Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Ron Bardin; Eran Hadar; Lylach Haizler-Cohen; Rinat Gabbay-Benziv; Israel Meizner; Sarit Kahana; Josepha Yeshaya; Shiri Yacobson; Lital Cohen-Vig; Ifaat Agmon-Fishman; Lina Basel-Vanagaite; Idit Maya

doi:10.1515/jpm-2017-0071

Article

Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Ron Bardin , Eran Hadar , Lylach Haizler-Cohen , Rinat Gabbay-Benziv , Israel Meizner , Sarit Kahana , Josepha Yeshaya , Shiri Yacobson , Lital Cohen-Vig , Ifaat Agmon-Fishman , Lina Basel-Vanagaite and Idit Maya

Published/Copyright: September 15, 2017

Published by

Become an author with De Gruyter Brill

Submit Manuscript Author Information Explore this Subject

From the journal Journal of Perinatal Medicine Volume 46 Issue 9

Abstract

Objective:

To determine the rate of chromosomal cytogenetic abnormalities in fetuses with late onset abnormal sonographic findings.

Design:

Retrospective cohort of women who underwent amniocentesis at or beyond 23 weeks of gestation, for fetal karyotype and chromosomal microarray analysis, indicated due to late onset abnormal sonographic findings.

Results:

All 103 fetuses had a normal karyotype. Ninety-five women also had chromosomal microarray analysis (CMA) performed. The detection rate of abnormal CMA (5/95, 5.3%) was similar to that of women who underwent amniocentesis due to abnormal early onset ultrasound findings detected at routine prenatal screening tests during the first or early second trimester (7.3%, P=0.46) and significantly higher than that for women who underwent amniocentesis and CMA upon request, without a medical indication for CMA (0.99%, P<0.0001).

Conclusions:

Late onset sonographic findings are an indication for amniocentesis, and if performed, CMA should be applied to evaluate fetuses with late onset abnormal sonographic findings.

Keywords: Amniocentesis; chromosomal microarray analyses; karyotype; late abnormalities; third trimester; ultrasound

Corresponding author: Eran Hadar, MD, Helen Schneider Hospital for Women, Rabin Medical Center, Petach-Tikva 49100, Israel, Tel.: 972-3-9377400, Fax: 972-3-9377402

aRon Bardin and Eran Hadar: These authors are equal contributors and should be regarded as joint first authors.

Author’s statement
Conflict of interest: Authors state no conflict of interest.
Research funding: None received.
Material and methods: Informed consent: Informed consent has been obtained from all individuals included in this study.
Ethical approval: The research related to human subject use has complied with all the relevant national regulations, and institutional policies, and is in accordance with the tenets of the Helsinki Declaration, and has been approved by the authors’ institutional review board or equivalent committee.

References

[1] Drummond CL, Molina-Gomes D, Senat MV. Fetal karyotyping after 28 weeks of gestation for late ultrasound findings in a low risk population. Prenat Diagn. 2003;23:1068–72.10.1002/pd.715Search in Google Scholar

[2] Shalev J, Meizner I, Rabinerson D, Mashiach R, Peleg D, Orvieto R, et al. Elective cytogenetic amniocentesis in the third trimester for pregnancies with high risk factors. Prenat Diagn. 1999;19:749–52.10.1002/(SICI)1097-0223(199908)19:8<749::AID-PD619>3.0.CO;2-#Search in Google Scholar

[3] Picone O, Senat MV, Rosenblatt J, Audibert F, Tachdjian G, Frydman R. Fear of pregnancy loss and fetal karyotyping: a place for third-trimester amniocentesis? Fetal Diagn Ther. 2008;23:30–5.10.1159/000109223Search in Google Scholar

[4] Hillman SC, Mcmullan DJ, Hall G, Togneri FS, James N, Maher EJ, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41:610–20.10.1002/uog.12464Search in Google Scholar

[5] Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012; 367:2175–84.10.1056/NEJMoa1203382Search in Google Scholar

[6] Robson SC, Chitty LS, Morris S, Verhoef T, Ambler G, Wellesley DG, et al. Evaluation of array comparative genomic hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation. Southampton (UK): NIHR Journals Library; 2017.10.3310/eme04010Search in Google Scholar

