Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics

Purpose: The metaphase karyotype is often used as a diagnostic tool in the setting of early miscarriage; however this technique has several limitations. We evaluate a new technique for karyotyping that uses single nucleotide polymorphism microarrays (SNP). This technique was compared in a blinded, prospective fashion, to the traditional metaphase karyotype. Methods: Patients undergoing dilation and curettage for first trimester miscarriage between February and August 2010 were enrolled. Samples of chorionic villi were equally divided and sent for microarray testing in parallel with routine cytogenetic testing. Results: Thirty samples were analyzed, with only four discordant results. Discordant results occurred when the entire genome was duplicated or when a balanced rearrangement was present. Cytogenetic karyotyping took an average of 29 days while microarray-based karytoyping took an average of 12 days. Conclusions: Molecular karyotyping of POC after missed abortion using SNP microarray analysis allows for the ability to detect maternal cell contamination and provides rapid results with good concordance to standard cytogenetic analysis

Gastrointestinal obstruction secondary to activated charcoal granule impaction in a dog.

ObjectiveTo describe a serious adverse event of gastrointestinal obstruction requiring surgery following routine administration of multiple doses of activated charcoal (AC) granules, which were prescribed for carprofen toxicosis.Case summaryA 2-year-old female neutered Airedale Terrier presented for ingestion of 207 mg/kg of carprofen. Decontamination was initiated with apomorphine to induce emesis. Along with additional supportive care, the dog received an initial dose of 75 mL of AC suspension containing sorbitol by mouth (15.6 g of AC, or 0.6 g/kg), followed by 50 g of AC granules every 8 hours for 4 additional doses. While hospitalized, the dog experienced clinical signs, including vomiting and black diarrhea, as well as bloodwork changes including mild to moderate elevations in kidney and liver enzymes. Given clinical improvement after 72 hours of hospitalization, the patient was discharged for monitoring and ongoing care at home. Two days later, the patient presented again for nausea, dark diarrhea with frank blood, and panting. Abdominal ultrasound showed findings suspicious for partially obstructive foreign material or atypical impacted fecal material partially occluding the distal ileum. Despite medical management overnight, recheck ultrasound the following day demonstrated persistent obstruction with ileal foreign material. Exploratory laparotomy and enterotomy revealed moderate distension and obstruction of the distal ileum with black granular foreign material consistent with charcoal granules. The patient remained in hospital for supportive care for 4 days following the procedure, and all clinical signs were resolved at the time of discharge.New or unique information providedThis report documents a serious adverse event of gastrointestinal obstruction associated with routine multidose AC administration, which has been occasionally reported in people but not in dogs. The potential for this complication should be taken into account when prescribing multiple doses of AC granules

Gastrointestinal obstruction secondary to activated charcoal granule impaction in a dog.

ObjectiveTo describe a serious adverse event of gastrointestinal obstruction requiring surgery following routine administration of multiple doses of activated charcoal (AC) granules, which were prescribed for carprofen toxicosis.Case summaryA 2-year-old female neutered Airedale Terrier presented for ingestion of 207 mg/kg of carprofen. Decontamination was initiated with apomorphine to induce emesis. Along with additional supportive care, the dog received an initial dose of 75 mL of AC suspension containing sorbitol by mouth (15.6 g of AC, or 0.6 g/kg), followed by 50 g of AC granules every 8 hours for 4 additional doses. While hospitalized, the dog experienced clinical signs, including vomiting and black diarrhea, as well as bloodwork changes including mild to moderate elevations in kidney and liver enzymes. Given clinical improvement after 72 hours of hospitalization, the patient was discharged for monitoring and ongoing care at home. Two days later, the patient presented again for nausea, dark diarrhea with frank blood, and panting. Abdominal ultrasound showed findings suspicious for partially obstructive foreign material or atypical impacted fecal material partially occluding the distal ileum. Despite medical management overnight, recheck ultrasound the following day demonstrated persistent obstruction with ileal foreign material. Exploratory laparotomy and enterotomy revealed moderate distension and obstruction of the distal ileum with black granular foreign material consistent with charcoal granules. The patient remained in hospital for supportive care for 4 days following the procedure, and all clinical signs were resolved at the time of discharge.New or unique information providedThis report documents a serious adverse event of gastrointestinal obstruction associated with routine multidose AC administration, which has been occasionally reported in people but not in dogs. The potential for this complication should be taken into account when prescribing multiple doses of AC granules

Demographic data.^a

a<p>Results expressed as mean and range, with exceptions noted.</p>b<p>In 10 of the 30 cases, no fetal pole was present, with only a gestational sac visualized on ultrasound.</p

Karyotype results of 30 cases analyzed by both SNP micro arrays and cytogenetics.

*<p>Autosomal Trisomies identified (2,3,13,14,15,16,18,20,22).</p>**<p>One unbalanced translocation detected by both methods 46,XX, der (14)t(3;14)(p21;q32)mat.</p><p>One unbalanced robertsonian translocation 46,XY,+15,der(15;15)(q10;q10) was reported as trisomy 15 by SNP micro array.</p

Graphic illustration of data for individual chromosome with different chromosome copy number a) monosomy 21, b) disomy 6, c) trisomy 16, d) partitial duplication chromosome 7.

<p>Graphic illustration of data for individual chromosome with different chromosome copy number a) monosomy 21, b) disomy 6, c) trisomy 16, d) partitial duplication chromosome 7.</p