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Trisomy 16 and Tracheo-Oesophageal Fistula

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Trisomy 16 and Tracheo-Oesophageal Fistula An Obstetrics and Gynecology Case Report HJO International Journal Trisomy 16 and Tracheo-oesophageal fistula Bompoula Maria- Sotiria1, Besharat Alexandros2, Pampanos Andreas3, Theodora Mariana2, Daskalakis George2, Pappa Kalliopi2 1National and Kapodistrian University of Athens, School of Medicine, Greece 21st Department of Obstetrics and Gynecology, Alexandra Hospital, National and Kapodistrian University of Athens, School of Medicine, Greece Correspondence Bompoula Maria- Sotiria E - mail: [email protected] Abstract We report a case of a 40-year-old woman, diagnosed Caesarean section was performed due to fetal distress in the first trimester screening with confined placen- at the 32nd gestational week. The newborn present- tal mosaicism. The result of chorionic villus sampling ed with respiratory distress. Finally, the newborn was was trisomy 16 and sequent amniocentesis revealed a diagnosed with a trachea-oesophageal fistula (TOF). normal male karyotype (46XY). Further examinations during pregnancy showed intrauterine growth restric- Keywords: τracheo-oesophageal fistula (TOF); intrau- tion in the absence of apparent anatomic anomalies. terine growth restriction (IUGR); trisomy 16 - racheo-oesophageal fistula (TOF) is a severe- tinct condition and the extra chromosome 16 is T congenital anomaly of unknown etiology. Sev present only in the placental tissues and not in the eral chromosomal anomalies have been asso fetus. In the uniparental disomy of chromosome ciated with TOF, but until today none of these has- 16 (UPD) the placental trisomy is complicated by been identified as a single etiological factor. - fetal chromosomes that appear to be normal but Trisomy 16 is the most common cause of first-tri both copies originate from one of the two parents. mester miscarriage,1 occurring in 1-2% of all preg This is mostly associated with mosaic trisomy 16 nancies . Different types of numerical trisomy 16 and has been shown to2,3 be of importance because exist. Full trisomy 16 is not compatible with life.- Caseof genomic report imprinting . Mosaic trisomy 16 (MT16) is extremely rare and - is characterized by the presence of an extra chro - mosome 16 in some, but not all, of the cells of the- A 40-year-old Caucasian female, gravida 2, with un affected individual. The clinical presentation of complicated medical history, received regular an- MT16 varies quite a lot, but the most common char tenatal care in our Department. No history of drug- acteristics include intrauterine growth restriction- abuse was documented. Due to her advanced repro- (IUGR) and congenital heart defects. When MT16 ductive age and increased risk for chromosomal ab is confined to the Placenta (CPM), constitute a dis normalities she was recommended to undergo cho VOLUME 15, ISSUE 3, JULY - SEPTEMBER 2016 83 Trisomy 16 and Tracheo-oesophageal fistula www.hjog.org - +4th - rionic villus sampling (CVS) in the 11 gestational- the cytotrophoblasts and amniotic fluid that ap week. The +5karyotype was TM16 in chorionic villi (47 pears to have a significant risk for fetal malforma XY, +16). She was advised to proceed to amniocen tions. Fetal malformations associated with trisomy- tesis at 17 gestational week, in order to document- 16 mosaicism in live-births include: Heart defects, if the trisomy 16 was confined to the placenta only. hypospadias, two vessel umbilical cord, clinodacty- The amniocentesis result was a normal male karyo ly, pulmonary hypoplasia and oligohydramnios. It β - type - (46XY). The diagnosis was confined placental has been also associated with maternal hyperten mosaicismst (CPM). The obstetric ultrasound at the sion, increased levels of HCG and aFP, fetal or neo 21 gestational week showed a divergence of about natal death and3,4,7,8,9 increased risk for pre-term delivery eight days of the intrauterine growth in relation to- (<37 weeks) . the gestational age and an echogenic bowel. percen The- In CPM (confined placental mosaicism) there is next ultrasound examination showed an intrauterst a discrepancy5 between the fetal karyotype and the- ine growth restriction (IUGR) under the 1 - placenta. The mosaicism is strictly limited within the- tile. No major malformations were detected. Doppler placenta . It seems that maternal uniparental diso assessment of the uterine, umbilical and middle cer my (UPD) 16 has a strong 6influence on fetal develop ebral arteries was normal. Also, the mother and the ment and fetal anomalies . CPM has been associated fetus were tested for uniparental disomy in order also with preeclampsia and pregnant women under10- to investigate if the resulting TM16 had a maternal ges- this diagnosis should be