文摘
Analysis of cell-free fetal DNA (cffDNA) in maternal plasma is very promising for early diagnosis ofmonogenic diseases. However, noninvasive prenatal diagnosis (NIPD) of these disorders has been limited by the lack of sensitivity of the basic biomolecular methods, by the availability of suitable technical platforms, and the need to set up patient- or disease-specific custom-made approaches. Initially, it was only possible to identify DNA sequences that are either paternal in origin or have arisen de novo in some autosomal dominant conditions. NIPD can also be applied to autosomal recessive conditions if the parents carry different mutant alleles by excluding the presence of paternal mutant alleles in maternal plasma. More recently, advances in DNA technology, such as next-generation sequencing (NGS), have allowed accurate quantification of specific sequences in maternal plasma, and subsequently enabled noninvasive testing for conditions such as thalassaemia. Today, the hospital of Montpellier provides the first NIPD test for cystic fibrosis from maternal blood by analysis of the cffDNA by searching the paternal mutation in families with CFTR compound heterozygosity.