosum
The congenital absence of corpus callosum which may be partial or complete
Hydronephrosis
The dilation of the renal collecting system resulting from the obstruction of the flow of urine from the kidney(s) to the bladder; also referred to as pelvocaliectasis
A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has : A. Trisomy 21 B. Trisomy 18 C. Triploidy D. Turner syndrome
Triploidy
A molar pregnancy, omphalocele, and small, low-set ears are found most often with: A.Trisomy 21 B. Trisomy 18 C. Trisomy 13 D. Triploidy
Triploidy
Bilateralchoroid plexus cysts, Micrognathia, and rockerbottom feet are sonographic findingsof a 27 week fetus with omphalocele. These findings are most consistent with: A. Trisomy 21 B. Trisomy 13 C. Trisomy 18 D.Triploidy
Trisomy 18
A 22-week gestation fetus with clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. These findings are most consistent with: a. Trisomy 21 b. Trisomy 13 c. Monosomy X d. Trisomy 18
Trisomy 21
Of the following, which is macro glossary most often associated with ? A. Trisomy 21 B. Trisomy 18 C. Triploidy D. Turner syndrome
Trisomy 21
Monosomy X
Turner syndrome
Monosomy X refers to: a. Edwards syndrome b. Patau syndrome c. Down syndrome d. Turner syndrome
Turner syndrome
Nonimmune hydrops and ovarian dysgenisis are found in fetuses affected by: A. Trisomy 21 B.Trisomy 18 C.Triploidy D. Turner syndrome
Turner syndrome
Webbing of the neck and short stature is found in infertile female patients with a history of: A. trisomy 21 B. Triploidy c. trisomy 13 d. Turner syndrome
Turner syndrome
