1
|
Kavalier F: Investigation of recurrent
miscarriages. BMJ. 331:121–122. 2005.PubMed/NCBI View Article : Google Scholar
|
2
|
Branch DW, Gibson M and Silver RM:
Clinical practice. Recurrent miscarriage. N Engl J Med.
363:1740–1747. 2010.PubMed/NCBI View Article : Google Scholar
|
3
|
Larsen EC, Christiansen OB, Kolte AM and
Macklon N: New insights into mechanisms behind miscarriage. BMC
Med. 11(154)2013.PubMed/NCBI View Article : Google Scholar
|
4
|
Nagaishi M, Yamamoto T, Iinuma K,
Shimomura K, Berend SA and Knops J: Chromosome abnormalities
identified in 347 spontaneous abortions collected in Japan. J
Obstet Gynaecol Res. 30:237–241. 2004.PubMed/NCBI View Article : Google Scholar
|
5
|
Rull K, Nagirnaja L and Laan M: Genetics
of recurrent miscarriage: Challenges, current knowledge, future
directions. Front Genet. 3(34)2012.PubMed/NCBI View Article : Google Scholar
|
6
|
Chen S, Liu D, Zhang J, Li S, Zhang L, Fan
J, Luo Y, Qian Y, Huang H, Liu C, et al: A copy number variation
genotyping method for aneuploidy detection in spontaneous abortion
specimens. Prenat Diagn. 37:176–183. 2017.PubMed/NCBI View
Article : Google Scholar
|
7
|
Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F,
Liu W, Wang L, Zhang S, Liu Y, et al: Genomic variations of the
mevalonate pathway in porokeratosis. eLife.
4(e06322)2015.PubMed/NCBI View Article : Google Scholar
|
8
|
Yang C, Shen L, Xu Z, Wu X, Mo X, Zhang J,
Wang D, Wang Y, Peng Y, Cao L, et al: A novel competitive
fluorescent multiplex STR polymorphism assay for rapid, reliable
and single-tube screening of 22q11.2 copy-number aberrations.
Electrophoresis. 30:465–471. 2009.PubMed/NCBI View Article : Google Scholar
|
9
|
Aleksandrova N, Shubina E, Ekimov A,
Kodyleva T, Mukosey I, Makarova N, Kulakova E, Levkov L, Trofimov D
and Sukhikh G: Comparison of the results of preimplantation genetic
screening obtained by a-CGH and NGS methods from the same embryos.
Gynecol Endocrinol. 32 (Suppl 2):S1–S4. 2016.PubMed/NCBI View Article : Google Scholar
|
10
|
Gonzalez Garcia JR and Meza-Espinoza JP:
Use of the International system for human cytogenetic nomenclature
(ISCN). Blood. 108:3952–3953. 2006.PubMed/NCBI View Article : Google Scholar
|
11
|
Conlin LK, Thiel BD, Bonnemann CG, Medne
L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H and
Spinner NB: Mechanisms of mosaicism, chimerism and uniparental
disomy identified by single nucleotide polymorphism array analysis.
Hum Mol Genet. 19:1263–1275. 2010.PubMed/NCBI View Article : Google Scholar
|
12
|
Haoud K, Mellali S, Gouas L, Tchirkov A,
Vago P and Moulessehoul S: Prevalence of aneuploidies in products
of spontaneous abortion: Interest of FISH and MLPA. Morphologie.
