Incidence and Spectrum of Chromosome Abnormalities in Miscarriage Samples: A Retrospective Study of 330 Cases

Abstract

Embryonic chromosome abnormalities are the most important causes of early spontaneous abortions. The aim of this study was to evaluate the spectrum and the frequencies of chromosomal anomalies in spontaneous miscarriages and to correlate these with maternal and gestational age. A retrospective study was conducted based on data obtained from a single medical genetics laboratory that collects cases from Western Romania. Long-term cultures of chorionic villus samples were established for karyotype analysis by GTG banding. Additionally, we performed QF-PCR to detect aneuploidies for chromosomes 13, 18, 21, X, and Y. In total, chorionic villi samples of 330 miscarriages (from August 2007 to November 2018) were analyzed. Results were obtained for 90.6% (299/330) of the cases. The remaining 9.4% (31/330) were excluded from evaluation due to inconclusive results. An abnormal karyotype was found in 156 cases (47.27%), while in 143 cases (43.33%) a normal karyotype was present. Of the abnormal cases, 88 (56.4%) had trisomies, 25 (16.0%) presented polyploidies, 25 (16.0%) had monosomy X, and 19 (11.5%) chromosome rearrangements. QF-PCR analysis identified aneuploidy in 2 out of 8 samples (25%). Cytogenetic investigations of spontaneous abortions provide valid data as to the cause of the abortion. This information may also be helpful for genetic counseling and considering future pregnancies.

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

“…Genetic counseling must consider that gonadal mosaicism cannot be excluded ( 37 , 38 ). For this reason, prenatal diagnosis was performed in subsequent pregnancies ( 39 – 41 ).…”

CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney

“…CHD7 mutations cause inactivation of remodeling activity of varying degrees. Remodeling of nucleosomes is a key function of CHD7 during developmental processes, which may explain why CHD7 mutations cause developmental defects but do not prevent the development of pregnancy (39)(40)(41)(42).…”

Benefits of α‑lipoic acid in high‑risk pregnancies (Review)

“…Traditionally, it has been accepted that this imbalance leads to cell damage by the accumulation of reactive oxygen species in tissues, oxidation of lipids and intracellular proteins, resulting in cell death by apoptosis or necrosis (59)(60)(61). Overproduction of free radicals triggers a systemic inflammatory response in the fetal body, given the already compromised oxygen availability.…”