ABGC CERT EXAM QUESTIONS AND ANSWERS

1. Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21? A. nuchal thickening B. duodenal atresia C. echogenic bowel D. choroid plexus cyst - Answer-D 2. A 20-year-old man and his family are seen for genetic counseling to discuss his recent diagnosis of Charcot-Marie-Tooth (CMT) disease. After introductions, which of the following would be the BEST next step for the genetic counselor to take? A. explain the recurrence risks of CMT B. ask them what they have been told about CMT C. collect a family and medical history D. review the results of his genetic testing - Answer-B 3. A 30-year-old woman who had a previous stillbirth comes for prenatal genetic counseling because her serum screening results show a very low estriol with relatively normal levels of AFP, hCG, and inhibin. To help determine the MOST likely diagnosis for this pregnancy, the genetic counselor should inquire about which of the following abnormalities in the stillborn child? A. hypospadias and congenital heart defect B. hydrocephalus and adducted thumbs C. absent radii and cystic kidneys D. short limbs and polydactyly - Answer-A 4. A 35-year-old woman comes for genetic counseling because of a family history of polycystic kidney disease (PKD) consistent with autosomal dominant inheritance and confirmed by review of medical records. Genetic testing has not been performed. The woman's renal ultrasound showed a single unilateral kidney cyst. The patient states, "Now that I have PKD, my children are at 50% risk to have it, too. They need to have DNA testing." Which of the following is the BEST response to the patient's statement? A. agree that she meets diagnostic criteria and recommend her children have DNA testing B. agree that she meets diagnostic criteria and recommend her children have renal ultrasounds C. explain that she does not meet diagnostic criteria and recommend an affected relative have DNA testing D.