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 |
