Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges

被引：52

作者：

Carbone, Luigi ^{[1
]}

Cariati, Federica ^{[2
,3
]}

Sarno, Laura ^{[1
]}

Conforti, Alessandro ^{[1
]}

Bagnulo, Francesca ^{[3
]}

Strina, Ida ^{[1
,3
]}

Pastore, Lucio ^{[2
,4
]}

Maruotti, Giuseppe Maria ^{[1
]}

Alviggi, Carlo ^{[1
,3
,5
]}

机构：

[1] Univ Napoli Federico II, Dipartimento Neurosci Sci Riprod & Odontostomatol, I-80131 Naples, Italy

[2] CEINGE Biotecnol Avanzate Scarl, I-80145 Naples, Italy

[3] AOU Policlin Federico II, Maternal Child Dept, Fertil Unit, I-80131 Naples, Italy

[4] Univ Napoli Federico II, Dipartimento Med Mol & Biotecnol Med, I-80131 Naples, Italy

[5] CNR, Ist Endocrinol & Oncol Sperimentale, I-80131 Naples, Italy

来源：

GENES | 2021年 / 12卷 / 01期

关键词：

non-invasive prenatal testing; prenatal screening; fetal aneuploidies; cell-free fetal DNA; fetal fraction; CELL-FREE DNA; FETAL ANEUPLOIDY DETECTION; MATERNAL BLOOD; TURNER SYNDROME; TRISOMIES; 21; MONOGENIC DISORDERS; NUCHAL TRANSLUCENCY; DOWNS-SYNDROME; 1ST TRIMESTER; DIAGNOSIS;

D O I：

10.3390/genes12010015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and neurodevelopmental impairment. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. Recently, the use of cell-free fetal DNA (cff-DNA) testing has been increasingly used in different countries, representing an opportunity for non-invasive prenatal screening of pregnant women. The aim of this narrative review is to describe the state of the art and the main strengths and limitations of this test for prenatal screening of fetal aneuploidies.

引用

页码：1 / 12

页数：12

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