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2004-05-13 Case of the week # 120 © Gourand

Case of the week # 120

June 4-17, 2004

Luc Druart, MD*, Hélène Dessuant, MD*, Luc Gourand, MD**, Bettina Bessières, MD***, Fernand Daffos, MD****

* Cytogénétique LCL, Paris ** Maternité Les Bluets, Paris, *** Service de Foetopahologie IPP Paris, ****Médecine Foetale, IPP, Paris

A 44 year-old patient, G2 P1,  with an unremarkable medical history. She has a previous child (10 year-old), healthy. This is her
2nd pregnancy, and it is with a different father. First scan at 12 week, regarded as normal, sreening in particular for signs of aneuploïdy :
nasal bone visible (not visible on this picture), NT 1,9/56 mm, Doppler ductus venosus positive “a” wave, normal growth and vitality.



A appointment was made (because of maternal age) for a routine amniocentesis (it was delayed for personal reasons)

At the time of amniocentesis  (19 week) the following findings came as a surprise :
severe growth retardation < 3rd percentile, ventricular septal defect, ductus venosus abnormal doppler.


The cytogeneticist phoned to inform us he had an abnormal karyotype but was puzzled with the conclusion  and was wondering about blood fetal sampling (in the mean time, he would try to solve the case with FISH technique)

So the patient was scanned again (21 week) with these findings :
Intrauterine death with severe IUGR below the 3d percentile, fetal hydrops.





When you have tried to solve the case on your own (no team work here please !) you can find the Answer here.