Ob/gyn Blueprints Ch 3

Front 1

Typical phenotype of Down Syndrome:

Back 1

Down syndrome: short stature, classic facies, developmental delay, mental retardation

Front 2

Down syndrome associated anomalies:

Back 2

Down syndrome associated anomalies: cardiac defects, duodenal atresia or stenosis, short limbs.

Front 3

How is Down Syndrome screened ?

Back 3

Down screening by Quad Screen (MSAFP, hCG, estriol, Inhibin A) at 15-20 wks Gestation.

Sensitivity 80%

Front 4

What is the 1st Trimester screen for Down Syndrome:

Back 4

Combined Ultrasound and Serum analytes free Beta-hCG w/ Pregnancy Associated Plasma Protein A (PAPP-A).

Sensitivity of Combo is 80%.

More effective than 2nd trimester screening.

Front 5

Describe Trisomy 18

Back 5

Trisomy 18:

Edward Syndrome, often death before 2, classic signs: clenched fist, overlapping digits, rocker bottom feet.

Additional complications:
VSD and ToF, omphalocele, congenital diaphragmatic hernia, nerual tube defects, and choroid plexus cysts.

Front 6

Describe Trisomy 13:

Back 6

Patau Syndrome, 85% die before age 1, Commonly includes: holoprosencephaly, cleft lip/palate, cystic hygroma, nose deformity, omphalocele, heart and limb anomalies.

heart anomalies: hypoplastic left heart

limb anomalies: clubfoot, polydactyly, overlapping fingers.

Front 7

How are Trisomy 21, 18, and 13 diagnosed?

Back 7

Trisomy 21: 1st trimester combo screen (US+ beta-hCG w/PAPP-A)

Trisomy 13: also with triple screen

Trisomy 13: identify fetal abnormalities on ultrasound.

Front 8

Describe Turner Syndrome:

Back 8

45XO, short stature, primary amenorrhea, sexual infantilism, webbed neck, shield chest, short fourth metacarpal, renal anomalies, lymphedema of extremities at birth, CV anomalies (coarctation of aorta).

Front 9

Common ultrasound finding for Turner Syndrome:

Back 9

Cystic Hygroma

Front 10

Diagnosis of Turner or Klinefelter?

Back 10

Only by Karyotype after Amniocentesis or CVS, otherwise you can check for cystic hygroma on US for Turner.