PP167. PRENATAL DIAGNOSIS OF A FETUS WITH LIP-JAW-PALATAL CLEFT CRENGUTA ALBU, D.F.Albu, E.Severin
Human Genetics Department, "Carol Davila" University of Medicine and Pharmacy, Bucharest - ROMANIA e-mail: stevealbu@yahoo.com
*Corresponding Author:
page: 122

Abstract

Early sonographic evaluation of the fetal face has acquired a special importance because noticeable features in the phenotype facilitate the diagnosis of syndrome-like or chromosomally induced clinical conditions. Microcephaly, facial clefts, microphtalmia, cleft lip and palate (variable in its extent) is suggestive for a chromosomal anomaly.

Objective: To specify the most appropriate safety method of trisomy 13 prenatal screening. Patient selection: A 27-year-old female, pregnant for the second time, was referred at 16 weeks' gestation for a routine prenatal ultrasound. The woman and her husband had normal general health and were not genetically related. There was no history of abnormal children in their families.

Methods: routine ultrasonography at 16 weeks of pregnancy; selective ultrasonography for detection of fetal abnormalities; triple test; amniocentesis. Results: Ultrasound examination revealed a single fetus with an abnormal fetal facial development: mi crophtalmia, cleft lip and palate, bilateral club foot, hyperechogenic focus and polyhydramnios. Cleft lip and palate as a sonographic marker suggested the possibility of a chromosomal anomaly, such as trisomy 13 or trisomy 18. Triple test was not sensitive to the presence of trisomy 13. Chromosome analysis was recommended and fetal karyotype demonstrated 47, XY, +13. After an extensive counseling the parents decided to terminate the pregnancy with trisomy 13.

Conclusions: in this case report, lip-jaw-palatal cleft was a strong and useful screening tool for the detection of trisomy; chromosomal analysis is recommended in all cases with similar types of facial clefts prenatally diagnosed because many of the features of trisomy 13 and trisomy 18 overlap.




Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006