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Noninvasive Prenatal Diagnosis Using a Single Fetal Nucleated Erythrocyte Isolated by Micromanipulation from Maternal Blood

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Prenatal diagnosis of hereditary diseases is usually performed by collecting fetal samples using amniocentesis, chorionic villus sampling (CVS), or cordocentesis. However, these procedures are associated with some degree of risk. For example, abortion owing to hemorrhage or infection occurs in 0.2–0.4% of patients undergoing amniocentesis. Furthermore, CVS reportedly presents the potential risk of fetal limb malformation in 0.01–0.03% of cases (1 ). Each method has the risk of misdiagnosis because of contamination by maternal cells. Thus, the development of a suitable noninvasive method is important (Table 1 ).
Table 1  Summary of Prenatal Diagnostic Methods

Diagnostic methods

Weeks of gestation

Benefits

Defects

Fetal loss rate,%

Amniocentesis

15–18

Relatively simple

Necessary to culture

0 2–0.4

     

Contamination

 
     

by maternal cells

 

Chorionic

9–12

Early and direct

Limb malformations

0 5–10

villus sampling

 

diagnosis possible

(0 01–0.03%)

 
     

Contamination

 
     

of maternal cells

 
     

Placental mosaicism

 

Cordocentesis

18–

Early and direct

Bleeding

0.5–2.0

   

diagnosis possible

Fetal bradycardia

 
     

Contamination

 
     

of maternal cells

 

Maternal

6–

Noninvasive

0

peripheral blood

       
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