Kuwata Tomoyuki, Matsubara Shigeki, Ohkusa Takashi, Yada Yukari, Suzuki Mitsuaki
Department of Obstetrics and Gynecology and Jichi Perinatal Education Center, Jichi Medical University, Tochigi, Japan.
J Obstet Gynaecol Res. 2011 Jul;37(7):921-5. doi: 10.1111/j.1447-0756.2010.01438.x. Epub 2011 Mar 13.
We highlight the merit of fetal movement count to identify a fetus with neuromuscular disorder: nemaline myopathy. A 38-year-old 1-para woman not in a consanguineous marriage had decreased fetal movement. This, together with increased amniotic fluid volume, led us to perform detailed ultrasound examinations, which revealed stretch contracture of the knee joints, leading us to suspect fetal neuromuscular disorders. At 38(2/7), she gave birth vaginally to a 2444 g female infant. Her respiration was very weak, requiring respiratory support. Contractures of the upper/lower extremity joints and club feet were observed. All skeletal muscles were hypotonic. Biopsized muscle cells showed nemaline bodies, confirming the diagnosis of nemaline myopathy. Fetal movement count may contribute to the identification of fetal neuromuscular diseases, such as nemaline myopathy.
