Reproductive 1 and 2

Question 1

Causes of false positive NIPTS

Answer 1

• Vanishing twin
• Widespread genomic imbalance (Maternal Cancer)
• Maternal aneuploidies
• confined placental mosaicism

Question 2

Casues of false negative NIPTS due to low fetal fraction

Answer 2

• Early gestation
• Increase BMI
• Aneuploidy (13,18,21,triploidy)

Question 3

Should a pregnancy found to have enlarged NT on 1st trimester screen still be offered diagnostic procedure

Answer 3

Yes. many NT can resolve by the 2nd trimester and still be asspciated with aneuploidy

Question 4

Aneuploidy most associated with AV canal defect, absent nasal bone and double bubble on ultrasound

Answer 4

• Trisomy 21

Question 5

Aneuploidy most likly associated with clenhed hands and polyhydramnios

Answer 5

Trisomy 18

Question 6

Omphalocele or Gastroschesis

• More associated with aneuploidy and genetic syndrome

Answer 6

• Omphalocele

Question 7

Omphalocele or Gastroschesis

• Thought to be caused by a vascular accident

Answer 7

• Gastroschesis

Question 8

Omphalocele or Gastroschesis

• Associated with young age, smoking and cocaine use

Answer 8

• Gastroschesis

Question 9

Omphalocele or Gastroschesis

• Usually found to the right of the umbilicus

Answer 9

• Gastroschesis

Question 10

Omphalocele or Gastroschesis

• Has peritoneal covering

Answer 10

• Omphalocele

Question 11

WHO 2010 Seman Analysis Sperm concenration

Answer 11

>/= 15 million spermatozoa/mL

Question 12

Men with ______ are highest risk for being carriers of genetic anomalies

Answer 12

azoospermia

Question 13

Risk of genetic anomalies _____ progressively with increasing sperm output

Answer 13

decreases

Question 14

% risk for genetic anomalies in men with azoospermia

Answer 14

25%

Question 15

______ testing must be performed before TESE (Testicular sperm extraction)

Answer 15

• AZF microdeletion
• AZFa and AZFb virtually no chance of sperm recovery

Question 16

Most common anomaly in non-obstructive azoospermia

Answer 16

• Kleinefelter 47, XXY
• Typically small firm testes with hyalinized seminiferous tubules and spematagenic failure
• >90% azoospermia

Question 17

46, XX Testicular DSD

80-90% have translocation of ______ onto the X chromosome

Answer 17

SRY

Question 18

46, XX Testicular DSD

Abscence of these regions on the Y chromosome leads to no spermatogenesis

Answer 18

• Y Chromosome
• No AZF regions, no spermatogenesis

Question 19

% of men with CBAVD identified to have mutations in CFTR gene

Answer 19

80%

Question 20

% of men with obstructive azoospermia found to have CBAVD

Answer 20

25%

Question 21

Intron ___ CFTR variants (IVS8-5T, -7T, -9T) affect spicing of exon ___ and transcript of full length CFTR.

Answer 21

8;9

Question 22

5T in ____ with R117H causes:CBAVD

Answer 22

trans

Question 23

20% of patients with CBAVD and 80% of patients with CUAVD have no mutation found and should consider testing for ______

Answer 23

• X-linked
• ADGRG2
• Xp22