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A New Comprehensive Paradigm for Prenatal Diagnosis

Seeing the Forest Through the Trees

Borrell, A.

Obstetrical & Gynecological Survey: April 2019 - Volume 74 - Issue 4 - p 196–197
doi: 10.1097/01.ogx.0000554377.62192.0d
OBSTETRICS: ETHICS, MEDICOLEGAL ISSUES, AND PUBLIC POLICY
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(Abstracted from Ultrasound Obstet Gynecol 2018;52:563–568)

The prevalence of birth disorders is estimated to be 3% for major fetal malformations, which are thought to be mainly multifactorial in origin, and 3% for genetic anomalies, distributed almost equally between chromosomal anomalies (1%), submicroscopic anomalies (1%), and single-gene disorders (1%) (excluding cancer-predisposing and metabolic syndromes). From their introduction in the 1970s, prenatal diagnosis programs focused primarily on the detection of Down syndrome, the most common cause of intellectual disability, and neural tube defects.

Barcelona Center for Maternofetal and Neonatal Medicine, Hospital Clínic Barcelona, Barcelona, Catalonia, Spain

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