98:40–46. 2014.PubMed/NCBI View Article : Google Scholar
|
13
|
Kasak L, Rull K, Vaas P, Teesalu P and
Laan M: Extensive load of somatic CNVs in the human placenta. Sci
Rep. 5(8342)2015.PubMed/NCBI View Article : Google Scholar
|
14
|
Boormans EM, Birnie E, Oepkes D, Galjaard
RJ, Schuring-Blom GH and van Lith JM: MLP and Karyotyping
Evaluation (M.A.K.E.) Study Group: Comparison of multiplex
ligation-dependent probe amplification and karyotyping in prenatal
diagnosis. Obstet Gynecol. 115:297–303. 2010.PubMed/NCBI View Article : Google Scholar
|
15
|
Wapner RJ, Martin CL, Levy B, Ballif BC,
Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, et
al: Chromosomal microarray versus karyotyping for prenatal
diagnosis. N Engl J Med. 367:2175–2184. 2012.PubMed/NCBI View Article : Google Scholar
|
16
|
Wang BT, Chong TP, Boyar FZ, Kopita KA,
Ross LP, El-Naggar MM, Sahoo T, Wang JC, Hemmat M, Haddadin MH, et
al: Abnormalities in spontaneous abortions detected by G-banding
and chromosomal microarray analysis (CMA) at a national reference
laboratory. Mol Cytogenet. 7(33)2014.PubMed/NCBI View Article : Google Scholar
|
17
|
Yang L, Tang Y, Lu M, Yang Y, Xiao J, Wang
Q, Yang C, Tao H and Xiang J: Novel rapid molecular diagnosis of
fetal chromosomal abnormalities associated with recurrent pregnancy
loss. Acta Obstet Gynecol Scand. 95:1433–1440. 2016.PubMed/NCBI View Article : Google Scholar
|
18
|
Rubio C, Simon C, Vidal F, Rodrigo L,
Pehlivan T, Remohí J and Pellicer A: Chromosomal abnormalities and
embryo development in recurrent miscarriage couples. Hum Reprod.
18:182–188. 2003.PubMed/NCBI View Article : Google Scholar
|
19
|
Goldstein M, Svirsky R, Reches A and Yaron
Y: Does the number of previous miscarriages influence the incidence
of chromosomal aberrations in spontaneous pregnancy loss? J Matern
Fetal Neonatal Med. 30:2956–2960. 2017.PubMed/NCBI View Article : Google Scholar
|
20
|
Nikitina TV, Sazhenova EA, Tolmacheva EN,
et al: Comparative cytogenetic analysis of spontaneous abortions in
recurrent and sporadic pregnancy losses. Biomedicine Hub.
1:2016.PubMed/NCBI View Article : Google Scholar
|
21
|
Ogasawara M, Aoki K, Okada S and Suzumori
K: Embryonic karyotype of abortuses in relation to the number of
previous miscarriages. Fertil Steril. 73:300–304. 2000.PubMed/NCBI View Article : Google Scholar
|
22
|
Sullivan AE, Silver RM, LaCoursiere DY,
Porter TF and Branch DW: Recurrent fetal aneuploidy and recurrent
miscarriage. Obstet Gynecol. 104:784–788. 2004.PubMed/NCBI View Article : Google Scholar
|
23
|
Stern JJ, Dorfmann AD, Gutierrez-Najar AJ,
Cerrillo M and Coulam CB: Frequency of abnormal karyotypes among
abortuses from women with and without a history of recurrent
spontaneous abortion. Fertil Steril. 65:250–253. 1996.PubMed/NCBI View Article : Google Scholar
|
24
|
Marquard K, Westphal LM, Milki AA and
Lathi RB: Etiology of recurrent pregnancy loss in women over the
age of 35 years. Fertil Steril. 94:1473–1477. 2010.PubMed/NCBI View Article : Google Scholar
|
25
|
Grande M, Borrell A, Garcia-Posada R,
Borobio V, Muñoz M, Creus M, Soler A, Sanchez A and Balasch J: The
effect of maternal age on chromosomal anomaly rate and spectrum in
recurrent miscarriage. Hum Reprod. 27:3109–3117. 2012.PubMed/NCBI View Article : Google Scholar
|
26
|
Choi TY, Lee HM, Park WK, Jeong SY and
Moon HS: Spontaneous abortion and recurrent miscarriage: A
comparison of cytogenetic diagnosis in 250 cases. Obstet Gynecol
Sci. 57:518–525. 2014.PubMed/NCBI View Article : Google Scholar
|
27
|
Di Gregorio E, Savin E, Biamino E,
Belligni EF, Naretto VG, D'Alessandro G, Gai G, Fiocchi F, Calcia
A, Mancini C, et al: Large cryptic genomic rearrangements with
apparently normal karyotypes detected by array-CGH. Mol Cytogenet.
7(82)2014.PubMed/NCBI View Article : Google Scholar
|
28
|
Liu S, Song L, Cram DS, Xiong L, Wang K,
Wu R, Liu J, Deng K, Jia B, Zhong M and Yang F: Traditional
karyotyping vs copy number variation sequencing for detection of
chromosomal abnormalities associated with spontaneous miscarriage.
