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