Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis.

RESEARCH QUESTION: Preimplantation genetic testing for aneuploidies has increasingly been employed for embryo selection, resulting in a recent surge in mosaic embryos. According to the cytogenetic results, which types of mosaic embryo survive early pregnancy, progress to the second trimester and finally result in a live birth? DESIGN: This study evaluated 30,587 pregnant women undergoing amniocentesis from January 2004 to March 2020 at the cytogenic centre of Kaohsiung Chang Gung Memorial Hospital. Samples from amniocentesis were cultured using the in-situ method. The types and distribution of level III chromosomal mosaicism (two or more cells with the same abnormality in two or more colonies and both culture dishes, clinically referred to as 'true mosaicism') were retrospectively reviewed. RESULTS: Among the 30,587 women, 78 cases (0.26%) of level III chromosomal mosaicism were identified. The types of chromosomal mosaicism were classified as sex chromosome mosaicism (SCM), autosomal chromosome mosaicism (ACM) and marker chromosome mosaicism (MCM), with SCM, ACM and MCM accounting for 58.97%, 32.05% and 8.97% of cases, respectively. The most common mosaic cell lines were monosomy X and trisomy 21. The most common mosaic cell line progressing to live birth was monosomy X. CONCLUSIONS: Mosaic monosomy X and trisomy 21 are the most common cell lines of true mosaicism determined by amniocentesis. Monosomy X mosaicism is the most common cell line in live births. For women considering the transfer of these types of mosaic embryo in a circumstance where euploid embryos are unavailable, clinicians should provide careful prenatal counselling, detailed ultrasonography and amniocentesis.

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

PURPOSE: The objective of this study is to compare the chromosomal distribution of early miscarriages with or without embryonic poles. MATERIALS AND METHODS: It was a retrospective study of 223 women who underwent dilation and curettage (D&C) between 1995 and 2013 for early miscarriages. The presence or absence of a fetal pole was evaluated by abdominal or transvaginal ultrasound. Cytogenetic tests of products of conception following culture were determined in both groups. RESULTS: Of the 223 early miscarriages, 143 had embryos and 80 did not. The abnormality rate differed significantly (61.5 % vs. 46.3 %, p < 0.05), with trisomy 18, 21 and 45X found only in miscarriages with embryos. There were no significant differences between groups in rates of triploidy, tetraploidy, mosaicism, structure and double abnormality. The female abortus rate was higher in miscarriages with or without embryonic poles, as well as in groups with normal and abnormal karyotypes. CONCLUSIONS: Chromosome distribution differs in miscarriages with or without embryonic poles. The ultrasound findings might offer different direction to determine the causes of early miscarriages. The higher female abortus rate may be associated with early selection.

High interleukin-16 concentrations in the early second trimester amniotic fluid: an independent predictive marker for preterm birth.

OBJECTIVE: Infection is believed to be one of frequent and important causes of preterm labor. We attempted to evaluate whether the level of inflammatory markers, e.g. interleukin-16 (IL-16), interleukin-18 (IL-18), and ferritin, in amniotic fluid at early second trimester can predict preterm birth. METHODS: Amniotic fluid (AF) samples were collected from 350 pregnant women who had trans-abdominal amniocentesis for genetic indications at 16 to 20 weeks of gestation. AF levels of IL-16, IL-18 and ferritin levels were measured by immunoassay and were correlated with pregnancy outcomes. RESULTS: Among the 350 pregnant women, 58 (16.6%) had preterm birth (<37 weeks gestation). AF levels of IL-16, IL-18, and ferritin were significantly higher in pregnant women with subsequent preterm birth. Multivariate analyses showed that a quartile higher of AF IL-16 level was significantly associated with preterm birth (OR: 3.09, 95% CI 1.52-6.27, p = 0.002). A receiver operating characteristic analysis revealed that an IL-16 cutoff value of 105 pg/ml was a reliable predictor of preterm birth (sensitivity, 90.2%; specificity, 52.7%; negative predictive value, 84.3%). CONCLUSION: It is feasible to predict preterm birth by measuring the AF levels of IL-16 especially for the pregnant women requiring genetic amniocentesis during early second trimester.