Literature DB >> 15834243

Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study.

Joshua Menasha1, Brynn Levy, Kurt Hirschhorn, Nataline B Kardon.   

Abstract

PURPOSE: Despite advances in harvesting and culturing techniques, analysis of the impact of these improvements on the observed frequency of chromosomal abnormalities in spontaneous abortions (SAB) has not been determined. We sought to evaluate the effect of these refinements on the success rate of our cultures and on the resulting frequency of detected chromosomal abnormalities.
METHODS: Between 1990 and 2002, 2301 specimens obtained from the products of conception (POC) of SABs were submitted to our laboratory for cytogenetic analysis. Due to refinements in specimen processing and culture techniques introduced at the end of 1997, our data were analyzed for two periods: Period A from 1990 through 1997 with 907 eligible specimens and Period B from 1998 through 2002 with 1273 eligible specimens.
RESULTS: Modifications in physician communication and sample processing contributed to significant improvements in the culture success rate and in the ratio of male-to-female cases with normal karyotypes. Additionally, increased detection of trisomic, triploid, and multiple aneuploid cases in Period B resulted in a significant increase in the percentage of cases with abnormal karyotypes (42.8% in Period A vs. 65.8% in Period B). Monosomy X accounted for < 10% of all abnormalities in Period B. Eighty five multiple aneuploid karyotypes, including 57 double trisomies, comprised 7.7% of our 1099 abnormal cases. These karyotypes were detected predominantly in POCs from the older women in our study. This collection of multiple aneuploidies is the largest published to date and includes abnormalities not reported in prior studies. We also present a table empirically derived from the data in Period B that indicates the likelihood of a specific abnormal karyotype based on maternal age. The table can be utilized by health care providers, who counsel patients after a spontaneous miscarriage.
CONCLUSION: Improvements in laboratory technique have led to reduced contamination and growth failure of POCs, irrespective of maternal age. This in turn has led to a more balanced male-to-female ratio and to the detection of an increased number of abnormal cases.

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Year:  2005        PMID: 15834243     DOI: 10.1097/01.gim.0000160075.96707.04

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  61 in total

1.  First-trimester euploid miscarriages analysed by array-CGH.

Authors:  Chiara Donatella Viaggi; S Cavani; M Malacarne; F Floriddia; G Zerega; C Baldo; M Mogni; M Castagnetta; G Piombo; D A Coviello; F Camandona; D Lijoi; W Insegno; M Traversa; M Pierluigi
Journal:  J Appl Genet       Date:  2013-06-19       Impact factor: 3.240

2.  Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.

Authors:  Larysa Y Pylyp; Lyudmyla O Spynenko; Nataliya V Verhoglyad; Anna O Mishenko; Dmytro O Mykytenko; Valery D Zukin
Journal:  J Assist Reprod Genet       Date:  2017-10-30       Impact factor: 3.412

3.  Mosaic variegated aneuploidy in mouse BubR1 deficient embryos and pregnancy loss in human.

Authors:  Michael Schmid; Claus Steinlein; Qi Tian; Amy E Hanlon Newell; Manfred Gessler; Susan B Olson; Andreas Rosenwald; Burkhard Kneitz; Lev M Fedorov
Journal:  Chromosome Res       Date:  2014-07-01       Impact factor: 5.239

4.  Tri-directional anaphases as a novel chromosome segregation defect in human oocytes.

Authors:  Jenna Haverfield; Nicola L Dean; Diana Nöel; Gaudeline Rémillard-Labrosse; Veronique Paradis; Isaac-Jacques Kadoch; Greg FitzHarris
Journal:  Hum Reprod       Date:  2017-06-01       Impact factor: 6.918

5.  Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss.

Authors:  T V Nikitina; E A Sazhenova; D I Zhigalina; E N Tolmacheva; N N Sukhanova; I N Lebedev
Journal:  J Assist Reprod Genet       Date:  2020-02-03       Impact factor: 3.412

Review 6.  Sex Differences in Pediatric Rheumatology.

Authors:  Marco Cattalini; Martina Soliani; Maria Costanza Caparello; Rolando Cimaz
Journal:  Clin Rev Allergy Immunol       Date:  2019-06       Impact factor: 8.667

7.  Spontaneous abortion is associated with elevated systemic C5a and reduced mRNA of complement inhibitory proteins in placenta.

Authors:  M Banadakoppa; M S Chauhan; D Havemann; M Balakrishnan; J S Dominic; C Yallampalli
Journal:  Clin Exp Immunol       Date:  2014-09       Impact factor: 4.330

Review 8.  Noninvasive prenatal testing: the future is now.

Authors:  Errol R Norwitz; Brynn Levy
Journal:  Rev Obstet Gynecol       Date:  2013

9.  Analysis of pronuclear zygote configurations in 459 clinical pregnancies obtained with assisted reproductive technique procedures.

Authors:  Alessia Nicoli; Francesco Capodanno; Lucia Moscato; Ilaria Rondini; Maria T Villani; Antonella Tuzio; Giovanni B La Sala
Journal:  Reprod Biol Endocrinol       Date:  2010-06-25       Impact factor: 5.211

10.  Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples.

Authors:  Björn Menten; Katrien Swerts; Barbara Delle Chiaie; Sandra Janssens; Karen Buysse; Jan Philippé; Frank Speleman
Journal:  BMC Med Genet       Date:  2009-09-14       Impact factor: 2.103

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