34: Aneuploidy - Part 1

In this episode we trace the history of aneuploidy screening from the early days of amniocentesis to the modern day serum screening. 

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1987 Cuckle Paper:

Estimating a woman’s risk of having a pregnancy associated with Down’s syndrome using her age and serum alpha-fetoprotein level

Other references in no particular order:

First-Trimester or Second-Trimester Screening, or Both, for Down’s Syndrome

INTEGRATED SCREENING FOR DOWN’S SYNDROME BASED ON TESTS PERFORMED DURING THE FIRST AND SECOND TRIMESTERS

First Trimester Biochemical Screening for Trisomy 21: The Role of Free Beta hCG, Alpha Fetoprotein and Pregnancy Associated Plasma Protein A

First trimester biochemical screening for trisomy 21: the role of free beta heG, alpha fetoprotein and pregnancy associated plasma protein A

SOMATIC CHROMOSOMES IN MONGOLISM

Screening for Down's Syndrome

Contingent screening for Down syndrome completed in the

First trimester: a multicenter study

UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10–14 weeks of gestation

Antenatal maternal serumscreening for Down's syndrome: results of a demonstration project

Reducing the need for amniocentesis in women 35 years of age or older with serum markers for screening

Low second trimester maternal serum unconjugated oestriol in pregnancies with Down's syndrome

Low second trimester maternal serum unconjugated oestriol in pregnancies Down's syndrome

Fetal nuchal translucency: ultrasound screening for chromosomal defectsinfirsttrimesterofpregnancy

Maternal serum screening for Down's syndrome in early pregnancy

Combining maternal age and serum alpha-fetoprotein to predict the risk of Down syndrome

Appropriate Biochemical Parameters in First-trimester Screening for Down Syndrome

Screening in early pregnancy for pre-eclampsia using Down syndrome Quadruple test markers