szaman1971

Couple years ago I have diagnosed CCHS. It was clinical diagnosis not confirmed by genetic test. There is no pharmacological treatment, but I had good results with caffeine citrate. Long term treatment inculded tracheostomy and home respiratory support during sleep. When patient was not sleeping, he was breathing spontaneously. I've read about implantation of diaphragamic pacemaker. Visit http://www.cchsnetwork.org or http://www.undinesyndrom.de (only in deutch) for more information Jacek Czop Szpital Konin Poland

In Poland since last 2 years all newborns has a preductal pulsoximetry before discharge. For scientific purposes inclusion criteria are gestational age >34hbd and no signs of circulatory or respiratory problems, exclusion criteria is serious congenital anomalies [this babies has pulsoximetry due to ilness]. The baby should be calm and nourished. In my unity (2000 deliveries per year) we did not identify a child with CDH since introducing this test. The test is performed after 2 hours of life before transition from delivery room to maternal unit. Testing takes 3 minutes. If preductal sat is >=95% the test is negative, if the preductal sat is < 95% (positive test) we repeat the test before discharge [24 -36 hours of life or later] - newborns usually are discharged after 48 hours of life). If sat is <95% we perform screening echocardiography. In babies with heart murmur or marked cyanosis on physical examination despite negative puloximetry test (sat >=95) we usually make echo to exclude CHD. I know that first test is performed very early ( maybe too early - DA still opened). But performing test before transition from delivery room provides in that we don't miss the baby to screen. I am not a fan of this test but I see that my assistants, nurses, midwives and parents accepted this test. The most important is that it is not invasive, easy to perform and repeated. And my observation is that we perform less screening echocariography thanks to this test ( of course data not published).