Genetic Issues Pre-conception eval

Question 1

Genetic Disorders in certain ethnic populations
Ashkenazi Jews
Consanguinity
(6)

Answer 1

1) Thalassemia
2) Hemoglobinopathies
3) Cystic fibrosis
4) Tay Sachs
5) Spinal muscular dystrophy
7) Deafness

Question 2

4 most common causes of primary amenorrhea

Answer 2

1) Gonadal dysgenesis (48%)
2) MRKH (16%)
3) GnRH deficiency (8.3%)
4) Constitutional delay

Question 3

Associated autosomal dominant mutations with advanced paternal age > 40 y/o (8)

Answer 3

1) Aperts syndrome
2) Achondroplasia
3) Treacher Collins syndrome
4) Marfan syndrome
5) Neurofibromatosis
6) Waardenburg syndrome
7) Thanatophoric dysplasia
8) Osteogenesis imperfecta

Question 4

7 birth defects associated with maternal obesity

Answer 4

1) NTD
2) Cardiac
3) Diaphragmatic hernia
4) Omphalocele
5) hypospadias
6) Limb reduction
7) Anorectal atresia

Question 5

Folic acid supplementation to reduce incidence and recurrence of congenital anomalies (5)

Answer 5

1) NTD
2) oral facial celfts
3) congenital heart disease
4) urinary tract anomalies
5) Limb defects