Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom

被引：4

作者：

Okoror, Collins Ejakhianghe Maximilian ^{[1
,2
]}

Arora, Suruchi ^{[1
]}

机构：

[1] Royal Berkshire Hosp, Dept Obstet & Gynaecol, Craven Rd, Reading RG1 5AN, England

[2] Royal Berkshire Hosp, Dept Obstet & Gynaecol, Reading RG1 5AN, England

来源：

EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY-X | 2023年 / 19卷

关键词：

Non-invasive prenatal testing (NIPT); Antenatal screening/diagnosis; Chorionic villus sampling (CVS); Amniocentesis; Invasive prenatal testing/diagnosis; Confined placental mosaicism (CPM); CELL-FREE DNA; FREE FETAL DNA; MATERNAL PLASMA; NATIONAL SOCIETY; ANEUPLOIDIES; MOSAICISM; CONFIRMATION; ABNORMALITY; PREGNANCIES; STATEMENT;

D O I：

10.1016/j.eurox.2023.100211

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The non-invasive prenatal testing (NIPT) analyses cell-free DNA (cfDNA) derived from the placental tissue in the maternal circulation. Though highly sensitive and specific, a major limitation is in cases of confined placental mosaicism (CPM). Whether to perform chorionic villus sampling (CVS) or amniocentesis to confirm a positive NIPT result is controversial. One major drawback of CVS is that cytogenetic diagnosis may not always reflect the true chromosomal make-up of the fetus. This work, therefore, proposes the use of amniocentesis in the presence of normal ultrasound findings, and the option of either CVS or amniocentesis when there are abnormal USS findings.

引用

页数：6

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