Skip to main content
SpringerLink
Log in

Spectrum of Chromosomal Abnormalities Detected by Conventional Cytogenetic Analysis Following Invasive Prenatal Testing of Fetuses with Abnormal Ultrasound Scans

  • Original Article
  • Published:
The Journal of Obstetrics and Gynecology of India Aims and scope Submit manuscript

Abstract

Objectives

The frequent association between malformations and chromosomal abnormalities is now well-established. This study looks at the incidence and type of chromosomal abnormalities detected by conventional cytogenetic analysis in women undergoing invasive tests following detection of fetal anomalies on antenatal scans as well as incidence of other genetic abnormalities detected by DNA analysis of fetuses with congenital anomalies that had a normal karyotype.

Materials and Methods

A retrospective, observational study of pregnant women undergoing invasive testing following identification of fetal anomalies by ultrasonography was carried out in a tertiary care facility, Vellore, India, between 2011 and 2018.

Results

169 women underwent an invasive diagnostic procedure following detection of fetal anomalies. The most common indication for doing fetal karyotype was the presence of major fetal structural anomalies (142/169, 84%) with over a third (48/142, 34%) having multisystem involvement. Fetal hydrops was the next most common indication, detected in 18/169 (10%) fetuses. Aneuploidy was seen 19 of 25 fetuses (76%) with an abnormal karyotype with autosomal aneuploidy accounting for 13 (68%) and sex chromosome aneuploidy for seven (37%) of the fetuses. One fetus had double aneuploidy. In fetuses with normal karyotype, no additional information was obtained from further genetic testing.

Conclusions

The overall detection rate of chromosomal abnormalities in our study using conventional cytogenetic analysis was 14.8%, the majority (72%) being associated with structural malformations, 20% with non-immune hydrops and 4% with soft markers. Abnormal karyotypes were seen in 12.7% of fetuses with structural malformations.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Nicolaides KH, Snijders RJM, Campbell S, Gosden CM, Berry C. Ultrasonographically detectable markers of fetal chromosomal abnormalities. The Lancet. 1992; 340(8821):704–7.

    Article  CAS  Google Scholar 

  2. Simpson JL, Acuna JM. Genetic factors in stillbirths. The Lancet. 2011; 378(9794):878.

    Article  Google Scholar 

  3. Andrew C, Koshy T, Gopal S, Paul SFD. A retrospective exploratory study of fetal genetic invasive procedures at a University Hospital. J Obstet Gynaecol J Inst Obstet Gynaecol. 2018 ;38(7):906–10.

    Article  Google Scholar 

  4. Vintzileos AM, Campbell WA, Nochimson DJ, Weinbaum PJ. Antenatal evaluation and management of ultrasonically detected fetal anomalies. Obstet Gynecol. 1987 ;69(4):640–60.

    CAS  PubMed  Google Scholar 

  5. Medical Termination of pregnancy (Amendment) Act 2021(Act No.8 of 2021) 226130.pdf [Internet]. [cited 2022]. Available from: https://egazette.nic.in/WriteReadData/2021/226130.pdf

  6. Rizzo N, Pittalis MC, Pilu G, Orsini LF, Perolo A, Bovicelli L. Prenatal karyotyping in malformed fetuses. Prenat Diagn. 1990;10(1):17–23.

    Article  CAS  Google Scholar 

  7. Platt LD, DeVore GR, Lopez E, Herbert W, Falk R, Alfi O. Role of amniocentesis in ultrasound-detected fetal malformations. Obstet Gynecol. 1986 ;68(2):153–5.

    CAS  PubMed  Google Scholar 

  8. Raniga S, Desai PD, Parikh H. Ultrasonographic soft markers of aneuploidy in second trimester: are we lost? Medscape Gen Med. 2006;8(1):9.

    Google Scholar 

  9. McGowan-Jordan J, Simons A, Schmid M. ISCN (2016): An International System for Human Cytogenomic Nomenclature. Basel ; New York: S. Karger; 2016.

  10. Barch MJ, Knutsen T, Spurbeck JL. The AGT Cytogenetics Laboratory Manual. Lippincott-Raven Publishers; 1997. 708 p.

  11. Lichtenbelt KD, Alizadeh BZ, Scheffer PG, Stoutenbeek P, Schielen PCJI, Page-Christiaens LCML, et al. Trends in the utilization of invasive prenatal diagnosis in The Netherlands during 2000–2009. Prenat Diagn. 2011 ;31(8):765–72.

    Article  Google Scholar 

  12. Chitayat D, Langlois S, Douglas Wilson R, Douglas Wilson R, Audibert F, Blight C, et al. Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. J Obstet Gynaecol Can. 2011 ;33(7):736–50.

    Article  Google Scholar 

  13. Steele MW, Breg WR. Chromosome analysis of human amniotic-fluid cells. Lancet Lond Engl. 1966 ;1(7434):383–5.

    Article  CAS  Google Scholar 

  14. Simoni G, Brambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, et al. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet. 1983;63(4):349–57.

    Article  CAS  Google Scholar 

  15. Ewigman BG, Crane JP, Frigoletto FD, LeFevre ML, Bain RP, McNellis D. Effect of prenatal ultrasound screening on perinatal outcome. RADIUS Study Group. N Engl J Med. 1993 ;329(12):821-7.

