Prenatal diagnosis of Emanuel syndrome - case series and review of the literature

• Published in: Journal of obstetrics and gynaecology Vol. 42; no. 7; pp. 2615 - 2620
• Main Authors: Piwowarczyk, Patrycja, Massalska, Diana, Obodzińska, Izabela, Gawlik Zawiślak, Sylwia, Bijok, Julia, Kucińska-Chahwan, Anna, Roszkowski, Tomasz
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 03-10-2022; Taylor & Francis Ltd
• Subjects: balanced translocation t(11;22); Chromosome Disorders; Dandy-Walker malformation; Emanuel syndrome; Female; Genetic testing; Hernia, Diaphragmatic; Hernias; Humans; Literature reviews; Medical diagnosis; posterior fossa abnormalities; Pregnancy; Prenatal Diagnosis; supernumerary dert(11;22); Ultrasonic imaging; Ultrasonography, Prenatal - methods; supernumerary dert(11;22); Dandy-Walker malformation; posterior fossa abnormalities; balanced translocation t(11;22); prenatal diagnosis; Emanuel syndrome
• ISSN: 0144-3615; 1364-6893
• DOI: 10.1080/01443615.2022.2114331

We present three new cases and review of the literature on the prenatal diagnosis of Emanuel syndrome (ES). Twenty-one foetuses have been analysed. In all three cases diagnosed in our department, posterior fossa abnormalities were seen and in one hypoplastic right ventricle was diagnosed at the first trimester scan. Defects of the posterior fossa (62% of foetuses; 13/21) and left diaphragmatic hernia (29% of foetuses; 6/21) are the most frequently reported prenatal findings in ES syndrome. No pattern of specific prenatal ultrasound markers of ES exists. Abnormalities of the posterior fossa are frequent and may be diagnosed as early as in the first trimester of pregnancy. Specific diagnosis can be made only after invasive genetic testing.
IMPACT STATEMENT
What is already known on this subject? Emanuel syndrome (ES) is a rare genetic disorder. No pattern of specific prenatal ultrasound markers exists. The great majority of cases is diagnosed postnatally and only a few cases of prenatal diagnosis have been published to date.
What do the results of this study add? The most frequent structural abnormalities in prenatally detected ES involved central nervous system (80.9%), namely posterior fossa defects (57.1%) and mild ventriculomegaly (23.8%). Other frequent abnormalities include left diaphragmatic hernia (28.6%), renal defects (23.8%) and foetal growth restriction (FGR) (23.8%).
What are the implications of these findings for clinical practice and/or further research? Abnormalities of the posterior fossa are the most frequent defects in ES and may be diagnosed as early as in the first trimester of pregnancy. Specific diagnosis can be made only after invasive genetic testing.