Sequential Integrated Screening has three separate steps: Two blood tests and one ultrasound.

First trimester blood test (10-13 wks): human chorionic gonadotropin (hCG) and pregnancy-asssociated plasma protein-A (PAPP-A). These substances are normally found in a woman’s blood only during pregancy.

Nuchal translucency ultrasound (11-14 wks): ultrasound measures thesize of the nuchal translucency of the fetus. Increased NT is greater than 3mm.

Second trimester blood test (15-20 wks): alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and inhibin-A (INH). These substances are made by the placenta and the fetus.

Conditions included in the California Prenatal Screening Program:

Condition 1st trimester NT 2nd trimester
Trisomy 21 Decreased PAPP-A
Increased hCG
Increased Decreased AFP
Decreased estriol
Increased hCG
increased inhibin A
Trisomy 18 Decreaaed PAPP-A
Decreased hCG
Increased Decreased AFP
Decreased estriol
Decreased hCG
Dcreased inhibin A
NTDs               –              – Increased AFP
Abdominal wall defects               –  May be increased Increased AFP
Smith-Lemli-Opitz               –  May be increased Decreased Estriol

Newborn screening program screens for 80 conditions (CF, endocrine disorders, metabolic disorders, hemoglobinopathies, SCID) on nearly all California babies.

Collected at least 12hrs after birth, on discharge, prior to a red blood cell transfusion, or on 6th day of life for infants with extended hospital stays.

http://www.cdph.ca.gov/programs/PNS/pages/default.aspx

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