Reproductive 1 and 2 Flashcards
Causes of false positive NIPTS
- Vanishing twin
- Widespread genomic imbalance (Maternal Cancer)
- Maternal aneuploidies
- confined placental mosaicism
Casues of false negative NIPTS due to low fetal fraction
- Early gestation
- Increase BMI
- Aneuploidy (13,18,21,triploidy)
Should a pregnancy found to have enlarged NT on 1st trimester screen still be offered diagnostic procedure
Yes. many NT can resolve by the 2nd trimester and still be asspciated with aneuploidy
Aneuploidy most associated with AV canal defect, absent nasal bone and double bubble on ultrasound
- Trisomy 21
Aneuploidy most likly associated with clenhed hands and polyhydramnios
Trisomy 18
Omphalocele or Gastroschesis
- More associated with aneuploidy and genetic syndrome
- Omphalocele
Omphalocele or Gastroschesis
- Thought to be caused by a vascular accident
- Gastroschesis
Omphalocele or Gastroschesis
- Associated with young age, smoking and cocaine use
- Gastroschesis
Omphalocele or Gastroschesis
- Usually found to the right of the umbilicus
- Gastroschesis
Omphalocele or Gastroschesis
- Has peritoneal covering
- Omphalocele
WHO 2010 Seman Analysis Sperm concenration
>/= 15 million spermatozoa/mL
Men with ______ are highest risk for being carriers of genetic anomalies
azoospermia
Risk of genetic anomalies _____ progressively with increasing sperm output
decreases
% risk for genetic anomalies in men with azoospermia
25%
______ testing must be performed before TESE (Testicular sperm extraction)
- AZF microdeletion
- AZFa and AZFb virtually no chance of sperm recovery
Most common anomaly in non-obstructive azoospermia
- Kleinefelter 47, XXY
- Typically small firm testes with hyalinized seminiferous tubules and spematagenic failure
- >90% azoospermia
46, XX Testicular DSD
80-90% have translocation of ______ onto the X chromosome
SRY
46, XX Testicular DSD
Abscence of these regions on the Y chromosome leads to no spermatogenesis
- Y Chromosome
- No AZF regions, no spermatogenesis
% of men with CBAVD identified to have mutations in CFTR gene
80%
% of men with obstructive azoospermia found to have CBAVD
25%
Intron ___ CFTR variants (IVS8-5T, -7T, -9T) affect spicing of exon ___ and transcript of full length CFTR.
8;9
5T in ____ with R117H causes:CBAVD
trans
20% of patients with CBAVD and 80% of patients with CUAVD have no mutation found and should consider testing for ______
- X-linked
- ADGRG2
- Xp22
