Chromosomal Abnormalities Vocabulary

Question 1

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

Answer 1

Amniocentesis

Question 2

Inflammation of the amniotic sac secondary to infection

Answer 2

Amnionitis

Question 3

A condition of having an abnormal number of chromosomes

Answer 3

Aneuploidy

Question 4

A structural feature that differs from the norm

Answer 4

Anomaly

Question 5

Fingerlike projections of gestational tissue that attach to the decidualized endometrium and allow transfer of nutrients from the mother to the fetus

Answer 5

Chorionic Villi

Question 6

Prenatal test used that obtains placental tissue for chromosomal analysis

Answer 6

Chorionic Villi Sampling

Question 7

Cysts located within the lateral ventricles of the brain, specifically in the choriod plexus

Answer 7

Choriod Plexus Cysts

Question 8

An error in either the number or structure of chromosomes

Answer 8

Chromosomal Abnormality

Question 9

The cellular structures that contain genes

Answer 9

Chromosomes

Question 10

The bending of the fifth finger toward the fourth finger

Answer 10

Clinodactyly

Question 11

Prenatal test that obtains fetal blood for chromosomal analysis; also referred to as percutaneous umbilical cord sampling

Answer 11

Cordocentesis

Question 12

Fusion of the orbits

Answer 12

Cyclopia

Question 13

An analysis of fetal chromosomes; reveals the morphology and number of chromosomes

Answer 13

Fetal Karyotyping

Question 14

The increased volume of cerebrospinal fluid within the ventricular system

Answer 14

Hydrocephalus

Question 15

Incomplete or arrested development of a structure

Answer 15

Hypoplastic

Question 16

A structural abnormality that results from an abnormal development

Answer 16

Malformation

Question 17

Small eye(s)

Answer 17

Microphthalmia

Question 18

Also referred to as gestational trophoblastic disease; associated with an abnormal proliferation of the trophoblastic cells, enlargement of the placenta, and elevated levels of human chorionic gonadotropin

Answer 18

Molar Pregnancy

Question 19

The form and structure of an organism

Answer 19

Morphology

Question 20

Fetal hydrops caused by congenital fetal anomalies and infections

Answer 20

Nonimmune Hydrops

Question 21

The posterior part or name of the neck

Answer 21

Nuchal

Question 22

A mass found in the neck that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue

Answer 22

Nuchal Cystic Hygroma

Question 23

A collection of solid tissue at the back of the fetal neck

Answer 23

Nuchal Fold

Question 24

The anechoic space along the posterior aspect of the fetal neck

Answer 24

Nuchal Translucency

Question 25

Imperfect or abnormal development of the ovaries

Answer 25

Ovarian Dysgenesis

Question 26

A protein that is produced by the placenta and that can be monitored during pregnancy

Answer 26

Pregnancy-Associated Plasma Protein A

Question 27

Abnormal curved shape of the sole of the feet

Answer 27

Rockerbottom Feet

Question 28

A large space between the first and second toes

Answer 28

Sandal Gap

Question 29

A birth defect in which there is incomplete closure of the spine

Answer 29

Spina Bifida

Question 30

The loss of a pregnancy before 20 gestational weeks

Answer 30

Spontaneous Abortion

Question 31

A buildup of fluid under the skin

Answer 31

Subcutaneous Edema

Question 32

Webbed fingers or toes

Answer 32

Syndactyly

Question 33

A group of clinically observable findings that exist together and allow for classification

Answer 33

Syndrome

Question 34

A cell having three copies of an individual chromosome

Answer 34

Trisomy

Question 35

Chromosomal aberration in which there is a third chromosome 13; also referred to as Patau Syndrome; often associated with holoprosencephaly

Answer 35

Trisomy 13

Question 36

Chromosomal aberration in which there is a third chromosome 18, also referred to as Edwards Syndrome

Answer 36

Trisomy 18

Question 37

Chromosomal aberration in which there is a third chromosome 21; also referred to as Down Syndrome

Answer 37

Trisomy 21

Question 38

The cells that surround the gestation that produce human chorionic gonadotropin

Answer 38

Trophoblastic Cells

Question 39

A chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X

Answer 39

Turner syndrome

Question 40

A cell having the normal pair of each chromosome (46)

Answer 40

Diploid

Question 41

A cell having only one member of each pair of chromosomes

Answer 41

Haploid

Question 42

A cell having only one of an individual chromosome

Answer 42

Monosomy

Question 43

A situation in which some cells have an abnormal number of chromosomes whereas others do not

Answer 43

Mosiac

Question 44

A cell having three times the normal haploid number (69(

Answer 44

Triploid