1. bookVolume 23 (2015): Edition 2 (June 2015)
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eISSN
2284-5623
Première parution
08 Aug 2013
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Anglais
access type Accès libre

Prenatal diagnosis of triploidy in second trimester of pregnancy: a series of 4 cases over an eleven-year period / Diagnosticul prenatal al triploidiei în trimestrul al II-lea de sarcină: o serie de patru cazuri depistate în unsprezece ani

Publié en ligne: 23 Jun 2015
Volume & Edition: Volume 23 (2015) - Edition 2 (June 2015)
Pages: 213 - 220
Reçu: 12 Nov 2014
Accepté: 13 Apr 2015
Détails du magazine
License
Format
Magazine
eISSN
2284-5623
Première parution
08 Aug 2013
Périodicité
4 fois par an
Langues
Anglais
Abstract

Triploidy is a numerical chromosomal anomaly characterized by the presence of three sets of haploid chromosomes. The incidence is hard to evaluate, because usually it causes 1st trimester miscarriage. At 20 weeks of amenorrhea the incidence of triploidy is estimated at 1/250,000 cases. We present 4 cases of triploidy diagnosed during the decade 2003-2013 in the Prenatal Diagnosis Department of Maternity “Cuza-Vodă” Iasi, Romania, all registered in one year. The analysis of pathological cases identified in the last 11 years by prenatal diagnosis has shown that triploidies represented only 5.7% of numeric chromosomal anomalies, but in 2013 the four cases of triploidy represented 36% of numeric chromosomal anomalies. The karyotypes were recommended after discovering different congenital anomalies by ultrasound scan. In all cases, an intrauterine growth retardation (IUGR) was present but with no placental changes. Also, we discovered anomalies of limbs, congenital anomalies of heart and some dysmorphic features. This series demonstrates that triploidy may be discovered in the 2nd trimester of pregnancy and has a heterogeneous aspect at ultrasound scan, which can generate diagnostic difficulties. Therefore, the detection by ultrasound scan, at 18-22 weeks of pregnancy, of complex foetal morphological abnormalities should be an important reason for amniocentesis to search chromosomal anomalies

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1. Snijders RJM, Sebire NJ, Nicolaides KH. Maternal age and gestational age-specific risk for chromosomal defects. Fetal Diagn Ther. 1995;10(6):356-67. DOI: 10.1159/000264259 DOI: 10.1159/00026425810.1159/0002642598579773Search in Google Scholar

2. McKinlay Gardner RJ, Sutherland GR. Chromosome abnormalities detected at prenatal diagnosis, McKinlay Gardner RJ, Sutherland GR (eds). in Chromosome abnormalities and genetic counselling, 3th ed. Oxford University Press Inc. New York 2004;392-434.Search in Google Scholar

3. Wick JB, Johnson KJ, O`Brian J, Wick MJ. Second trimester diagnosis of triploidy: a series of four cases. Am J Perinatol Rep. 2013;3(1):37-40.Search in Google Scholar

4. McFadden DE, Robinson WP. Phenotype of triploid embryos. J Med Genet. 2006;43(7):609-12. DOI: 10.1136/jmg.2005.03774710.1136/jmg.2005.037747256455616236813Search in Google Scholar

5. Egozcue S, Blanco J, Vidal F, Egozcue J. Diploid sperm and the origin of triploidy. Hum Reprod. 2002;17(1):5-7. DOI: 10.1093/humrep/17.1.510.1093/humrep/17.1.511756352Search in Google Scholar

6. Wang BT, Chong TP, Boyar FZ, Kopita KA, Ross LP, El-Naggar MM. et al. Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. Mol Cytogenet. 2014;7:33. DOI: 10.1186/1755-8166-7-3310.1186/1755-8166-7-33404949524914406Search in Google Scholar

7. Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population- based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20(5):521-6. DOI: 10.1038/ ejhg.2011.24610.1038/ejhg.2011.246333022422234154Search in Google Scholar

8. Iliopoulos D, Vassiliou G, Sekerli E, Sidiropoulou V, Tsiga A, Dimopoulou A, et al. Long survival in a 69,XXX triploid infant in Greece. Genet Mol Res. 2005;4(4):755-9.Search in Google Scholar

9. Guanciali-Franchi P, Iezzi I, Matarrelli B, Morizio E, Calabrese G, Palka G. A case of triploidy detected by crosstrimester test. J Prenat Med. 2012;6(3):55-6.Search in Google Scholar

10. Bagherizadeh E, Oveisi M, Hadipour Z, Saremi A, Shafaghati Y, Behjati F. Triploidy in a fetus following amniocentesis referred for maternal serum screening test at second trimester. Indian J Hum Genet. 2010;16(2):94-6. DOI: 10.4103/0971-6866.6937110.4103/0971-6866.69371295595821031058Search in Google Scholar

11. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray ver Med. 2012;367(23):2175-84. DOI: 10.1056/NEJMoa120338210.1056/NEJMoa1203382354941823215555Search in Google Scholar

12. Dalmia R, Young P, Sunanda GV. A case of triploidy. Fertil Steril. 2005;83(2):462-3. DOI: 10.1016/j.fertnstert. 2004.07.968Search in Google Scholar

13. Brancati F, Mingarelli R, Dallapiccola B. Reccurent triploidy of maternal origin. Eur J Human Genet. 2003;11(12):972-4. DOI: 10.1038/sj.ejhg.520107610.1038/sj.ejhg.520107614508508Search in Google Scholar

14. Daniel A, Wu Z, Benetts B, Slater H, Osborn R, Jackson J. Karyotype, phenotype and parental origin in 19 cases of triploidy. Prenat Diagn. 2001;21(12):1034-48. DOI: 10.1002/pd.16410.1002/pd.16411746161Search in Google Scholar

15. Falcon O, Peralta CFA, Cavoretto P, Auer M, Nicolaides KH. Fetal trunk and head volume in chromosomally abnormal fetuses at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obstet Gynecol. 2005;26(5):517-20. DOI: 10.1002/uog.199010.1002/uog.199016142826Search in Google Scholar

16. Baumer A, Balmer D, Binkert F, Schinzel A. Parental origin and mechanisms of formation of triploidy: a study of 25 cases. Eur J Hum Genet. 2000;8(12):911-7. DOI: 10.1038/sj.ejhg.520057210.1038/sj.ejhg.520057211175278Search in Google Scholar

17. Witters I, Van Robays J, Willekes C, Coumans A, Peeters H, Gyselaers W, et al. Trisomy 13, 18, 21, triploidy and Turner syndrome: the 5T’s. Look at the hands. Facts Views Vis Obgyn. 2011;3(1):15-21.Search in Google Scholar

18. Lapaire O, Lu XY, Johnson KL, Jarrah Z, Stroh H, Cowan JM. Array-CGH analysis of cell-free fetal DNA in 10 mL of amniotic fluid supernatant. Prenat Diagn. 2007;27(7):616-21. DOI: 10.1002/pd.175210.1002/pd.175217510923Search in Google Scholar

19. Chiu RW, Lo YM. Noninvasive prenatal diagnosis empowered by high-throughput sequencing. Prenat Diagn. 2012;32(4):401-6. DOI: 10.1002/pd.3822 10.1002/pd.382222467171Search in Google Scholar

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