A 40-year-old woman in her 18th week of pregnancy based on the last menstrual period (LMP) presents to her obstetrician for an antenatal check-up. The antenatal testing is normal, except the quadruple screen results which are given below: Maternal serum alpha-fetoprotein (MS-AFP) low Unconjugated estriol low Human chorionic gonadotropin (hCG) high Inhibin-A high Which of the following conditions is the most likely the cause of the abnormal quadruple screen?
AFetal alcohol syndrome
BSpina bifida
CGastroschisis
DTrisomy 21
EOmphalocele
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?
AAnatomy ultrasound
BGenetic testing of patient’s sister
CChorionic villus sampling
DNuchal translucency test
EAmniocentesis
A 35-year-old woman gravida 2, para 1, comes to the physician for her first prenatal visit. Pregnancy and delivery of her first child were uncomplicated. She is not sure about the date of her last menstrual period. Pelvic examination shows a uterus consistent in size with a 10-week gestation. An ultrasound examination confirms the gestational age and shows one fetus with no indication of multiple gestations. During counseling on pregnancy risks and possible screening and diagnostic tests, the patient states she would like to undergo screening for Down syndrome. She would prefer immediate and secure screening with a low risk to herself and the fetus. Which of the following is the most appropriate next step in management at this time?
ANuchal translucency, pregnancy-associated plasma protein-A, human chorionic gonadotropin
BMaternal serum α-fetoprotein, human chorionic gonadotropin, unconjugated estriol, and inhibin A
CChorionic villus sampling
DAmniocentesis
ECell-free fetal DNA testing
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