Prenatal Screening and Diagnostics

Prenatal screening and diagnostics encompasses the methods used to detect chromosomal abnormalities and genetic conditions in a fetus before birth, ranging from biochemical assays to the analysis of cell-free fetal DNA circulating in maternal blood. The shift toward noninvasive prenatal testing, which sequences fetal DNA shed into the maternal plasma, has made it possible to screen for conditions like trisomy 21 with high sensitivity while avoiding the miscarriage risk associated with invasive procedures such as amniocentesis. Alongside these advances, preimplantation genetic diagnosis allows embryos created through in vitro fertilization to be tested for chromosomal errors before transfer, extending the scope of genetic oversight to the earliest stages of development. Active research continues to push toward broader genomic coverage, better detection of rarer chromosomal variants, and clearer clinical frameworks for managing ambiguous or uncertain findings.

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Keywords

Prenatal DiagnosisAneuploidy ScreeningMaternal Plasma DNA SequencingNoninvasive Prenatal TestingChromosomal AbnormalitiesPreimplantation Genetic Diagnosis