Genetic Assessment of Abnormal Newborn

Question 1

Malformation: __-__ congenital anomaly due to an alteration of primary developmental program. Typically occurs during the __ __.

Answer 1

Malformation: non-progressive congenital anomaly due to an alteration of primary developmental program. Typically occurs during the embryonic period.

Question 2

Disruption: non-progressive anomaly due to the breakdown of a body structure that had a __ __ __. Caused by __, __, __ or __ causes that still HAPPENS IN UTERO.

Amniotic banding

Answer 2

Disruption: non-progressive anomaly due to the breakdown of a body structure that had a normal developmental potential. Caused by vascular, infectious, teratogen or mechanical causes that still HAPPENS IN UTERO.

Amniotic banding

Question 3

Deformation: altered shape or position of a body part due to abnormal __ forces that distort otherwise normal structures. May result in loss of __, altered alignment or __ position

ex/ __, __ __ anatomy, __ gestations

Usually reversible POSTNATALLY, but depends on how longstanding they are.

Answer 3

Deformation: altered shape or position of a body part due to abnormal mechanical forces that distort otherwise normal structures. May result in loss of symmetry, altered alignment or abnormal position

ex/ Oligohydramnios, abnormal uterine anatomy, multiple gestations

Usually reversible POSTNATALLY, but depends on how longstanding they are.

Question 4

Dysplasia: anomaly arising pre or postnatally from dynamic and ongoing __ of __ constitution, __ organization or function within a specific organ or tissue

The tissue is intrinsically abnormal (ex/ skeletal dysplasia)

Answer 4

Dysplasia: anomaly arising pre or postnatally from dynamic and ongoing alteration of cellular constitution, tissue organization or function within a specific organ or tissue

The tissue is intrinsically abnormal (ex/ skeletal dysplasia)

Question 5

Sequence: one or more secondary anomalies that cascaded from a single malformation, disruption, deformation or dysplasia.

A single anomaly may result in a sequence of events that result in other anomalies

Example?

Answer 5

Ex/ Pierre Robin Sequence: the initial anomalie is a small mandible, the tongue is displaced upwards, which interferes with the closure of the palatal shelves, leading to cleft palate

Question 6

When there are several anomalies, what etiologies do you think of?

Answer 6

Chromosome abnormality (less likely to be single gene)

Genetic syndrome due to a mutation in a gene (Mendelian)

Teratogens (meds, maternal diabetes)

Unknown