Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens.

OBJECTIVE: To compare chromosome testing of miscarriage specimens between traditional cytogenetic analysis and molecular karyotyping using single nucleotide polymorphism microarrays (SNP) and array comparative genomic hybridization (aCGH). DESIGN: Prospective blinded cohort study. SETTING: University-based practice. PATIENT(S): Women undergoing dilation and curettage for first-trimester miscarriage between March 2014 and December 2015. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Chromosome analysis from chorionic villi separated equally and submitted for cytogenetics, SNP microarray, and aCGH testing. RESULT(S): Sixty samples were analyzed, of which 47 (78%) were chromosomally abnormal. A correct call was defined when a result was concordant with at least one other testing platform. The correct call rate was 85%, 93%, and 85% using cytogenetics, SNP array, and aCGH, respectively. We found a 33% overall discordance rate between results. Discordances were due to maternal cell contamination, balanced chromosome rearrangements, polyploidy, and placental mosaicism. Mosaicism was detected in 18% of all samples. Growth failure occurred in four samples sent to cytogenetics, of which three were chromosomally abnormal by molecular testing. CONCLUSION(S): This study demonstrates the many technical limitations of the three testing modalities. Our rates of maternal cell contamination were low, but it is important to note that this is a commonly reported limitation of cytogenetics. Given the similar overall performance of the three testing modalities, providers may choose a method based on individual availability and consideration of limitations as it applies to each clinical scenario. The unexpected high rate of placental mosaicism warrants further investigation.

In vitro fertilization outcomes after fresh and frozen blastocyst transfer in South Asian compared with Caucasian women.

OBJECTIVE: To study pregnancy outcomes between South Asian and Caucasian women undergoing frozen blastocyst transfer cycles. DESIGN: Retrospective cohort study. SETTING: Not applicable. PATIENT(S): Caucasian and South Asian patients undergoing frozen blastocyst transfer between January 2011 and December 2014. INTERVENTION(S): Not applicable. MAIN OUTCOME MEASURE(S): Live birth rate. RESULT(S): A total of 196 Caucasian and 117 South Asian women were included in our study. Indians were on average 2.2 years younger than Caucasian women (34.9 vs. 37.1 years), and were more likely to be nulliparous (59% vs. 43%). All other baseline characteristics were similar. In women undergoing their first frozen ET cycle, implantation rate (49% vs. 47%), clinical pregnancy rate (PR; 54% vs. 49%), and live birth rate (43% vs. 43%) were similar between South Asians and Caucasians, respectively. In patients who underwent a prior fresh blastocyst transfer, the live birth rate was significantly lower in South Asian versus Caucasian women (21% vs. 37%). CONCLUSION(S): Our data demonstrate that IVF outcomes are better in frozen versus fresh cycles among South Asian women. The IVF clinics may wish to consider these findings when counseling South Asian patients about the timing of ET.

Coexistence of endometriosis in women with symptomatic leiomyomas.

OBJECTIVE: To investigate the coexistence of endometriosis in women presenting with symptomatic leiomyomas. DESIGN: Retrospective study. SETTING: Tertiary university medical center. PATIENT(S): We reviewed the medical records of 131 patients who underwent laparoscopic myomectomy or hysterectomy. All patients were consented for possible concomitant diagnosis and treatment of endometriosis. INTERVENTION(S): All patients underwent laparoscopic myomectomy or hysterectomy. MAIN OUTCOME MEASURE(S): The main outcome measure of the study was the presence or absence of endometriosis. RESULT(S): Of the 131 patients, 113 were diagnosed with endometriosis and fibroids, while 18 were diagnosed with fibroids alone. Patients with fibroids were on average 4.0 years older than those with endometriosis and fibroids (41 vs. 45). Patients with both diagnoses were also more likely to present with pelvic pain and nulliparity than those with fibroids alone. CONCLUSION(S): An overwhelming majority of patients with symptomatic fibroids were also diagnosed with endometriosis. Overlooking the concomitant diagnosis of endometriosis in these women may lead to suboptimal treatment of the patients. Further studies are needed to evaluate the impact of surgical treatments on symptom resolution.

Pregnancy after trophectoderm biopsy of frozen-thawed blastocyst.

OBJECTIVE: To report a case of a successful pregnancy after trophectoderm biopsy and three-probe fluorescent in situ hybridization of a frozen blastocyst. DESIGN: Techniques and instrumentation. SETTING: A University Medical Center. PATIENT(S): Infertility patient desiring trophectoderm biopsy on frozen blastocyst for preimplantation testing, from an IVF cycle at a referring IVF program. INTERVENTION(S): Frozen blastocysts were thawed the evening before the planned transfer. Trophectoderm biopsy was performed in the morning. The fluorescent in situ hybridization results were obtained the same day; embryo transfer was performed under ultrasound guidance. MAIN OUTCOME MEASUREMENT(S): Serum betahCG and transvaginal ultrasound. RESULT(S): Positive betahCG and ongoing pregnancy. CONCLUSION(S): Trophectoderm biopsy can be used as a means for testing frozen blastocysts in patients with excess embryos cryopreserved on day 5 or 6 from previously preformed IVF cycles.