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Review
. 2023 Jul 1:19:100211.
doi: 10.1016/j.eurox.2023.100211. eCollection 2023 Sep.

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

Collins Ejakhianghe Maximilian Okoror  1 , Suruchi Arora  1
Affiliations
Review

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

Collins Ejakhianghe Maximilian Okoror et al. Eur J Obstet Gynecol Reprod Biol X. .

Abstract

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.

Keywords: Amniocentesis; Antenatal screening/diagnosis; Chorionic villus sampling (CVS); Confined placental mosaicism (CPM); Invasive prenatal testing/diagnosis; Non-invasive prenatal testing (NIPT).

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Conflict of interest statement

The authors hereby declared that we have no conflict of interest in undertaking this work and that no funding was received for this work.

Figures

Fig. 1
Fig. 1
Outcome of high chance NIPT result at the Royal Berkshire Hospital.
Fig. 2
Fig. 2
Proposed path for confirmation of high chance NIPT result for trisomies 21,18 and 13.
See this image and copyright information in PMC

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