Chapter 30 Chromosomal Abnormalities Flashcards
Echogenic small bowel is most often associated with:
Down syndrome
_______is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males?
Klinefelter syndrome
Webbed fingers or toes are termed:
Syndactyly
Cyclopia would most likely be associated with:
Trisomy 13
Patau syndrome
Sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely?
Trisomy 13
Patau syndrome
Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for:
Down syndrome
The triple screen typically includes (3):
- Alpha-fetoprotein
- Estriol
- hCG
Normal diploid cells have:
46 chromosomes
Another name for patau syndrome is:
Trisomy 13
Rounded head shape is referred to as:
Brachycephaly
With what syndrome is brachycephaly most often associated with?
Down syndrome
Advanced maternal age is considered to be:
> 35 years of age
With what procedure is placental tissue obtained?
CVS
The bending of the fifth digit toward the fourth digit is called:
Clinodactyly
Pelvocaliectasis refers to:
Dilation of the renal pelvis and calices
A strawberry-shaped skull is associated with:
Edwards syndrome
(18)
Monosomy X refers to:
Turner syndrome
The term for small eyes is:
Microphthalmia
Fusion of the orbits and holoprosencephaly are associated with:
Patau syndrome
What is macroglossia most often associated with?
Trisomy 21 (Down Syndrome)
What is another name for the most common chromosomal abnormality?
Down syndrome
Theca lutein cysts would most likely be linked with a molar pregnancy and ______
Triploidy
A molar pregnancy, omphhalocele and small, low-set ears are found often with:
Triploidy
Webbing of the neck and short stature is found in infertile female patients with a history of:
Turner syndrome
The earliest invasive fetal karyotyping technique that can be performed is:
CVS
Cleft lip, hypotelorism, and microphthalmia are all sonographic features of:
Trisomy 13
(Patau Syndrome)
A structural abnormality that results from an abnormal development describes:
Malformation
A large space between the first and second toes is termed:
Sandal gap
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:
Turner syndrome
What are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?
Chorionic villi
The maternal serum screening of a mother with a fetus with trisomy 18 will reveal:
Decreased hCG, alpha-fetoprotein, and estriol
Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for:
Trisomy 21
Bilateral choroid plexus cysts, micrognathia and rockerbottom feet are sonographic findings of a 27 week fetus with omphalocele:
Trisomy 18
Edward’s syndrome
A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth has:
Triploidy
Fetuses with edward syndrome have an extra ______
Chromosome 18
Advanced maternal age is considered to be:
35+ years
Fetuses with _____have an extra chromosome 21
Down syndrome
______is the most common chromosomal abnormality
Down syndrome
The fetus with ______ has an extra chromosome 13
Patau syndrome
______is a chromosomal abnormality in which the fetus has 69 chromosomes instead of the normal 46
Trioloidy
______is the buildup of fluid within at least two fetal body cavities
Nonimmune hydrops
_______is a male chromosomal anomaly that can result in hypogonadism, small testis, tall stature, long legs and arms and gynecomastia
Klinefelter syndrome
The normal cell has ____chromosomes
46
AFP is produced in the:
Yolk sac and fetal liver
Estriol and hCG are produced by the:
Placenta
______is when the fetus has only one sex chromosome
Turner syndrome (monosomy X)
______is a condition in which there are an abnormal number of whole chromosomes
Aneuploidy
______is a specific type of aneuploid in which there is an additional copy of the chromosome 18
Edwards syndrome
______is an analysis of fetal chromosomes and is frequently recommended for women who are considered to be of advanced maternal age
Fetal karyotyping
Maternal serum screening results of Patau syndrome
- Not always beneficial and depends upon the anomaly present
Maternal serum screening results of triploidy
- Elevated hCG in the presence of a molar pregnancy
First trimester sonographic findings of triploidy
- Cystic spaces seen within an enlarged placenta (molar pregnancy)
- Fetal demise
- Bilateral ovarian theca lutein cysts
Maternal serum screening results of down syndrome
- Low MSAFP
- Low estriol
- High hCG
- Low PAPP-A
- High inhibin A
Maternal serum screening results of edward syndrome
- Low AFP
- Low estriol
- Low hCG
- Low inhibin A
- Low PAPP-A
Maternal serum screening results of turner syndrome
- Low estriol
- Low AFP
- Low hCG (with hydrops)
- Low inhibin A ( with hydrops)
- Low PAPP-A
Sonographic findings turner syndrome
- Increased NT
- Cystic hygroma
- Renal anomalies(horse-shoe kidney and renal agenesis)
- Cardiac defects
- Nonimmune hydrops
- Female
Sonographic findings edwards syndrome
- Strawberry shaped skull
- Choroid plexus cyst
- Micrognathia
- Rockerbottom feet
- Omphalocele
- Clenched fists
- Single umbilical artery
Sonographic findings of Patau syndrome (13):
- Microcephaly
- Polydactyly
- Holoprosencephaly
- Ventriculomegaly
- Hydrocephalus
- Agenesis of the corpus callosum
- Small, low-set ears
- Facial anomalies
- Cardiac defects
- Omphalocele
- Nonimmune hydrops
- Renal anomalies
- Clubfoot
Second and third trimester sonographic findings of triploidy
- Holoprosencephaly
- Dandy-walker malformation
- Agenesis of the corpus callosum
- Hydrocephalus
- Facial abnormalities
- Small, low set ears
- Cardiac defects
- Renal anomalies
- IUGR
- Omphalocele
- Syndactyly
- Single umbilical artery
- Clubfeet
