Chapter·PediatricsGenetic disorders

Down syndromeDownloads

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1

A 32-year-old woman, gravida 2, para 1, at 14-weeks' gestation comes to the physician for a prenatal visit. Routine first trimester screening shows increased nuchal translucency, decreased β-hCG concentration, and decreased levels of pregnancy-associated plasma protein A. Amniocentesis shows trisomy of chromosome 13. This fetus is at increased risk for which of the following?

ADuodenal atresia

BCutis aplasia

CCystic hygroma

DOptic glioma

EProminent occiput

2

A 37-year-old woman presents for prenatal counseling at 18 weeks gestation. The patient tells you that her sister recently had a child with Down's syndrome, and the patient would like prenatal screening for Down's in her current pregnancy. Which of the following prenatal screening tests and results would raise concern for Down's syndrome?

AIncreased AFP, normal HCG, normal unconjugated estriol

BDecreased AFP, decreased HCG, decreased unconjugated estriol

CNormal AFP, increased HCG, decreased unconjugated estriol

DNormal AFP, decreased HCG, decreased unconjugated estriol

EDecreased AFP, increased HCG, decreased unconjugated estriol

3

A 23-year-old pregnant woman (gravida 1, para 0) presents during her 16th week of pregnancy for a check-up. The course of her current pregnancy is unremarkable. She had normal results on the previous ultrasound examination. Her human chorionic gonadotropin (hCG) level measured at week 12 of pregnancy was 0.9 multiples of the normal median (MoM). She is human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV)-negative. She undergoes a quadruple test which shows the following results: Serum alpha-fetoprotein Low Unconjugated estriol Low Beta-hCG High Inhibin A High The risk of which condition indicates these results?

ATrisomy 21

BTrisomy 18

CNeural tube defect

DCongenital toxoplasmosis

ETrophoblastic disease

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