First trimester screening — MCQs

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?

A 37-year-old primigravid woman comes to the physician at 13 weeks' gestation for a prenatal visit. She feels well. Her only medication is folic acid. Vital signs are within normal limits. Pelvic examination shows a uterus consistent in size with a 13-week gestation. Ultrasonography shows a nuchal translucency above the 99th percentile. Maternal serum pregnancy-associated plasma protein A is decreased and human chorionic gonadotropin concentrations are elevated to 2 times the median level. Which of the following is most likely to confirm the diagnosis?

A 38-year-old woman, gravida 3, para 2, at 12 weeks' gestation comes to her obstetrician for a prenatal visit. Screening tests in the first trimester showed a decreased level of pregnancy-associated plasma protein and an increased level of β-hCG. A genetic disorder is suspected. Which of the following results from an additional diagnostic test is most likely to confirm the diagnosis?

A 28-year-old G2P1 female is concerned that she may give birth to another child with Down syndrome. She states that she may not be able to take care of another child with this disorder. Which of the following tests can confirm the diagnosis of Down syndrome in utero?

A 25-year-old G1P0000 presents to her obstetrician’s office for her first prenatal visit. She had a positive pregnancy test 6 weeks ago, and her last period was about two months ago, though at baseline her periods are irregular. Aside from some slight nausea in the mornings, she feels well. Which of the following measurements would provide the most accurate dating of this patient’s pregnancy?

A 19-year-old woman presents for a sports physical. She says she feels healthy and has no concerns. Past medical history is significant for depression and seasonal allergies. Current medications are fluoxetine and oral estrogen/progesterone contraceptive pills. Family history is significant for a sister with polycystic ovarian syndrome (PCOS). The patient denies current or past use of alcohol, recreational drugs, or smoking. She reports that she has been on oral birth control pills since age 14 and uses condoms inconsistently. No history of STDs. She is sexually active with her current boyfriend, who was treated for chlamydia 2 years ago. She received and completed the HPV vaccination series starting at age 11. Her vital signs include: temperature 36.8°C (98.2°F), pulse 97/min, respiratory rate 16/min, blood pressure 120/75 mm Hg. Physical examination is unremarkable. Which of the following are the recommended guidelines for cervical cancer screening for this patient at this time?

A 45-year-old woman presents with a history of cervical erosion and spotting for the past 2 months. What is the next best step?

The following set of instruments are used for which procedure?

A mother presents to the family physician with her 16-year-old son. She explains, "There's something wrong with him doc. His grades are getting worse, he's cutting class, he's gaining weight, and his eyes are often bloodshot." Upon interviewing the patient apart from his mother, he seems withdrawn and angry at times when probed about his social history. The patient denies abuse and sexual history. What initial test should be sent to rule out the most likely culprit of this patient's behavior?

A 36-year-old G3P2002 presents to her obstetrician’s office for her first prenatal visit at ten weeks and two days gestation. She notes that she has felt nauseous the last several mornings and has been especially tired for a few weeks. Otherwise, she feels well. The patient has had two uncomplicated spontaneous vaginal deliveries at full term with her last child born six years ago. She is concerned about the risk of Down syndrome in this fetus, as her sister gave birth to an affected child at age 43. The patient has a history of generalized anxiety disorder, atopic dermatitis, and she is currently on escitalopram. At this visit, this patient’s temperature is 98.6°F (37.0°C), pulse is 70/min, blood pressure is 121/67 mmHg, and respirations are 13/min. The patient appears anxious, but overall comfortable, and cardiopulmonary and abdominal exams are unremarkable. Pelvic exam reveals normal female external genitalia, a closed and slightly soft cervix, a ten-week-sized uterus, and no adnexal masses. Which of the following is the best next step for definitively determining whether this patient’s fetus has Down syndrome?