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Fetal and Pediatric Pathology Volume 41, 2022 - Issue 6
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ARTICLE

Complementary Approaches in Fetal Genetic Diagnosis: Decision-Making Process and Alternative Choices for Clinicians in a Secondary Health Care Institution

Hilmi Bolata Department of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, TurkeyCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0001-6574-8149
ORCID Icon,
Hamide Betül Gerik Çelebib Department of Medical Genetics, Balıkesir Ataturk Training and Research Hospital, Balıkesir, Turkey
&
Ertuğrul Karahanoğluc Obstetrics and Gynecology Department, Perinatology & High-Risk Pregnancy Clinic, Memorial Hospital, Ankara, Turkey
Pages 944-953 | Received 25 Oct 2021, Accepted 20 Dec 2021, Published online: 03 Jan 2022

References

  • Comas C, Echevarria M, Rodríguez I, Serra B, Cirigliano V. Prenatal invasive testing: a 13-year single institution experience. J Matern Fetal Neonatal Med. 2014;27(12):1209–12. doi:10.3109/14767058.2013.855893.
  • Meng J, Matarese C, Crivello J, Wilcox K, Wang D, DiAdamo A, Xu F, Li P. Changes in and efficacies of indications for invasive prenatal diagnosis of cytogenomic abnormalities: 13 years of experience in a single center. Med Sci Monit. 2015;21:1942–8. doi:10.12659/MSM.893870.
  • Fairbrother G, Johnson S, Musci TJ, Song K. Clinical experience of noninvasive prenatal testing with cell-free DNA for fetal trisomies 21, 18, and 13, in a general screening population. Prenat Diagn. 2013;33(6):580–3. doi:10.1002/pd.4092.
  • Öztürk FH, Öcal FD, Erol SA, Yakut K, Öztürk M, Oguz Y, Çakar ES, Celen S, Çaglar AT. Fetal genetic diagnosis by chorionic villus sampling: evaluation of the five-year experience from a single center. Fetal Pediatr Pathol. 2021;40(4):281–9. doi:10.1080/15513815.2019.1707919.
  • Siljee JE, Knegt AC, Knapen MFCM, Bekker MN, Visser GHA, Schielen PCJI. Positive predictive values for detection of trisomies 21, 18 and 13 and termination of pregnancy rates after referral for advanced maternal age, first trimester combined test or ultrasound abnormalities in a national screening programme (2007–2009). Prenat Diagn. 2014;34(3):259–64. doi:10.1002/pd.4302.
  • Medicine C on PB and the AI of U in. Practice bulletin no. 175: ultrasound in pregnancy. Obstet Gynecol. 2016;128(6):e241–e256.
  • Gynecologists AC of O and. Screening for fetal aneuploidy. Practice Bullet. 2016;979–81.
  • Driscoll DA, Gross SJ, Professional Practice Guidelines Committee. Screening for fetal aneuploidy and neural tube defects. Genet Med. 2009;11(11):818–21. doi:10.1097/GIM.0b013e3181bb267b.
  • Calabrese G, Baldi M, Fantasia D, Sessa MT, Kalantar M, Holzhauer C, Alunni-Fabbroni M, Palka G, Sitar G. Detection of chromosomal aneuploidies in fetal cells isolated from maternal blood using single-chromosome dual-probe FISH analysis. Clin Genet. 2012;82(2):131–9. doi:10.1111/j.1399-0004.2011.01775.x.
  • Monni G, Corda V, Iuculano A, Afshar Y. The decline of amniocentesis and the increase of chorionic villus sampling in modern perinatal medicine. Journal of Perinatal Medicine. 2020;48(4):307–12. doi:10.1515/jpm-2020-0035.
  • Alfirevic Z, Navaratnam K, Mujezinovic F, Cochrane Pregnancy and Childbirth Group. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochr Database System Rev. 2017;2017(9). doi:10.1002/14651858.CD003252.pub2.
  • Hay SB, Sahoo T, Travis MK, Hovanes K, Dzidic N, Doherty C, Strecker MN. ACOG and SMFM guidelines for prenatal diagnosis: is karyotyping really sufficient? Prenat Diagn. 2018;38(3):184–9. doi:10.1002/pd.5212.
  • Del Gaudio D, Shinawi M, Astbury C, Tayeh MK, Deak KL, Raca G, ACMG Laboratory Quality Assurance Committee. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020;22(7):1133–41. doi:10.1038/s41436-020-0782-9.
  • Ozyilmaz B, Kirbiyik O, Ozdemir TR, Kaya OO, Kutbay YB, Erdogan KM, Guvenc MS, Koc A. The efficiency of SNP-based microarrays in the detection of copy-neutral events at 15q11.2 and 11p15.5 Loci. J Pediatr Genet. 2020;9(1):9–18. doi:10.1055/s-0039-1698420.

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