checked for hypertension . origin. The result was negative. Caesarean sectionnd - Although there are reports of two cases of triso- was performed due to fetal distress at the 32 my in the E group of chromosomes (chromosomes tational week, which was documented by a patho 16-18) complicated with tracheoesophageal11,12,13 fistu logical cardiotocograph and a lack of end diastolic- la, these were cases of trisomy 18 . No cases of flow on the Doppler ultrasound. A male 1100gr with- trisomy 16 and T-E fistula have been documented- normal phenotype was born. The newborn present until now. ed respiratory distress after birth and was hospital- Our case report implies an association since triso ized at the neonatal intensive care unit (NICU). The my 16 is a chromosomal abnormality in the group- cause of the respiratory distress was tracheoesoph E of chromosomes. In order to identify a case with- Discussionageal fistula. CPM, chorionic villus sampling (CVS) with simulta - neous amniocentesis is necessary. The amniocente- sis contributes in comparison of the normal ploidy- Trisomy 16 is the most common cause of miscar of the fetus with the placental mosaic cells. Serial ul- riage during the first trimester of pregnancy. - trasounds are necessary to determine the proper fe It can be diagnosed by performing chromosomal- tal growth and early detection of congenital malfor testing after miscarriage. The trisomy can be diag mations, defects and pathological conditions which nosed1 during pregnancy through CVS or amniocen affect fetal phenotype. A close pregnancy monitoring tesis . When trisomy 16 is found in chorionic villus Conclusionwill bear us to intervene in case of any fetal distress. sampling (CVS) or amniocentesis in a pregnancy with a normal fetal development, it is almost always - mosaic. -3 The appearance of the tracheoesophageal fistula is- However, serial ultrasounds are recommended possibly associated with trisomy 16 but more re- to determine if the fetus has congenital abnormal- ports are necessary. Since CPM 16 is very rare, as ities. Trisomy in the chorionic villous stroma, and sessing the fetal development with serial ultra amniotic mesenchyme is associated with intrauter sounds, close monitoring of the pregnancy and ine growth restriction in contrast with trisomy in reporting of these cases are necessary, so as to have 84 VOLUME 15, ISSUE 3, JULY - SEPTEMBER 2016 www.hjog.org Trisomy 16 and Tracheo-oesophageal fistula Genet. Couns. 2004;15:183. 7. Johnson P., Duncan K., Blunt S., Bell G., Ali Z., Cox P. more definitive data that could help us with the et al. Apparent confined placental mosaicism of Tri- Conflictmanagement of interest of these cases. somy 16 and multiple fetal anomalies: Case report. Prenat. Diagn. 2000;20:417. 8. Chen C.P., Shih J.C., Chern S.R., Lee C.C., Wang W. ReferencesWe declare that we have no conflict of interest. Prenatal diagnosis of mosaic trisomy 16 associated 1. Chan-Wei Jia, Li Wang, Yong-Lian Lan, Rui Song, Li- with congenital diaphragmatic hernia and elevat- Yin Zhou, Lan Yu, et.al Aneuploidy in Early Miscar- ed maternal serum alpha-fetoprotein and human riage and its Related Factors. Chin Med J (Engl). chorionic gonadotropin. Prenat. Diagn. 2004;24:63. 2015;128: 2772-2776 9. Neiswanger K,. Hohler P.M., Hively-Thomas I.B., 2. DOC16 Foundation: http://www.trisomy16.org/ McPherson E.W., Allen Hogge W., Surti U. Variable about/what_are_doc16.html outcomes in mosaic trisomy 16: Five case reports 3. Gilbertson N J, Taylor J W, Kovar I Z. Mosaic tri- and literature analysis. Prenat.Diagn. 2006; 26:454. somy 16 in a live newborn infant. Arch Dis Child. 10. Robinson W.P., Penaherrera M.S., Jiang R., Avila I., 1990;65:388-389. Sloan J., McFadden D.E. et al. Assessing the role of 4. Yong PJ, Barrett IJ, Kalousek DK, Robinson W.P. placental trisomy in preeclampsia and intrauterine Clinical aspects, prenatal diagnosis and patho- growth restriction. Prenat.Diagn. 2010;30:1. genesis of trisomy 16 mosaicism. J. Med. Genet. 11. Sommer A, Grosfeld J L. Trisomy E and T-E fistula. J 2003;40:175-82. Med Genet. 1970;7:70-74. 5. Kontomanolis EN1, Lambropoulou M, Georgiadis A, 12. Lubs H. A., Ruddle F. H. Chromosomal abnormalities Gramatikopoulou I, Deftereou TH, Galazios G. The in 400 consecutive newborns. Mammalian Chromo- challenging trisomy 16: A case report. Clin. Exp. Ob- some Newsletter 1969;10, pp 93-156. stet. Gynecol. 2012;39(3):412-3. 13. Taylor, A. I. Autosomal trisomy syndrome: A detailed 6. Eggermann T., Curtis M., Zerres K., Hughes H.E. Ma- study of 27 cases of Edward’s syndrome and 27 cas- ternal uniparental disomy 16 and genetic coun- es of Patau’s syndrome (review article). Journal of seling: New case and servey of published cases. Medical Genetics 1968;5:227-252. VOLUME 15, ISSUE 3, JULY - SEPTEMBER 2016 85.
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