Uterine leiomyoma confounding a noninvasive prenatal test result

Prenatal Diagnosis

Volumn 35, Issue 10, 2015, Pages 990-993

  Dharajiya, Nilesh G ^a   Namba, Akira ^b   Horiuchi, Isao ^c   Miyai, Shunsuke ^d   Farkas, Daniel H ^e,f   Almasri, Eyad ^a   Saldivar, Juan Sebastian ^a   Takagi, Kenjiro ^c   Kamei, Yoshimasa ^b  

^a SEQUENOM INC   (United States)

^b SAITAMA MEDICAL UNIVERSITY HOSPITAL   (Japan)

^c JICHI MEDICAL UNIVERSITY   (Japan)

^d GeneTech Inc   (Japan)

^e Sequenom Laboratories   (United States)

^f MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; COPY NUMBER VARIATION; FEMALE; GENETIC COUNSELING; GESTATIONAL AGE; HIGH RISK PREGNANCY; HUMAN; KARYOTYPE 46,XX; LIMIT OF DETECTION; MATERNAL AGE; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TESTING; NULLIPARA; PRENATAL SCREENING; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UTERUS MYOMA; BLOOD; LEIOMYOMA; MATERNAL SERUM SCREENING TEST; PREGNANCY; PREGNANCY COMPLICATION; UTERUS CANCER;

ADULT; FEMALE; HUMANS; LEIOMYOMA; MATERNAL SERUM SCREENING TESTS; PREGNANCY; PREGNANCY COMPLICATIONS, NEOPLASTIC; UTERINE NEOPLASMS;

EID: 84943349129     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4629     Document Type: Article

References (15)

1. American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012;120(6):1532-4.
2. Jensen TJ, Zwiefelhofer T, Tim RC, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One 2013;8(3):e57381.
3. Mazloom AR, Džakula Ž, Oeth P, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013;33(6):591-7.
4. McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing - clinical experience: 100, 000 clinical samples. PLoS One 2014;9(10):e109173.
5. Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012;58(7):1148-51.
6. Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011;13(11):913-20.
7. Osborne CM, Hardisty E, Devers P, et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 2013;33(6):609-11.
8. Chan RWY, Jiang P, Peng X, et al. Plasma DNA aberrations in systemic lupus erythematosus revealed by genomic and methylomic sequencing. Proc Natl Acad Sci 2014;11:E5302-11.
9. Meloni AM, Surti U, Sandberg AA. Deletion of chromosome 13 in leiomyomas of the uterus. Cancer Genet Cytogenet 1991;53(2):199-203.
10. Bowden W, Skorupski J, Kovanci E, Rajkovic A. Detection of novel copy number variants in uterine leiomyomas using high-resolution SNP arrays. Mol Hum Reprod 2009;15(9):563-8.
11. Harada N, Takano J, Kondoh T, et al. Duplication of 8p23.2: a benign cytogenetic variant? Am J Med Genet 2002;111(3):285-8.
12. Laughlin SK, Baird DD, Savitz DA, et al. Prevalence of uterine leiomyomas in the first trimester of pregnancy: an ultrasound screening study. Obstet Gynecol 2009;113(3):630-5.
13. Ligon AH, Morton CC. Genetics of uterine leiomyomata. Genes Chromosomes Cancer 2000;28(3):235-45.
14. Rein MS, Friedman AJ, Barbieri RL, et al. Cytogenetic abnormalities in uterine leiomyomata. Obstet Gynecol 1991;77(6):923-6.
15. Rein MS, Powell WL, Walters FC, et al. Cytogenetic abnormalities in uterine myomas are associated with myoma size. Mol Hum Reprod 1998;4(1):83-6.