Patterns of Fetal Anomalies Flashcards
A pattern of multiple anomalies related to a single causative factor or pathology
Syndrome
T or F? Trisomy is considered an association
False: It is considered a syndrome because trisomy’s have multiple anomalies associated with that one syndrome
A pattern of multiple anomalies not related to a single causative factor or pathology
Association
Is a 2V cord known as an association or sequence?
Association
A pattern of multiple anomalies that results from an initial single anomaly
Sequence
Is pulmonary hypoplasia considered an association or sequence?
Sequence
What is it called when the tissue in an anomaly is abnormal from the start?
Malformation
What is it called when tissue is acted upon by an outside force resulting in an abnormal shape or position?
Deformation
An anomaly where the structure breaks down due to some form of insult
Disruption
When structure of tissue lacks its normal cell organization?
Dysplasia
Are germ cells haploid or diploid?
Haploid
How many autosomes and sex cells are in a haploid cell?
22 autosomes and 1 sex chromosome
Are somatic cells haploid or diploid?
Diploid
How many autosomes and sex cells are in a diploid/somatic cell?
(23 pairs of chromosomes) 22 pairs of autosomes and 2 sex chromosomes
What type of cell goes through mitosis?
Somatic
How many daughter cells occur due to mitosis?
2
What type of cell goes through meiosis?
Germ / haploid
How many daughter cells occur due to meiosis?
4
What is the term used for changes in number of chromosomes present?
Heteroploidy
What is the term for integral multiples of the haploid number of chromosomes and all cells are affected equally?
Euploidy
Is tripoloidy an example of heteroploidy, aneuploidy, or euploidy?
Euploidy
What is the term for either having one less or one extra chromosome?
Aneuploidy
Is trisomy an example of heteroploidy, euploidy, or aneuploidy?
Aneuploidy
T or F? Multifactorial inheritance is due to both genetic and non-genetic conditions?
TRUE
What are the risk factors for chromosomal abnormalities?
- Increased maternal age
- Previous pregnancy with chromosomal abnormalities
- Previous early pregnancy loss
What is responsible for decongigating estriol?
Placenta
What organs synthesize estriol?
Adrenal gland and liver
What levels are elevated and decreased in Trisomy 21 in second trimester?
Elevated = hCG and Inhibin A
Decreased = MSAFP and uE3
What is the classic sonographic feature of BWS?
Macroglossia
Macrosomia
Hemi-hyperplasia
In what abnormality can facial nevus flammeus be seen?
BWS
Meckel-gruber’s classic findings include?
- Echogenic kidneys due to polycystic disease
- Limb anomalies - polydactyly
- Encephalocele
What syndrome is also known as Monosomy X?
Turner Syndrome
What is the chromosomal makeup of turner syndrome?
45 (XO)
T or F? Turner syndrome mostly affects males
False: Only affects females and due to missing chromosome from paternal contribution
What is the classic sonographic finding of Turner syndrome?
Cystic hygroma
Malformations associated with potter sequence traces its cause to what?
Oliogohydramnios
What is the term for abnormal facial features in potter sequences?
Potter facies
What is diandry?
When two sperms fertilize one egg
What is digyny?
An extra chromosome set from the mother
What SF is seen in the first trimester with Triploidy?
NT thickening
In triploidy, when an extra chromosome is given by the father, what two things occur (partial hydatidiform mole) ?
Large placenta
symmetric IUGR
In triploidy, when the extra chromosomes come from the mother, what two things occur?
Small placenta
Asymmetric IUGR
What are the most common sonographic findings in triploidy?
- Ventriculomegaly
- Syndactyly of the third and fourth digit
What is mosaic trisomy 13?
When he or she has the extra chromosome in some but not all of their cells
T or F? Most trisomy babies survive until birth
True
Common findings in Patau syndrome?
- Holoprosencephaly
- Facial defects
- Clubfeet
- Omphalocele
Survivors of Trisomy 13 may suffer from?
- Hypotonia or hypertonia
- Seizures
What is the second most common trisomy?
Trisomy 18 and more common in females
Screening values seen in Trisomy 18
Low triple screen values: hCG, MSAFP, and uE3
Every organ system may have identifiable sonographic features in what abnormality?
Trisomy 18
What abnormality is related to “strawberry skull”?
Trisomy 18
T or F? NT thickening is greater in Trisomy 18 than 21
True
Sonographic features of Trisomy 18
- Strawberry skull
- Increased NT
- Clenched hands
- ASD and VSD
Abnormal hand posturing, growth restriction, and polyhydraminos is indicative of what abnormality and in what trimester are these seen?
Trisomy 18 - 3rd trimester
T or F? Maternal disjunction accounts for most cases of trisomy 21
FALSE: maternal NONdisjunction accounts for most cases
First trimester features seen in Trisomy 21?
- Increased NT
- Reversed ductus venosus flow
- TR
- Absent or hypoplastic nasal bone
T or F? VACTERL association is thought to be “X” linked
TRUE
Multiple defects in VACTERL association are usually due to what factors? (hint: environmental)
Environmental:
1. progesterone-estrogen
2. BCP
3. Lead exposure
4. Maternal diabetes
Oligohydramnios is used interchangeably with what abnormality?
Potter sequence
In the first trimester, what levels are increased or decreased in Triploidy?
Elevated = hCG, NT, MSAFP
Low = PAPP-A
In second trimester, what levels are increased or decreased in Triploidy?
Low hCG, uE3, and AFP
In the first trimester, what values are elevated or decreased in Trisomy 21?
Elevated = NT, hCG
Decreased = PAPP-A
In what syndrome does second trimester triple screen not provide benefit but quadruple screen does?
Trisomy 13 (Patau)
What values are increased or decreased in Trisomy 18?
Triple screen values are all LOW
-hCG
-uE3
-MSAFP
In Trisomy 21, the median life span is 49 years. Mortality is most often associated with what?
Cardiac defects
