fetal genetic disorder Flashcards

1
Q

achondroplasia

A

skeletal characterized by abnormal long bone growth can cause hydrops fetalis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Beckwith-wiedemann Syndrome

A

congenital disorder of growth with a predisposition to tumor development
- polyhydramnios, omphacele ( birth defect where child’s organs protrude through abdominal wall)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Turner syndrome

A

US: hydrops fettles, nuchal thickening, cystic hygroma

affects females, female on the the outside but no breast and lack of ovarian functions

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

mullerian agenesis

A

normal female traits on the outside but missing mullerian structures
(uterus and cervix)
- kidney and Mullerian structures develop together so people with this conditions will also have renal abnormalities, evaluate with renal ultrasonography “(unilateral renal agenesis, pelvic kidneys, duplication of collecting system )

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

a single placenta, and a thin intertwin membrane that meets the placenta at 90 degreees indicates

A

single placenta, 2 amniotic sacs

twin transfusion synsdrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

trisomy 18

A

severe growth restriction, bilateral choroid plexus, clenched fists, large. ventricular septa defect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

complications of polyhydramnios include

A
  • umbilical cord prolapse,
    -PROM
    -Preterm labor
    -fetal malpresentation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

44contraindications to breastfeesing

A

galactosemia = ipaired galactose metabolism

How well did you know this?
1
Not at all
2
3
4
5
Perfectly