Chapters authored
Prenatal Biochemical and Ultrasound Markers in Chromosomal Anomalies
The unbalanced chromosomal anomalies generate an abnormal pattern of development and usually determine miscarriage. The most frequent prenatal chromosomal anomalies are X monosomy, trisomies of chromosomes 21, 18, 13, 16, 8, triploidy and tetraploidy. Identification of chromosomal anomalies can be done by prenatal screening and diagnosis. Prenatal screening is biochemical, sonographic or molecular (detection of fetal DNA in maternal blood). Biochemical screening can be done in the first or second trimester. First-trimester screening is based on the detection in maternal serum of beta-hCG (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A). Biochemical screening in the second trimester requires the detection of alpha-fetoprotein (aFP) hGC, unconjugated estriol (μE) and inhibin A. The sonographic examination can be used in the first or second trimesters. In the first trimester, an ultrasound can identify soft markers like nuchal translucency, nasal bone and ductus venous flow. In the second trimester the sonographic examination can identify congenital anomalies or different soft markers. Prenatal chromosomal diagnosis requires an invasive procedure to obtain embryonic or fetal material. Such procedures are represented by chorionic villus sampling amniocentesis or cordocentesis. The fetal cells are used for cell cultures (in cytogenetic methods) or for molecular analyses (FISH, QF-PCR, MLPA, array-CGH).
Part of the book: Congenital Anomalies