MEDICAL ASPECTS OF

DEVELOPMENTAL BIOLOGY

DISEASES OF DEVELOPMENT

GENETIC ERRORS OF HUMAN DEVELOPMENT

It is estimated that one-half to two thirds of all
human conceptions do not develop successfully
to term.
Many of these embryos express their abnormality
so early that they fail to implant in the uterus.
Others implant but fail to establish a successful
pregnancy.
Thus, most embryos are spontaneously aborted,
often before a woman even knows she is
pregnant (Boue et al. 1985).

GENETIC ERRORS OF HUMAN DEVELOPMENT

Using a sensitive immunological test
that detects the presence of human
chorionic gonadotropin (hCG) as early
as 8 or 9 days after fertilization,
Edmonds and co-workers (1982)
monitored 112 pregnancies in normal
women.
Of these hCG-determined pregnancies,
67 (about 59%) were not maintained.

GENETIC ERRORS OF HUMAN DEVELOPMENT

Most early embryonic and fetal demise
is probably due to chromosomal
abnormalities that interfere with
developmental processes.
There are also defects that are not
deleterious to the fetus (which does
not depend on organs such as the
brain, kidneys, and lungs while inside
the mother) but that can threaten life
once the baby is born.

GENETIC ERRORS OF HUMAN DEVELOPMENT

Winter (1996; Epstein 2008) has estimated
that approximately 2.5% of newborns have
a recognizable birth defect.
Congenital ("present at birth")
abnormalities and losses of the fetus prior
to birth have both intrinsic and extrinsic
causes.
Those abnormalities caused by genetic
events may result from mutations,
aneuploidies (improper chromosome
number), and translocations (Opitz 1987).

GENETIC ERRORS OF HUMAN DEVELOPMENT

Even an extra copy of the tiny
chromosome 21 disrupts numerous
developmental functions.
This trisomy 21 causes a set of
anomaliesamong them facial muscle
changes, heart and gut abnormalities,
and cognitive problems collectively
known as Down syndrome.