Tomomi Kotani1,2, Takafumi Ushida3, Noriyuki Nakamura3, Kenji Imai3,4, Yukako Iitani3, Sho Tano3, Shigenori Iwagaki5, Yuichiro Takahashi5, Miharu Ito6, Masahiro Hayakawa6, Hiroaki Kajiyama3. 1. Department of Obstetrics and Gynecology, Nagoya University Graduate School of Medicine, Nagoya, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan. itoto@med.nagoya-u.ac.jp. 2. Division of Perinatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8560, Japan. itoto@med.nagoya-u.ac.jp. 3. Department of Obstetrics and Gynecology, Nagoya University Graduate School of Medicine, Nagoya, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8550, Japan. 4. Division of Perinatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8560, Japan. 5. Division of Fetal-Maternal Medicine, Gifu Prefectural General Medical Center, 4-6-1, Noishiki, Gifu, 500-8717, Japan. 6. Division of Neonatology, Center for Maternal-Neonatal Care, Nagoya University Hospital, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8560, Japan.
Abstract
BACKGROUND: 5p deletion syndrome is known as cri-du-chat syndrome, but there are no reports on congenital diaphragmatic hernia complications associated with it. CASE PRESENTATION: A 28-year-old primigravida Japanese woman was referred for 5 mm of nuchal translucency. Fetal growth restriction was found at 20 weeks, and a left-sided congenital diaphragmatic hernia was diagnosed at 24 weeks. The karyotype of the fetus was diagnosed as 46, XX, del(5)(p14) and referred to our hospital. At 36 + 6 weeks, a 1524 g female infant was delivered after premature membrane rupture, with Apgar scores of 4 and 6 at 1 and 5 minutes, respectively. The baby was intubated immediately with sedation and muscle relaxation, after birth for initial treatment for congenital diaphragmatic hernia. The peripheral blood karyotype was consistent with the prenatal result. The infant was discharged alive, without any respiratory support, after the defect of the diaphragm was repaired. CONCLUSION: The results of this study may be helpful for antenatal genetic counseling.
BACKGROUND: 5p deletion syndrome is known as cri-du-chat syndrome, but there are no reports on congenital diaphragmatic hernia complications associated with it. CASE PRESENTATION: A 28-year-old primigravida Japanese woman was referred for 5 mm of nuchal translucency. Fetal growth restriction was found at 20 weeks, and a left-sided congenital diaphragmatic hernia was diagnosed at 24 weeks. The karyotype of the fetus was diagnosed as 46, XX, del(5)(p14) and referred to our hospital. At 36 + 6 weeks, a 1524 g female infant was delivered after premature membrane rupture, with Apgar scores of 4 and 6 at 1 and 5 minutes, respectively. The baby was intubated immediately with sedation and muscle relaxation, after birth for initial treatment for congenital diaphragmatic hernia. The peripheral blood karyotype was consistent with the prenatal result. The infant was discharged alive, without any respiratory support, after the defect of the diaphragm was repaired. CONCLUSION: The results of this study may be helpful for antenatal genetic counseling.
Authors: Jan Deprest; Paul Brady; Kypros Nicolaides; Alexandra Benachi; Christoph Berg; Joris Vermeesch; Glenn Gardener; Eduard Gratacos Journal: Semin Fetal Neonatal Med Date: 2014-11-11 Impact factor: 3.926
Authors: Kitty G Snoek; Irwin K M Reiss; Anne Greenough; Irma Capolupo; Berndt Urlesberger; Lucas Wessel; Laurent Storme; Jan Deprest; Thomas Schaible; Arno van Heijst; Dick Tibboel Journal: Neonatology Date: 2016-04-15 Impact factor: 4.035
Authors: P C Mainardi; C Perfumo; A Calì; G Coucourde; G Pastore; S Cavani; F Zara; J Overhauser; M Pierluigi; F D Bricarelli Journal: J Med Genet Date: 2001-03 Impact factor: 6.318