期刊
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY
卷 28, 期 3, 页码 453-466出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.bpobgyn.2014.01.002
关键词
fetal ultrasound; genetic syndromes; non-invasive prenatal diagnosis; cell-free fetal DNA; prenatal diagnosis
资金
- Department of Health [RP-PG-0707-10107] Funding Source: Medline
- Great Ormond Street Hospital Childrens Charity [V1253] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0513-10141, RP-PG-0707-10107] Funding Source: researchfish
Sonographic diagnosis of fetal abnormalities is based on the recognition of sonographic patterns associated with structural abnormalities. Although diagnosis in some situations, such as neural tube defects, gastroschisis, and omphalocoele, can be straightforward, in many situations, the constellation of fetal abnormalities suggest an underlying chromosomal or genetic cause. In these situations, invasive testing is needed to provide the information required to make a definitive diagnosis, and thus accurately counsel parents. Since the identification of cell-free fetal DNA in maternal plasma, the potential for non-invasive prenatal diagnosis is increasingly becoming possible. In this chapter, the current role and future potential of non-invasive prenatal diagnosis, combined with new molecular techniques as an aid to sonographic diagnosis, will be discussed. (C) 2014 Elsevier Ltd. All rights reserved.
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