Vol. 9, Issue 2 (2020)

Author(s):
Iffat Ara Zabeen, Md. Mehdi Hasan and Zubaida Khatun

Abstract:
As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmes have focused on common genetic disorders. Rare single gene disorders are an important source of morbidity and premature mortality for affected families. About 2-3% of all live births suffer from congenital abnormality globally and 70% of those are preventable through community genetics services. The estimated prevalence of congenital abnormalities is about 2-4% in live births along with still born and aborted fetus. As child mortality rates overall are decreasing, non-communicable conditions, such as genetic disorders, constitute an increasing proportion of child mortality, morbidity and disability. To date, policy and public health programmers have focused on common genetic disorders. Rare single gene disorders are an important source of morbidity and premature mortality for affected families. This review will provide a context for the general evaluation of a neonate with congenital anomalies, including adaptation of the most precise terminology, definition of major and minor anomalies, and the determination of whether the anomalies are the result of a sequence, deformation, disruption, or malformation. Practical tools, including a concise family history, nutritional implication, pregnancy history, and the effects of assisted reproductive technologies are also presented.