Chromosomal Abnormalities Vocabulary Flashcards

1
Q

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

A

Amniocentesis

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2
Q

Inflammation of the amniotic sac secondary to infection

A

Amnionitis

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3
Q

A condition of having an abnormal number of chromosomes

A

Aneuploidy

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4
Q

A structural feature that differs from the norm

A

Anomaly

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5
Q

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

A

Chorionic Villi

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6
Q

Prenatal test used that obtains placental tissue for chromosomal analysis

A

Chorionic Villi Sampling

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7
Q

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

A

Choriod Plexus Cysts

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8
Q

An error in either the number or structure of chromosomes

A

Chromosomal Abnormality

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9
Q

The cellular structures that contain genes

A

Chromosomes

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10
Q

The bending of the fifth finger toward the fourth finger

A

Clinodactyly

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11
Q

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

A

Cordocentesis

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12
Q

Fusion of the orbits

A

Cyclopia

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13
Q

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

A

Fetal Karyotyping

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14
Q

The increased volume of cerebrospinal fluid within the ventricular system

A

Hydrocephalus

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15
Q

Incomplete or arrested development of a structure

A

Hypoplastic

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16
Q

A structural abnormality that results from an abnormal development

A

Malformation

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17
Q

Small eye(s)

A

Microphthalmia

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18
Q

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

A

Molar Pregnancy

19
Q

The form and structure of an organism

A

Morphology

20
Q

Fetal hydrops caused by congenital fetal anomalies and infections

A

Nonimmune Hydrops

21
Q

The posterior part or name of the neck

A

Nuchal

22
Q

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

A

Nuchal Cystic Hygroma

23
Q

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

A

Nuchal Fold

24
Q

The anechoic space along the posterior aspect of the fetal neck

A

Nuchal Translucency

25
Q

Imperfect or abnormal development of the ovaries

A

Ovarian Dysgenesis

26
Q

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

A

Pregnancy-Associated Plasma Protein A

27
Q

Abnormal curved shape of the sole of the feet

A

Rockerbottom Feet

28
Q

A large space between the first and second toes

A

Sandal Gap

29
Q

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

A

Spina Bifida

30
Q

The loss of a pregnancy before 20 gestational weeks

A

Spontaneous Abortion

31
Q

A buildup of fluid under the skin

A

Subcutaneous Edema

32
Q

Webbed fingers or toes

A

Syndactyly

33
Q

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

A

Syndrome

34
Q

A cell having three copies of an individual chromosome

A

Trisomy

35
Q

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

A

Trisomy 13

36
Q

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

A

Trisomy 18

37
Q

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

A

Trisomy 21

38
Q

The cells that surround the gestation that produce human chorionic gonadotropin

A

Trophoblastic Cells

39
Q

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

A

Turner syndrome

40
Q

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

A

Diploid

41
Q

A cell having only one member of each pair of chromosomes

A

Haploid

42
Q

A cell having only one of an individual chromosome

A

Monosomy

43
Q

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

A

Mosiac

44
Q

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

A

Triploid