Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics.
We report a case of Congenital Central Hypoventilation syndrome (CCHS), diagnosed in utero at 18 weeks' gestation analysis of repeats in the PHOX2b gene in fetal amniocytes and confirmed at delivery. Prenatal diagnosis allowed for serial detailed assessment of fetal breathing characteristics. Fetal breathing in this affected fetus was indistinguishable from breathing characteristics in the non-affected fetus.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, New York Medical College/Westchester Medical Center, Valhalla, NY, USA.
G P
GP
Rajendran
M S
MS
Kessler
F A
FA
Manning
D000649:Amniocentesis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D018670:Monitoring, Ambulatory; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012119:Respiration; D020182:Sleep Apnea, Central / Q000151:congenital / Q000175:diagnosis* / Q000503:physiopathology*; D014157:Transcription Factors / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics; D055815:Young Adult
D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors