Generalized abnormal embryonic development in missed abortion: Embryoscopic and cytogenetic findings

Abstract

A direct view of the embryo by means of transcervical embryoscopy prior to evacuation in 154 cases of missed abortion showed general embryonic maldevelopment in 48 cases (31%). A successful cytogenetic evaluation of these growth-disorganized embryos was performed in 37. Chromosomal abnormalities were found in 26 cases (70%), with autosomal trisomies in 24 cases (92%). Trisomies involved chromosome 3 (one case), 6 (one case), 8 (two cases), 10 (one case), 12 (two cases), 14 (one case), 16 (11 cases), 20 (one case), and 22 (four cases). Most of these chromosome abnormalities represented nonviable defects, and their presence explained the minimal embryonic development observed embryoscopically. An apparently normal karyotype was observed in 11 growth-disorganized embryos whose maldevelopment was similar to that resulting from the trisomies listed above. The factors responsible for embryonic maldevelopment with a normal karyotype are presently unknown and require further study, including investigation of imprinting defects, subtelomeric abnormalities, and cryptic mosaicism.

Chromosome distribution of early miscarriages with present or absent embryos: female predominance

“…Non-viable trisomies were also observed among our miscarriages, including trisomies of chromosomes 2, 3, 6, 7, 8, 9, 14, 15, 16, 20 and 22. This result was partially compatible with a series using transcervical embryoscopy prior to evacuation to confirm embryo morphology for cytogenetic tests [15]. We also found that the rates of polyploidy, mosaicism, structural abnormalities and double abnormalities were similar in the groups of miscarriages with and without embryos.…”

Análise citogenética em material de abortamento espontâneo

“…The most frequent chromosomopathy in this study was that of chromosome 16, which concurs with data from the literature [12][13][14] . The occurrence of trisomies is associated with older mothers, which currently is a problem in the light of the increasing maternal age in most countries 12 .…”

“…A great part of first trimester miscarriages are due to chromosomopathies 11 . Chromosome abnormalities were observed in 55.4% of miscarriage materials assessed in this study, thus confirming previous data from the literature, which has shown that 45% to 70% of all first trimester miscarriages are caused by chromosome abnormalities [12][13][14][15] .…”

“…Polyploidies and monosomy X are also common causes of miscarriage 1,14 , which was confirmed by this study. These abnormalities, however, do not have an evident association with maternal age 12 .…”

Comparison of Aneuploidy Frequency to Sperm FISH and Sperm Apoptosis Results in Embryos That Lost the Vitality

“…24,25 Spon tan dü şük le rin yak la şık %50-70'inin kro mo zom ano ma li le ri ne, %50'si nin ise bi lin me yen ge ne tik ve epi ge ne tik fak tör le re bağ lı ol du ğu dü şü nül mek te dir. 26,27 So nuç ta, em briyo ge li şi mi ve sağ lık lı döl le rin oluş tu rul ma sın da baba ya ait et ki nin araş tı rıl ma sı ol duk ça önem li dir. Bu et ki ler, ge ne tik ve epi ge ne tik ola rak in san spermin de ger çek le şen DNA de ği şik lik le ri ne bağ lı dır.…”