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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 16, No. 2, 2010, pp. 94-96
Bioline Code: hg10019
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 16, No. 2, 2010, pp. 94-96

 en Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester
Bagherizadeh, E.; Oveisi, M.; Hadipour, Z.; Saremi, A.; Shafaghati, Y. & Behjati, F.


Amniocentesis was carried out at 17 weeks gestation in a 27-year-old woman, following an abnormal maternal serum screening (MSS) test. MSS test was carried out primarily to estimate the risk of trisomy for chromosome 21. The maternal serum markers used were alpha-fetoprotein (AFP), human chorionic gonadotrophin (hCG), and unconjugated estriol (uE3), together with maternal age. The fetus was identified as screen-positive for Edward′s syndrome (trisomy 18), with low uE3, normal AFP and hCG levels. The calculated risk for trisomy 18 was more than 1:50. To identify any possible chromosomal abnormality, cytogenetic investigation was carried out on the amniotic fluid sample. The fetus′s karyotype showed triploidy with 69, XXX chromosome complement in all the metaphase spreads obtained from three different cultures, using GTG banding technique. Upon termination of the fetus, gross abnormalities indicative of triploidy were present in the fetus.

Abnormal maternal serum screening test, prenatal diagnosis, triploidy

© Copyright 2010 Indian Journal of Human Genetics.
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