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A Simple and Effective Approach for Detecting Maternal Cell Contamination in Molecular Prenatal Diagnosis by T. Antoniadi; C. Yapijakis; P. Kaminopetros; C. Makatsoris; V. Velissariou; D. Vassilopoulos; M. B. Petersen is a Medicine article available to read on EtoBox.

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## Abstract The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β‐thalassaemia, sickle‐cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X‐linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low‐cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′‐HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DN

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Author

T. Antoniadi; C. Yapijakis; P. Kaminopetros; C. Makatsoris; V. Velissariou; D. Vassilopoulos; M. B. Petersen

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

2002

Language

EN

Field

Medicine (Health Sciences)