Aaron Turner

Noninvasive prenatal testing compared with invasive diagnostic testing in the setting of an abnormal state aneuploidy screen.

INTRODUCTION: To describe the abnormal results of invasive prenatal diagnostic testing performed for the indication of positive state aneuploidy screening at our institution and to further identify among those results the genetic abnormalities that would not have been detected by noninvasive (cell-free fetal DNA) prenatal testing. METHODS: This was a retrospective review of all patients that underwent invasive prenatal genetic testing (chorionic villus sampling, amniocentesis, or both) for the indication of positive state aneuploidy screening from June 2012 to June 2013 at a single, large academic medical center. Abnormal results were identified. Abnormalities that would not be detected by noninvasive cell- free DNA testing were further noted. RESULTS: There were 84 chorionic villus sampling and 38 amniocentesis procedures (total n=122) performed for the indication of positive state aneuploidy screening during this period. No karyotypic abnormality was detected in 89 (73%). Abnormalities detected included: 22 (18%) trisomy 21, three (2%) trisomy 18, two (2%) 45, X, and two (2%) 47, XYY. The remaining two were abnormalities that are not detected by current commercially available noninvasive tests: a balanced translocation and a loss of an oligonucleotide on the X chromosome. CONCLUSION: Most patients undergoing invasive testing for positive state screen results had aneuploidies that would have been detectable by current available noninvasive tests. However, some of the abnormalities would not have been identified by noninvasive prenatal testing. These limitations should be taken into account when counseling patients who test positive on state prenatal screening programs. Larger studies are needed to validate these findings.

Demographic and Obstetric Outcomes of Pregnancies conceived by Assisted Reproductive Technology (ART) compared to Non-ART Pregnancies.

OBJECTIVE Use of assisted reproductive technology has increased steadily, yet multiple socioeconomic and demographic disparities remain between the general population and those with infertility. Additionally, both mothers and infants experience higher rates of adverse outcomes compared to their non-ART counterparts. METHODS Using International Classification of Diseases, Ninth Revision (ICD-9) coding, we performed a retrospective review of all ART-conceived deliveries in California in 2009. A total of 551 ART pregnancies were compared to Non-ART pregnancies (n=406,885). RESULTS The majority of ART deliveries belonged to women of advanced maternal age (AMA) and Caucasian or Asian race. Nearly half of all ART deliveries were multiple gestations. Compared to non-ART deliveries, ART pregnancies were associated with placenta previa, placental abruption, mild preeclampsia, and fetal growth restriction. CONCLUSION While not powered to detect all outcomes, our study highlights significant racial and ethnic disparities between ART and Non-ART pregnancies.

Predictors for Choosing Array-Comparative Genomic Hybridization for Prenatal Diagnosis

INTRODUCTION: The objective of this study was to investigate the indications for which women choose to have prenatal diagnosis with array-comparative genomic hybridization. METHODS: This is a retrospective review of the invasive prenatal diagnostic testing procedures (chorionic villus sampling and amniocentesis) with array-comparative genomic hybridization testing that were performed from December 2012 to June 2013 at a single, large academic medical center. The indications for testing were evaluated to determine the predictors for electing to have array-comparative genomic hybridization testing performed among this cohort of women. RESULTS: During this time period, there were 479 patients who underwent invasive testing. Of these, 162 (34%) women chose to have array-comparative genomic hybridization testing. In this group, 132 (81%) were of advanced maternal age. Advanced maternal age was the only indication for array-comparative genomic hybridization in 100 (62%) of the women. Other indications included: 14 (8%) advanced maternal age with multiple gestation, 22 (14%) ultrasound abnormalities (15 increased nuchal translucency, three first-trimester cystic hygroma, four second-trimester fetal anomalies); seven (4%) abnormal prenatal state screening; six (3.5%) prior aneuploidy; six (3.5%) maternal or paternal carriers of genetic abnormalities; and eight (5%) for maternal concern. Of these, two women were surrogates. Of this cohort, 34 (21%) had an abnormal array-comparative genomic hybridization result. Of these, only three were karyotypic abnormalities. CONCLUSIONS: The most common predictor of choosing array-comparative genomic hybridization was advanced maternal age followed by ultrasound abnormalities. Almost one fourth of abnormalities would not have been identified on routine karyotype. Pretest counseling and appropriate selection of pregnancies for testing continues to be important in this setting. Larger studies are needed to validate these findings.