Ultrasound Obstet Gynecol. 46:472–477. 2015.PubMed/NCBI View Article : Google Scholar
|
29
|
Al-Asmar N, Peinado V, Vera M, Remohí J,
Pellicer A, Simón C, Hassold T and Rubio C: Chromosomal
abnormalities in embryos from couples with a previous aneuploid
miscarriage. Fertil Steril. 98:145–150. 2012.PubMed/NCBI View Article : Google Scholar
|
30
|
Benkhalifa M, Kasakyan S, Clement P, Baldi
M, Tachdjian G, Demirol A, Gurgan T, Fiorentino F, Mohammed M and
Qumsiyeh MB: Array comparative genomic hybridization profiling of
first-trimester spontaneous abortions that fail to grow in vitro.
Prenat Diagn. 25:894–900. 2005.PubMed/NCBI View
Article : Google Scholar
|
31
|
Dong Z, Zhang J, Hu P, Chen H, Xu J, Tian
Q, Meng L, Ye Y, Wang J, Zhang M, et al: Low-pass whole-genome
sequencing in clinical cytogenetics: A validated approach. Genet
Med. 18:940–948. 2016.PubMed/NCBI View Article : Google Scholar
|
32
|
Liang D, Wang Y, Ji X, Hu H, Zhang J, Meng
L, Lin Y, Ma D, Jiang T, Jiang H, et al: Clinical application of
whole-genome low-coverage next-generation sequencing to detect and
characterize balanced chromosomal translocations. Clin Genet.
91:605–610. 2017.PubMed/NCBI View Article : Google Scholar
|
33
|
Dhillon RK, Hillman SC, Morris RK,
McMullan D, Williams D, Coomarasamy A and Kilby MD: Additional
information from chromosomal microarray analysis (CMA) over
conventional karyotyping when diagnosing chromosomal abnormalities
in miscarriage: A systematic review and meta-analysis. BJOG.
121:11–21. 2014.PubMed/NCBI View Article : Google Scholar
|
34
|
Levy B, Sigurjonsson S, Pettersen B,
Maisenbacher MK, Hall MP, Demko Z, Lathi RB, Tao R, Aggarwal V and
Rabinowitz M: Genomic imbalance in products of conception:
Single-nucleotide polymorphism chromosomal microarray analysis.
Obstet Gynecol. 124:202–209. 2014.PubMed/NCBI View Article : Google Scholar
|
35
|
Bruno DL, Burgess T, Ren H, Nouri S,
Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo
KH and Slater HR: High-throughput analysis of chromosome
abnormality in spontaneous miscarriage using an MLPA subtelomere
assay with an ancillary FISH test for polyploidy. Am J Med Genet A.
140:2786–2793. 2006.PubMed/NCBI View Article : Google Scholar
|
36
|
Kasak L, Rull K, Sober S and Laan M: Copy
number variation profile in the placental and parental genomes of
recurrent pregnancy loss families. Sci Rep. 7(45327)2017.PubMed/NCBI View Article : Google Scholar
|
37
|
Zimowski JG, Massalska D, Pawelec M, Bijok
J, Michalowska A and Roszkowski T: First-trimester spontaneous
pregnancy loss-molecular analysis using multiplex
ligation-dependent probe amplification. Clin Genet. 89:620–624.
2016.PubMed/NCBI View Article : Google Scholar
|
38
|
Wang Y, Cheng Q, Meng L, Luo C, Hu H,
Zhang J, Cheng J, Xu T, Jiang T, Liang D, et al: Clinical
application of SNP array analysis in first-trimester pregnancy
loss: A prospective study. Clin Genet. 91:849–858. 2017.PubMed/NCBI View Article : Google Scholar
|
39
|
Bug S, Solfrank B, Schmitz F, Pricelius J,
Stecher M, Craig A, Botcherby M and Nevinny-Stickel-Hinzpeter C:
Diagnostic utility of novel combined arrays for genome-wide
simultaneous detection of aneuploidy and uniparental isodisomy in
losses of pregnancy. Mol Cytogenet. 7(43)2014.PubMed/NCBI View Article : Google Scholar
|