Ontology highlight
ABSTRACT:
SUBMITTER: Miyazaki J
PROVIDER: S-EPMC4623244 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Miyazaki Jun J Ito Mayuko M Nishizawa Haruki H Kato Takema T Minami Yukito Y Inagaki Hidehito H Ohye Tamae T Miyata Masafumi M Boda Hiroko H Kiriyama Yuka Y Kuroda Makoto M Sekiya Takao T Kurahashi Hiroki H Fujii Takuma T
BMC medical genetics 20151026
<h4>Background</h4>In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).<h4>Case presentation</h4>This healthy couple had previously had a healthy boy but had experienced two consecutive neonatal deaths due to respiratory distress resulting from pulmonary hypoplasia caused by oligohydramnios. The woman consulted our facility after she realized she was pregnant again. We promptly performed a carrier test for ...[more]