Kurume Med J
. 2026 May 15.
doi: 10.2739/kurumemedj.MS721234003. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/42144364/
A Case of Emanuel Syndrome Diagnosed with Congenital Diaphragmatic Hernia at 15 Weeks and 1 Day of Gestation Followed by Increased Nuchal Translucency: A Case Report and Literature Review
Y U Okamura 1, Takashi Horinouchi 1, Toshiyuki Yoshizato 1, Yusuke Kurokawa 1, Megumi Muto 1, Masato Yokomine 1, Naotake Tsuda 1
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- PMID: 42144364
- DOI: 10.2739/kurumemedj.MS721234003
Free article
Abstract
Congenital diaphragmatic hernia (CDH) diagnosed in the first or early second trimester is exceedingly rare. We herein present a unique case of Emanuel syndrome identified through early sequential findings of increased nuchal translucency (NT) and CDH. A 34-year-old Japanese woman was referred at 14 weeks of gestation because of an elevated NT of 3.9 mm detected at 12 weeks, with no other markers of aneuploidy. At 15+1/7 weeks, an ultrasound revealed right-sided heart displacement, a tubular structure near the heart, and a cystic structure on the left, presumed to be the stomach and intestines, respectively-findings indicative of CDH. Fetal karyotyping via amniocentesis confirmed Emanuel syndrome with a karyotype of 47,XY,+der(22) t(11;22)(q23.3;q11.2). This case suggests that early detection of increased NT could lead to the early diagnosis of CHD, which, in our case, was part of Emanuel syndrome.
Keywords: Emanuel syndrome; congenital diaphragmatic hernia; nuchal translucency; prenatal diagnosis; ultrasonography.
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