Ultrasonic markers of fetal syndromes. Dysmorphic abnormalities detectable by ultrasound in the era of prenatal diagnosis

From piece to a full puzzle

A dysmorphic feature is a difference of body structure. It can be an isolated finding, part of normal human variation in an otherwise normal individual, or it can be related to a congenital disorder, birth defect or genetic syndrome.
Dysmorphic features can vary from isolated, mild anomalies and minor cosmetic imperfections (such as polydactyly)  to severe congenital anomalies (such as holoprosencephaly).
In some cases, dysmorphic features are part of a larger clinical picture, sometimes known as a sequence, association or syndrome.  
A syndrome is a pattern of multiple anomalies thought to be pathologically related, particular combination of major (essental) and minor (may be absent) criteria.
So, why searching for fetal syndromes?
Early diagnosis is very important especially in the delineation of best care for the patient, prognosis, likelihood of other abnormalities, identifying correct recurrence risk and the best approach to monitor future pregnancies.
Being able to provide as clear information as possible is of great importance to avoid confusion in parents as well as healthcare providers, to make a management plan and to put everything in the perspective.
Recognizing the patterns of fetal malformations is extremely useful for sonologist, practitioners providing prenatal diagnosis.
Ultrasound findings of abnormalities and patterns of more common fetal syndromes as well as some less common fetal syndromes are lined up in this presentation. 
Technological advances in ultrasonography, particulary the introduction of high definition 3D and 4D ultrasound allowed us to study fetal anatomy  in great detail in very early stages of fetal life, which on their hand helped us to detect fetal abnormalities easier and even earlier than ever before.
Beside fetal anatomy, we are now even able to study a function of some systems and fetal behavior. Fetal behavioral patterns are directly reflecting development and maturational process of fetal CNS. KANET test is the first method that attempted to use 4D US in order to asses and combine different parameters of fetal behavior and form a scoring system in order to determine their neurological status. So, now we are beeing able to detect not only structural abnormalities, but also their functional and behavioral abnormality patterns releted to a fetal syndrome in era of prenatal diagnosis.

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