[7] Eydoux P, Choiset A, Le Porrier N. Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment. Prenat Diagn. 1989;9:255–69.10.1002/pd.1970090405Search in Google Scholar

[8] Gagnon S, Fraser W, Fouquette B, Bastide A, Bureau M, Fontaine JY, et al. Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: an analysis of 117 cases with review of the literature. Prenat Diagn. 1992;12:9–18.10.1002/pd.1970120103Search in Google Scholar

[9] Hadlock FP, Deter RL, Ronald BR, Seung KP. Estimation fetal age – computer assisted analysis of multiple fetal growth parameters. Radiology. 1984;152:497–501.10.1148/radiology.152.2.6739822Search in Google Scholar

[10] Dollberg S, Haklai Z, Mimouni FB, Gorfein I, Gordon ES. Birth weight standards in the live-born population in Israel. Isr Med Assoc J. 2005;7:311–4.Search in Google Scholar

[11] Phelan JP, Smith CV, Broussard P, Small M. Amniotic fluid volume assessment with the four quadrant technique at 36–42 weeks of gestation. J Reprod. 1987;32:540–2.Search in Google Scholar

[12] Chervenak FA, Rosenberg J, Brightman RC, Chitkara U, Jeanty P. A prospective study of the accuracy of ultrasound in predicting fetal microcephaly. Obstet Gynecol. 1987;69:908–1.Search in Google Scholar

[13] Malinger G, Toi A, Ben-Sira L, Lerman-Sagie T. Malformations of cortical development, Chapter 7. In: Timor-Tritsch I, Monteagudo A, Pilu G, Malinger G, editors. Ultrasonography of the prenatal brain, 3rd ed. New York: McGraw-Hill Professional Publishing; 2012.Search in Google Scholar

[14] Kurtz AB, Needleman L, Wapner RJ, Hilpert P, Kuhlman K, Burns PN, et al. Usefulness of a short femur in the in utero detection of skeletal dysplasias. Radiology. 1990;177:197–200.10.1148/radiology.177.1.2399317Search in Google Scholar

[15] Malinger G, Lerman-Sagie T, Watemberg N, Rotmensch S, Lev D, Glezerman M. A normal second-trimester ultrasound does not exclude intracranial structural pathology. Ultrasound Obstet Gynecol. 2002;20:51–6.10.1046/j.1469-0705.2002.00743.xSearch in Google Scholar

[16] Yinon Y, Katorza E, Nassie D, Ben-Meir E, Gindes L, Hoffmann C, et al. Late diagnosis of fetal central nervous system anomalies following a normal second trimester anatomy scan. Prenat Diagn. 2013;33:929–34.10.1002/pd.4163Search in Google Scholar

[17] Gruchy N, Decamp M, Richard N, Jeanne-Pasquier C, Benoist G, Mittre H, et al. Array CGH analysis in high-risk pregnancies – comparing DNA from cultured cells and cell-free fetal DNA. Prenat Diagn. 2012;32:383–8.10.1002/pd.2861Search in Google Scholar

[18] Bernhard Y, Bar-Hava I, Divon NY. Is polyhydramnios in an ultrasonogrphically normal fetus an indication for genetic evaluation? Am J Obstet Gynecol. 1995;173: 1523–7.10.1016/0002-9378(95)90643-6Search in Google Scholar

[19] Sagi-Dain L, Sagi S. Chromosomal aberrations in idiopathic polyhydramnios: a systematic review and meta-analysis. Eur J Med Gen. 2015;58:409–15.10.1016/j.ejmg.2015.06.010Search in Google Scholar PubMed

[20] Lichtenbelt KD, Knoers NV, Schuring-Blom GH. From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res. 2011;135:241–50.10.1159/000334065Search in Google Scholar PubMed

Received: 2017-03-03

Accepted: 2017-08-17

Published Online: 2017-09-15

Published in Print: 2018-11-27

You are currently not able to access this content.

Articles in the same Issue

https://doi.org/10.1515/jpm-2017-0071

Keywords for this article

Amniocentesis; chromosomal microarray analyses; karyotype; late abnormalities; third trimester; ultrasound