A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis.

This study investigated a pregnancy where the fetus was diagnosed with monosomy 18p by invasive amniocentesis and karyotyping. Additional noninvasive prenatal diagnosis, which detects fetal chromosome abnormalities in the circulating cell-free plasma DNA originating from the placenta revealed a related 18p monosomy/18q trisomy, suggesting confined placental mosaicism. Based on recent observations of chromosomal instability in the early preimplantation embryo, this study speculates on the possible embryonic origin(s) of these related but discordant chromosome 18 aneuploidies in the placental and fetal tissues.

[Prenatal diagnosis and clinical counseling for fetal chromosomal reciprocal translocations].

Objective: To analyze the clinical effect of fetal chromosomal reciprocal translocation in order to optimize procedures for prenatal diagnosis and clinical counseling.

Methods: Conventional G-banding karyotype analysis was performed on 7901 amniotic fluid samples. For fetuses found to have carried a reciprocal translocation, karyotypes of their parents were checked.

[Rapid and high-throughput multiplex ligation-dependent probe amplification for diagnosis of chromosome aneuploidy].

Objective: To assess the diagnostic value of multiplex ligation-dependent probe amplification (MLPA) for detection of common chromosome aneuploidy in amniotic fluid (AF) cells in order to obtain an accurate, rapid, cost-effective and high-throughput method in routine prenatal clinical practice.

Methods: The MLPA test was performed on 500 AF samples by using kit P095 and the results were obtained by using analysis software RH-MLPA-v511. The results were compared with that from fluorescence in situ hybridization (FISH) and traditional karyotyping (TK).