Lesson 29: Patterns of Fetal Anomalies Flashcards
A pattern of multiple anomalies related to a single causative factor or pathology
Syndrome
A pattern of multiple anomalies seen in numerous individuals that are NOT related to a causative factor
Association
A pattern of multiple anomalies that result from an initial single anomaly
Sequence
An anomaly, either single or multiple, which the structure or tissue is abnormal from the beginning. Ex) Cleft Lip
Malformation
An anomaly that is either intrinsic or extrinsic in origin. When a structure or tissue is acted upon by outside forces resulting in an abnormal shape/position.
Deformation
An anomaly in which the structure or tissue, previously normal, breaks down as a result of some type of insult to development. Ex) ABS or teratogen
Disruption
An anomaly which the structure lacks the normal organization of cells, abnormal cell development
Dysplasia
Germ cells (gametes) contain ____ chromosomes, or ____ set.
23
1
The term haploid refers to _____ autosomes and _____ sex chromosome, either X or Y. Referred to as haploid
22
1
Somatic cells contain ___ PAIRS of chromosomes and ____ sex chromosomes. They are referred to as diploid
23
2
Somatic cells replicate through the process of _________ while germ cells replicate through the process of ________.
Mitosis
Meiosis
Heteroploidy is the change in the _______ of chromosomes
Number
The condition in which there are integral multiples of haploid number of chromosome. All chromosomes are affected equally. Ex) Triploidy or 69 chromosomes (3 x 23)
Euploidy
The condition in which there is a departure from euploid number of chromosomes. Having one an extra chromosome in a set or missing one from a set. Ex) Trisomy or Monosomy
Aneuploidy
When one parent has the dominant gene there is a _____% chance each child will inherit the trait or condition
50%
Each parent carries the gene associated with the trait but are not affected. Each child has a ____% of having the condition, ____% of becoming a carrier, and ___% chance of not inheriting the gene
25%
50%
25%
X-Linked Conditions tend to affect the _____ sex
Male
_______- conditions are more common than ______, with a predominance in males. Ex) Colour blindess
Recessive
Dominant
Term used to described conditions that can occur from genetic and nongenetic causes
Multifactorial
Maternal age from 35 years and older increase the risk of Trisomy ____
21
Prenatal screening in the first trimester is used to assess risk for trisomies ___, _____, _____.
13, 18, 21
What tests make up the triple screen?
hCG
MSAFP
uE3 (unconjugated estriol)
What test is added to the triple screen to make the quad screen?
Inhibin A
Triple screening produces a ______ % detection rate
70%
Quad screening produces an _____% detection rate
80%
In trisomy 21, MSAFP and uE3 are _____, while hCG and inhibin A are _______.
low
high
Overgrowth disorder with 5 findings; Macroglossia, anteria wall defects, hypoglycemia, macrosomia, and himipyperplasia
Beckwith- Widemann Syndrome
Facial Nevus Flammeus, or a pink/red patch, it seen in this Syndrome
Beckwith- Weidmann
Renal Dysplasia (PCKD), Limb anomalies, and encephalocele presents in this syndrome
Meckel-Gruber
Monosomy X, also called ______ Syndrome, results from the absence of one of the two sex chromosomes, most often on the _____ side
Turner
Paternal
Turner Syndrome only affects this sex
Female
Horseshoe Kidney, Cystic Hygroma and Ovarian dysgenesis are present in this Syndrome
Turner
Renal anomalies can cause Oligohydraminos, amniotic leakage, or placental abnormalites. This can cause _______ Syndrome
Potter
The presence of a complete extra set of chromosomes is known as ______.
Triploidy
NT thickening can be an indicator of ______
Triploidy
Ventriculomegaly, Syndactyly of the 3rd and 4th digits are the most common findings in ______
Triploidy
Trisomy 13 is known as ______ Syndrome
Patau
Trisomy 18 is known as ____-Syndrome
Edward
Microcephaly, facial anomalies, and polydactyly are common in Trisomy ______.
13
Strawberry shaped head, choroid cysts, clenched hands, spina bifida are signs of Trisomy ___
18
Nuchal thickening, cardiac defects, Sandal Gap, and clinodactyly are signs of Trisomy ____
21
