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2012-01-14-09 Case of the week #315 © Grochal, Cuillier www.TheFetus.net


Case of the week #315

March 29, 2012 - April 12, 2012

Frantisek Grochal, MD1; Krsiakova Jana, MD2
E. Kaufmann, MD3; D. Mardamootoo4; Fabrice Cuillier, MD5; F. Cartault, MD6.

1 Femicare, s.r.o., Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic. UVN SNP Ruzomberok, Gynecological and obstetrical department. Catholic University in Ruzomberok, Faculty of Health Care, Ruzomberok, Slovak Republic;
2 Genetic department, M-Genetik, s.r.o., Martin, Slovak republic;
3 Praticien Hospitalier, Department of Gynecology, GHSR, 97400 Saint-Pierre, Ile de la Réunion, France;
4 Midwife, Department of Gynecology, GHSR, 97400 Saint-Denis, Ile de la Réunion, France;
5 Praticien Hospitalier, Department of Gynecology, Hôpital Félix Guyon, 97400 Saint-Denis, Reunion;
6 Praticien Hospitalier, Department of Genetic, Hôpital Félix Guyon, 97400 Saint-Denis, Reunion.


(Edited by Franti Grochal)

These two cases represent the same fetal pathology - amniocentesis revealed normal karyotype (46XY) in both cases.

Case 1

23-year-old woman (G2P1) with non-contributive history was sent to our unit at 29 weeks, 4 days of gestational age due to polyhydramnios. Her biochemical double test (AFP and HCG) was reported to be normal (in some practices in Slovakia, only the double test is performed instead of triple test).

Our examination found multiple fetal anomalies:


Images 1, 2: 29 weeks, 4 days of gestational age.




Images 3, 4: 29 weeks, 4 days of gestational age.



Image 5 and video 1: 29 weeks, 4 days of gestational age.

 

Images 6, 7, and 8: 29 weeks, 4 days of gestational age.





Image 9: 29 weeks, 4 days of gestational age.



Images 10, 11: 29 weeks, 4 days of gestational age.



Images 12, 13, and 14: 29 weeks, 4 days of gestational age.





Images 15, 16, 17, 18, 19, 20, 21, 22, and 23: 29 weeks, 4 days of gestational age.











Case 2

A 36-year-old woman (G2P1) from a non consanguineous couple, with non contributive history, was scanned in our facility during her first and second trimester of pregnancy.

During the first ultrasongraphic examination, an abnormal nuchal translucency (5.7 mm) was noted (Image 1). Amniocentesis was done consequently, but revealed normal karyotype (46,XY).

Her second ultrasound was done at 21 weeks of pregnancy.

Here are some images that we obtained:

Image 1:



Images 2, 3, 4, and 5:





Images 6, 7, 8, 9, and 10:







Images 11, 12:


 

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