Chapter 30 Chromosomal abnormality Flashcards
A 38 year old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetaprotein and estriol are low, while her human chorionic ganadotropin is elevated. These laboratory findings are most consistent with?
Down Syndrome
The triple screen typically includes:
alpha fetoprotein, estriol, and human chorionic ganadortopin
Rounded head shape is referred to as:
bracheycephaly
brachycephaly is associated most often with which syndrome?
Down syndrome
Advanced maternal age is considered to be?
> 35 years of age
A molar pregnancy, omphalocele and small low set ears are found most often with?
Triploidy
Placental tissue is obtained with what procedure?
Chorionic Sampling
The bending of the fifth digit toward the fourth digit is called?
Clinodactyly
Webbing of the neck and short stature is found in infertile female patients with a history of:
Turner syndrome
The earliest fetal karyotyping technique that can be performed is?
Chorionic villi sampling
A strawberry-shape skull is associated with?
Edwards syndrome
Cleft lip, hypoterlorism, and microphthalmia are all sonographic features of?
Trisomy 13
Monosomy X refers to?
Turner Syndrome
A 22 week gestation fetus with clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. These findings are consistent with?
Trisomy 21
The term for small eyes?
microphthalmia
The maternal serum screening of a mother with a fetus with trisomy 18 will reveal:
Decreased human chorionic gonadotropin, alpha-fetoprotein, and estriol
Fusion of the orbits and holoprosencephaly are associated with?
Patau Syndrome
A structural abnormality that results form an abnormal development describes?
malformation
Absent nasal bones and an increased nuchal fold measurement is most consistent with the sonographic markers for?
Trisomy 21
A large space between the first and second toe is termed?
Sandal Gap
Bilateral choroid plexus cysts, micrognathia and rockerbottom feet are sonographic findings of a 27 week fetus with an omphalocele. These findings are most consistent with?
Trisomy 18
nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by
Turner syndrome
Macroglossia most often associated with?
Trisomy21
A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has?
Triploidy
Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for?
Down syndrome
Sonographically you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely?
Trisomy 13
Which protein is not produced by the developing placenta?
Alpha-fetaprotein
Which of the following laboratory findings would not be consistent with Trisomy 21? A) high AFP B) low estriol C)high HCG D) Low PAPP-A
High AFP
Cyclopia would most likely be associated with?
Trisomy 13
Webbed fingers or toes are termed?
Syndactyly
