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Unexpected Prenatal Cytogenetic Results in Positive Maternal Serum Screening Cases

Author Affiliations

  • 1 Jagdishprasad Jhabarmal Tibrewal University, Jhunjhunu, Rajasthan, INDIA

Int. Res. J. Medical Sci., Volume 2, Issue (11), Pages 1-4, November,28 (2014)


Maternal Serum Screening (MSS) in 1st and 2nd trimester of pregnancy is a known and voluntary accepted screening method for chromosome 18, 21 and Neural Tube Defect (NTD) in the general population. Every screening method is supported by a diagnostic test and hence, in screen positive (high risk) cases, confirmation of the chromosomal anomaly requires invasive procedures like Chorionic Villus Sampling (CVS), Amniocentesis or Cord Blood Sampling. Genetic Counseling before the sample collection plays an important role for the couple to make an informed choice for which the consent is obtained. Trisomy of Chromosome 13, 18, 21 are the common findings in high risk cases with positive MSS. Unusual chromosome anomalies also come as a surprise. The present study is of 1329 high risk maternal serum screen positive cases with average gestational age of 17-18 wks for whom Amniocentesis was done to rule out chromosomal aneuploidies only. Of the total 1392 cases, 82 abnormalities were observed. In 47 (57.32%) cases, expected chromosomal aneuploidy (Trisomy of chromosome 13, 18 and 21) were seen. Unexpected results were observed in 35 (42.68%) cases. The unexpected results included Monosomy, Trisomy of sex chromosomes, Translocation, Inversion of autosomal and sex chromosome, Deletion, Duplication, Isocentric, Marker chromosomes and derivatives. The high number of unexpected finding is sufficient enough to conclude the importance of Genetic Counseling and fetal Karyotyping in prenatal diagnosis.


  1. Broke D.J.H., Rodeck C.H. and Ferguson-Smith, Prenatal diagnostic and screening. New York: Churchill Livingstone, 3-99,741(1992)
  2. Crandall B.F., Golbus M.S., Goldberg J.D. and Matsumoto M., First trimester maternal serum unconjugated oestriol and alpha fetoprotein in fetal Down’s syndrome, Los Angeles, Prenat. Diagn., 11, 377-380 (1991)
  3. Abramsky L. and Chapple J., Prenatal diagnosis : The Human Side, London UK, Chapman and Hall, Book Darr A., 134-149 (1994)
  4. Caron L, Tihy F and Dallaire L., Frequency of chromosomal abnormalities at amniocentesis : Over 20 years of cytogenetic analysis, Am J Med Genet,80,149-154 (1999)
  5. Lee KH, Ryu HM, Lim KT, Son CW, Beak HS, Yang JY, Kim MY, Kim ES, Han HW and Choi SK., Analysis in 1997 cases of amniocentesis for fetal karyotyping, Korean J Perinatol, 6, 35-40 (1995)
  6. Karaoguz MY, Bal F and Yakut T et al., Cytogenetic results of amniocentesis materials: incidence of abnormal karyotypes in the Turkish collaborative study, Genet Counsel., 17, 219-230 (2006)
  7. Park SY, Kim JW, Kim YM, Lee MH, Han JY, Kim YM, Yang JH and Ryu HM., Frequencies of fetal chromosomal abnormalities at prenatal diagnosis: 10 years experience a single institution, J Korean Med Sci.,16, 290-293(2001)
  8. Crandall B.F., Golbus M.S., Goldberg J.D. and Matsumoto M., First trimester maternal serum unconjugated oestriol and alpha fetoprotein in fetal Down’s syndrome, Los Angeles, Prenat. Diagn., 377-380 (1991)
  9. Felix M., ISCN : An International System for Human Cytogenetic Nomenclature, st ed. New York, Karger, 46, 50-73 (1995)
  10. Kar A. and Singh J.R., Chromosomal abnormalities: Genetic disease burden in India, Int J Hum Genet.,10, 1-3 (2010)
  11. Mathew T, Navasaria D and Verma RS., Prenatal diagnosis of 1,400 consecutive amniocentesis, Gynecol Obsect Invest., 34, 122-123 (1992)
  12. Wieacker P. and Steinhard J., The prenatal diagnosis of genetic disease, Dtch Arztebl Int, 857-862 (2010)
  13. Verp MS. Prenatal diagnosis of genetic disorders, In : Gleicher N., ed. Principles and practice of medicaltherapy in pregnancy, 2nd ed. Norwalk, CT : Appleton and Lange,159-70 (1992)
  14. Barisic I, Zergollern L, Muzinic D and Hitrec V., Risk estimates for balanced reciprocal translocation carries- Prenatal diagnsosi experience, Clin Genet., 49(3)., 145-51 (1996)
  15. Warburton D., De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis : Clinical significance and distribution of breakpoints, Am J Hum Genet.Nov., 49(5), 995-1013 (1991)
  16. Pettenati PN, Rao Mc, Phelqan MC, paracentric inversion in human: a review of 446 paracentric inversion with presentation of 120 new cases, Am J med Genet., 55., 171(1995)