A 36-year old pregnant woman (gravida 4, para 1) presents at week 11 of pregnancy. Currently, she has no complaints. She had an uncomplicated 1st pregnancy that ended in an uncomplicated vaginal delivery at the age of 28 years. Her male child was born healthy, with normal physical and psychological development over the years. Two of her previous pregnancies were spontaneously terminated in the 1st trimester. Her elder sister has a child born with Down syndrome. The patient denies smoking and alcohol consumption. Her blood analysis reveals the following findings: Measured values Beta human chorionic gonadotropin (beta-hCG) High Pregnancy-associated plasma protein-A (PAPP-A) Low Which of the following is the most appropriate next step in the management of this patient?
APerform an ultrasound examination with nuchal translucency and crown-rump length measurement
BRecommend chorionic villus sampling with subsequent cell culturing and karyotyping
COffer a blood test for rubella virus, cytomegalovirus, and toxoplasma IgG
DRecommend amniocentesis with subsequent cell culturing and karyotyping
ESchedule a quadruple test at the 15th week of pregnancy
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 26-year-old pregnant woman (gravida 2, para 1) presents on her 25th week of pregnancy. Currently, she has no complaints. Her previous pregnancy was unremarkable. No abnormalities were detected on the previous ultrasound (US) examination at week 13 of pregnancy. She had normal results on the triple test. She is human immunodeficiency virus (HIV), hepatitis B virus (HBV), and hepatitis C virus (HCV)-negative. Her blood type is III(B) Rh+, and her partner has blood type I(0) Rh-. She and her husband are both of Sardinian descent, do not consume alcohol, and do not smoke. Her cousin had a child who died soon after the birth, but she doesn't know the reason. She does not report a history of any genetic conditions in her family, although notes that her grandfather “was always yellowish-pale, fatigued easily, and had problems with his gallbladder”. Below are her and her partner’s complete blood count and electrophoresis results. Complete blood count Patient Her husband Erythrocytes 3.3 million/mm3 4.2 million/mm3 Hb 11.9 g/dL 13.3 g/dL MCV 71 fL 77 fL Reticulocyte count 0.005 0.008 Leukocyte count 7,500/mm3 6,300/mm3 Platelet count 190,000/mm3 256,000/mm3 Electrophoresis HbA1 95% 98% HbA2 3% 2% HbS 0% 0% HbH 2% 0% The patient undergoes ultrasound examination which reveals ascites, liver enlargement, and pleural effusion in the fetus. Further evaluation with Doppler ultrasound shows elevated peak systolic velocity of the fetal middle cerebral artery. Which of the following procedures can be performed for both diagnostic and therapeutic purposes in this case?
AFetoscopy
BCordocentesis
CPercutaneous fetal thoracentesis
DChorionic villus sampling
EAmniocentesis
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