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First Trimester Options

Between 11 weeks and 13 weeks 6 days
Biochemical alone 9 weeks and 13 weeks 6 days
Components of first trimester risk estimate 1. Age 2. NT 3. Biochemical Markers
First trimester ultrasound evaluation 1. Heart beat 2. NT 3. GA by CRL
Increased NT with normal karyotype Genetic Syndromes DiGeorge 22q deletion Noonan syndrome Smith-Lemli-Opitz Jarcho-Levine syndrome Beckwith syndrome Fryns syndrome Zellweger syndrome Trigonocephaly C Spinal muscular atrophy GM1-gangliodidosis
More increased NT with normal karyotype Skeletal Dysplasias Thanotophoric dysplasia Achondrogenesis Asphyxiating thoracic dystrophy Campomelic dysplasia Nance-Sweeney Robert syndrome VACTERL association
PAPP-A Secreted by the placenta Detectable at 8 weeks Rises throughout pregnancy Decreased in Down syndrome pregnancies from 8-13 weeks (median MoM 0.40)
hCG in the first trimester Rises rapidly until about 10 weeks gestation After ~10 weeks, declines to approximately 25% of maximal levels by 20 weeks Elevated in Down syndrome pregnancy
CVS Higher rate of complications depending on the facility Placental tissue allows for more ambiguous results from rare confined placental mosaicism Availability of CVS practitioners
Integrated test Combines first and second trimesters 6-7 protein markers total Withholds info
Created by: KChatham
Popular Genetics sets




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