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

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.