  16. Gagnon A, Wilson RD, Allen VM, Audibert F, Blight C, Brock J-A, et al. Evaluation of Prenatally Diagnosed Structural Congenital Anomalies. J Obstet Gynaecol Can. 2009 ;31(9):875–81.

    Article  Google Scholar 

  17. Staebler M, Donner C, Van Regemorter N, Duprez L, De Maertelaer V, Devreker F, et al. Should determination of the karyotype be systematic for all malformations detected by obstetrical ultrasound? Prenat Diagn. 2005 ;25(7):567–73.

    Article  CAS  Google Scholar 

  18. Halliday J, Lumley J, Bankier A. Karyotype abnormalities in fetuses diagnosed as abnormal on ultrasound before 20 weeks’ gestational age. Prenat Diagn. 1994;14(8):689–97.

    Article  CAS  Google Scholar 

  19. van Zalen-Sprock MM, van Vugt JM, Karsdorp VH, Maas R, van Geijn HP. Ultrasound diagnosis of fetal abnormalities and cytogenetic evaluation. Prenat Diagn. 1991;11(8):655–60.

    Article  Google Scholar 

  20. Rizzo N, Pittalis MC, Pilu G, Perolo A, Banzi C, Visentin A, et al. Distribution of abnormal karyotypes among malformed fetuses detected by ultrasound throughout gestation. Prenat Diagn. 1996 ;16(2):159–63.

    Article  CAS  Google Scholar 

  21. Jauniaux E, Van Maldergem L, De Munter C, Moscoso G, Gillerot Y. Nonimmune hydrops fetalis associated with genetic abnormalities. Obstet Gynecol. 1990;75(3 Pt 2):568–72.

    CAS  PubMed  Google Scholar 

  22. Murphy CC, Boyle C, Schendel D, Decouflé P, Yeargin-Allsopp M. Epidemiology of mental retardation in children. Ment Retard Dev Disabil Res Rev. 1998;4(1):6–13.

    Article  Google Scholar 

  23. Carr DH, Gedeon M. Population cytogenetics of human abortuses. In: Hook EB, Porter IH, editors. Population cytogenetics. New York: Academic; 1977. p. 1–9.

    Google Scholar 

  24. Neuber M, Rehder H, Zuther C, Lettau R, Schwinger E. Polyploidies in abortion material decrease with maternal age. Hum Genet. 1993;91:563–6.

    Article  CAS  Google Scholar 

  25. Murer-Orlando M, Zahed L, Docherty Z. Prenatal diagnosis of chromosome abnormalities. A comparison of the results of various techniques, with special emphasis on mosaicism. Genetica. 1990;83(1):61-5. PMID: 2090562

  26. Hay SB, Sahoo T, Travis MK, Hovanes K, Dzidic N, Doherty C, et al. ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient? Prenat Diagn. 2018 ;38(3):184–9.

    Article  CAS  Google Scholar 

  27. 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.

    Article  CAS  Google Scholar 

  28. Prenatal BACs‐on‐BeadsTM: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis - Vialard - 2011 - Prenatal Diagnosis - Wiley Online Library [Internet]. [cited 2022 ]. Available from: https://obgyn.onlinelibrary.wiley.com/doi/abs/https://doi.org/10.1002/pd.2727

Download references

Funding

No funding was received for this project.

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology Unit IV, Christian Medical College, Vellore, Tamil Nadu, India

    Anne George Cherian & Manisha Madhai Beck

  2. Department of Cytogenetics, Christian Medical College, Vellore, Tamil Nadu, India

    Vandana Kamath & Vivi Srivastava

  3. Department of Biostatistics, Christian Medical College, Vellore, Tamil Nadu, India

    Tunny Sebastian

  4. Department of Medical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India

    Sumita Danda

Authors
  1. Anne George Cherian
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Vandana Kamath
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Vivi Srivastava
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Sumita Danda
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Tunny Sebastian
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Manisha Madhai Beck
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Manisha Madhai Beck.

Ethics declarations

Conflict of interest

The authors have no conflicts of interest to disclose.

Ethical approval

For this type of study formal consent is not required but ethical committee permission is required. The study was approved by the Institutional Review Board [IRB number: 12226(Retro)].

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Anne George Cherian is a Professor in Department of Community Health (ObGyn), Christian Medical College, Vellore; Vandana Kamath is a Professor in Department of Cytogenetics, Christian Medical College, Vellore; Vivi Srivastava is a Professor in Department of Cytogenetics, Christian Medical College, Vellore; Tunny Sebastian, Department of Clinical Nutrition, College of Applied Medical Sciences, Imam Abdulrahman Bin Faisal University, Saudi Arabia; Sumita Danda, is a Professor in Department of Clinical Genetics, Christian Medical College, Vellore; Manisha Madhai Beck, Professor and Head, Fetal Medicine Unit, Christian Medical College, Vellore.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Cherian, A.G., Kamath, V., Srivastava, V. et al. Spectrum of Chromosomal Abnormalities Detected by Conventional Cytogenetic Analysis Following Invasive Prenatal Testing of Fetuses with Abnormal Ultrasound Scans. J Obstet Gynecol India 72 (Suppl 1), 209–216 (2022). https://doi.org/10.1007/s13224-022-01626-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13224-022-01626-x

Keywords

Search

Navigation