Detection of Chromosome Abnormalities by Quantitative Fluorescent PCR in Ectopic Pregnancies

Goddijn, Mariëtte; Stralen, Marja van; Schuring-Blom, Heleen; Redeker, B.; Leeuwen, Liesbeth van; Repping, Sjoerd; Leschot, N. J.; Veen, Fulco van der

doi:10.1159/000086131

Cited by 4 publications

(1 citation statement)

References 32 publications

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“…Recently many authors have utilized STR-PCR in the prenatal examination of amniocentesis samples and in maternal plasma even after ectopic pregnancy [10][11][12][13], but few have incorporated it in the study of spontaneous abortion material [14]. Most STRs have a high level of heterozygosis, and have a low rate of recombination, thus STR markers are widely used in forensic medicine and molecular laboratories [15,16].…”

Section: Discussionmentioning

confidence: 99%

Quantitative fluorescent polymerase chain reaction to detect chromosomal anomalies in spontaneous abortion

Zou

Zhang

et al. 2008

Intl J Gynecology & Obste

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Section: Discussionmentioning

confidence: 99%

Quantitative fluorescent polymerase chain reaction to detect chromosomal anomalies in spontaneous abortion

Zou

Zhang

et al. 2008

Intl J Gynecology & Obste

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Novel ploidy analysis in ectopic pregnancy

et al. 2021

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Objective: To study whether a single-nucleotide polymorphism (SNP) array could be used to test tissue from ectopic pregnancy to distinguish whether ectopic pregnancies were aneuploid. Design: Case series report. Setting: Academic medical center. Patient(s): One hundred seventy-eight women who underwent surgery for ectopic pregnancy at Northwestern Memorial Hospital between 2015 and 2018 were eligible for participation; written consent was obtained from 33 patients. Eight subjects had sufficient DNA samples and were included in the analysis. Maternal and paternal DNA samples were self-collected by buccal swab. Archived paraffin tissue containing chorionic villi from each surgically removed ectopic specimen was analyzed using SNP microarray technology to determine chromosome number and evaluate for maternal cell contamination. Intervention(s): None. Main Outcome Measure(s): Prevalence of aneuploidy in ectopic pregnancy specimens as well as success of SNP array technology in formalin-fixed and paraffin-embedded specimens. Result(s): Subjects had a mean (AESD) age of 33.4 AE 5.4 years, body mass index of 23.4 AE 5.7 kg/m 2 , 3.3 AE 1.8 prior pregnancies, and 1.5 AE 1.4 live births. Genetic testing revealed that all eight tested samples were euploid, 6 female and 2 male (two arr(1-22)x2, (X,Y)x1 and 6 arr(1-22, X)x2); maternal cell contamination was ruled out in all cases. Conclusion(s):This study showed proof of concept for the use of routinely stored formalin-fixed, paraffin-embedded tissue blocks with DNA extraction for SNP array to detect ploidy status of ectopic pregnancy. Although all tested samples were euploid, further research is needed to gain a definitive answer to this question and better understand the mechanism that leads to ectopic implantation. (Fertil Steril Rep Ò 2021;2:67-71. Ó2020 by American Society for Reproductive Medicine.

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Rapid Detection of Sex Chromosomal Aneuploidies by QF-PCR: Application in 200 Men with Severe Oligozoospermia or Azoospermia

Fodor¹,

Kámory²,

Csókay³

et al. 2007

Genetic Testing

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Klinefelter syndrome is the most common genetic cause of severe male factor infertility. Cytogenetic evaluation of metaphase chromosomes generally has a long turnaround time. We describe a reliable molecular genetic method that can be completed in 2 working days to identify the presence of any extra X chromosomes. The quantitative fluorescent (QF) 5-plex PCR includes the amplification of amelogenin, which is present on both sex chromosomes in a biallelic form, a polymorphic short tandem repeat (STR) on the pseudoautosomal region of X and Y (X22), two polymorphic X-specific STRs (DXS6803, DXS6809), and a Y-specific marker (SY134), in a single tube. The presence of an extra X chromosome is recognized either by a supernumerary peak or an increased peak area based on criteria we have developed. The application of the method on 200 patients resulted in the identification of 14 patients (7%) with Klinefelter syndrome or a variant form (2 SRY-positive 46,XX men), as well as an additional patient with 47,XYY karyotype. The QF-PCR method, along with Y chromosome microdeletion testing, can be used as a first-step genetic analysis in azoospermic or severely oligozoospermic patients for the rapid identification of sex chromosome aneuploidies.

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Detection of Chromosome Abnormalities by Quantitative Fluorescent PCR in Ectopic Pregnancies

Cited by 4 publications

References 32 publications

Quantitative fluorescent polymerase chain reaction to detect chromosomal anomalies in spontaneous abortion

Quantitative fluorescent polymerase chain reaction to detect chromosomal anomalies in spontaneous abortion

Novel ploidy analysis in ectopic pregnancy

Rapid Detection of Sex Chromosomal Aneuploidies by QF-PCR: Application in 200 Men with Severe Oligozoospermia or Azoospermia

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