A newlywed couple comes to your office for genetic counseling. Both potential parents are known to be carriers of the same Cystic Fibrosis (CF) mutation. What is the probability that at least one of their next three children will have CF if they are all single births?
A37/64
B0
C1/64
D1
E27/64
A 39-year-old pregnant woman at 16 weeks gestation recently underwent a quad-screen which revealed elevated beta-hCG, elevated inhibin A, decreased alpha-fetoprotein, and decreased estradiol. An ultrasound was performed which found increased nuchal translucency. Which of the following is recommended for diagnosis?
ABiopsy and pathologic examination of fetus
BConfirmatory amniocentesis and chromosomal analysis of the fetal cells
CFetus is normal, continue with pregnancy as expected
DMaternal karyotype
ECell-free fetal DNA analysis
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
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