Questions and Answers
Which of the following is a characteristic associated with Trisomy 18?
Frontal Bossing
Which chromosomal abnormality is associated with an increased risk of congenital diaphragmatic hernia?
Trisomy 18
Which cardiac abnormality is strongly associated with Trisomy 21?
Atrioventricular septal defect
Which gastrointestinal abnormality is associated with Trisomy 21?
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Which abdominal wall abnormality is most commonly associated with Trisomy 18?
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Which genitourinary abnormality is most commonly associated with Trisomy 21?
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Which skeletal abnormalities is associated with Trisomy 18?
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Which of the following is the most common aneuploidy associated with microcephaly?
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Which of the following is the HIGHEST risk aneuploidy abnormality associated with the central nervous system?
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Which of the following is NOT a facial abnormality associated with aneuploidy?
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Which of the following is NOT a marker for increased risk of Down syndrome in the second trimester ultrasound?
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Which of the following abnormalities is associated with the highest risk of aneuploidy in central nervous system?
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Which of the following head shapes is associated with Trisomy 18?
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Which of the following is an important factor for detecting chromosomal abnormalities in a fetus?
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What is the purpose of nuchal translucency screening ultrasound?
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What does a nuchal translucency measurement of 2.5 mm or greater at 11-14 weeks GA indicate?
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When is nuchal translucency screening ultrasound typically performed?
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What is the main purpose of ultrasound screening for chromosomal abnormalities in the second trimester is?
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What is the abnormal measurement for nuchal translucency between 11-14 weeks gestational age?
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Which chromosomal abnormality is associated with a short femur?
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Which chromosomal abnormality is associated with a widened iliac angle?
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Which chromosomal abnormality is associated with hand and foot abnormalities?
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Which chromosomal abnormality is associated with a clenched hand with overlapping fingers?
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Which chromosomal abnormality is associated with rocker bottom feet?
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Which chromosomal abnormality is associated with clinodactyly of the 5th finger?
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Which chromosomal abnormality is associated with sandal gap toes?
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Which chromosomal abnormality is associated with polydactyly?
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Which chromosomal abnormality is associated with a single umbilical artery?
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Study Notes
Chromosomal Abnormalities and Associated Characteristics
- Trisomy 18 is associated with an increased risk of congenital diaphragmatic hernia and omphalocele.
- Trisomy 21 is strongly associated with atrioventricular canal defects.
- Trisomy 21 is associated with duodenal atresia and imperforate anus.
- Trisomy 18 is associated with omphalocele.
- Trisomy 21 is associated with hydronephrosis and cryptorchidism.
- Trisomy 18 is associated with clubfoot and rocker bottom feet.
- Aneuploidy is associated with microcephaly.
- Trisomy 21 is the highest risk aneuploidy associated with central nervous system abnormalities.
- Macrocephaly is not a facial abnormality associated with aneuploidy.
- A single umbilical artery is not a marker for increased risk of Down syndrome in the second trimester ultrasound.
- Ventriculomegaly is associated with the highest risk of aneuploidy in the central nervous system.
- Trisomy 18 is associated with a narrow bifrontal diameter.
- Maternal age is an important factor for detecting chromosomal abnormalities in a fetus.
- The purpose of nuchal translucency screening ultrasound is to detect increased risk of aneuploidy.
- A nuchal translucency measurement of 2.5 mm or greater at 11-14 weeks gestational age indicates an increased risk of aneuploidy.
- Nuchal translucency screening ultrasound is typically performed between 11-14 weeks gestational age.
- The main purpose of ultrasound screening for chromosomal abnormalities in the second trimester is to detect major fetal anomalies.
- A nuchal translucency measurement of 3.5 mm or greater between 11-14 weeks gestational age is abnormal.
- Trisomy 21 is associated with a shortened femur.
- Trisomy 21 is associated with a widened iliac angle.
- Trisomy 21 is associated with hand and foot abnormalities, including clenched hands with overlapping fingers, rocker bottom feet, and sandal gap toes.
- Trisomy 18 is associated with polydactyly and single umbilical artery.
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