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Cystic Hygroma

Definition

Multiple cysts at the side and back of the fetal neck
Incidence 1:600 second trimester pregnancies
Diagnosis Ultrasound appearances of fluid filled cysts around neck containing thin septae (lines).  Fetus may be hydropic at presentation
Gestation at diagnosis 12 weeks onwards
Known chromosomal or genetic association Yes, associated with chromosomal problems (Turners syndrome (XO), and trisomies 21, 18, and 13).  Also associated with genetic syndromes, Noonans, Aperts and Multiple Pterygia
Further investigations Karyotype.
Differential Diaganosis

Increased nuchal fold

Lyphangioma

Occipital Encephalocele

Prognosis Most pregnancies will miscarry, remainder have likely to have some significant abnormality (eg cardiac abnormality).  ~10% survive without major morbidity.
Recurrance risk If due to Turners syndrome very low.  Other syndrome causes may be higher
Research Studies None

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