Birth Defects

A birth defect, or congenital28 anomaly, is the abnormal structure

or position of an organ at birth, resulting from a defect in prenatal
development. The study of birth defects is called teratology.29 Birth
defects are the single most common cause of infant mortality in
North America. Not all of them are noticeable at birth; some are
detected months to years later. Thus, by the age of 2 years, 6% of
children are diagnosed with congenital anomalies, and by age 5,
the incidence is 8%. The following sections discuss some known
causes of congenital anomalies, but in 50% to 60% of cases, the
cause is unknown.
Mutagens and Genetic Anomalies
Genetic anomalies are the most common known cause of birth
defects,
accounting for an estimated one-third of all cases and 85%
of those with an identifiable cause. One cause of genetic defects is
mutations, or changes in DNA structure. Among other disorders,
mutations cause achondroplastic dwarfism (see Deeper Insight 6.3,
p. 142), microcephaly (abnormal smallness of the head), stillbirth,
and childhood cancer. Mutations can occur through errors in DNA
replication during the cell cycle or under the influence of environmental
agents called mutagens, including some chemicals, viruses,
and radiation.
Some of the most common genetic disorders result not from
mutagens, however, but from aneuploidy30 (AN-you-ploy-dee),
an abnormal number of chromosomes in the zygote. Aneuploidy
results
from nondisjunction, a failure of one of the 23 pairs of
chromosomes to separate during meiosis, so that both members of
the pair go to the same daughter cell. For example, suppose nondisjunction
resulted in an egg with 24 chromosomes instead of the
normal 23. If this egg were fertilized by a normal sperm, the zygote
would have 47 chromosomes instead of the usual 46.
Figure 4.12 compares normal disjunction of the X chromosomes
with some effects of nondisjunction. In nondisjunction,
an egg cell may receive both X chromosomes. If it is fertilized
by an X-bearing sperm, the result is an XXX zygote and a suite
of defects called the triplo-X syndrome. Triplo-X females are
sometimes infertile
and may have mild intellectual impairments.
If an XX egg is fertilized by a Y-bearing sperm, the result is an
XXY combination, causing Klinefelter31 syndrome. People with
Klinefelter syndrome are sterile males, usually of average intelligence,
but with undeveloped testes, sparse body hair, unusually
long arms and legs, and enlarged breasts (gynecomastia32). This
Before You Go On
Answer the following questions to test your understanding of the
preceding section:
5. What is the criterion for classifying a developing individual as
an embryo? What is the criterion for classifying it as a fetus? At
what gestational ages are these stages reached?
6. In the blastocyst, what are the cells called that eventually
give rise to the embryo? What are the cells that carry out
implantation?
7. Name and define the three principal processes that occur in
the preembryonic stage.
8. Name the three primary germ layers and explain how they
develop in the embryonic disc.
9. Distinguish between trophoblastic and placental nutrition.
10. State the functions of the placenta, amnion, chorion, yolk sac,
and allantois.
11. Define and describe the neural tube, primitive gut, somites,
and pharyngeal pouches.
4.3
Clinical
Perspectives
Expected Learning Outcomes
When you have completed this section, you should be able to
discuss the frequency and some causes of early
spontaneous abortion;
discuss some types of birth defects and major categories
of their causes;
describe some syndromes that result from chromosomal
nondisjunction; and
explain what teratogens are and describe some of their
effects.
Expectant parents worry a great deal about the possibilities of
miscarriage
or birth defects. It is estimated that, indeed, more than
half of all pregnancies end in miscarriage, often without the parents
realizing that a pregnancy had even begun, and 2% to 3% of infants
born in the United States have clinically significant birth defects.
Spontaneous Abortion
Most miscarriages are early spontaneous abortions, occurring
within 3 weeks of fertilization. Such abortions are easily mistaken
for a late and unusually heavy menstrual period. One investigator
estimated that 25% to 30% of blastocysts fail to implant; 42% of
implanted blastocysts die by the end of the second week; and 16%
of those that make it through 2 weeks are seriously abnormal and
abort within the next week. Another study found that 61% of early
spontaneous abortions were due to chromosomal abnormalities.
28con = with; gen = born
29terato = monster; logy = study of
30an = not; eu = good, normal; ploid = form
31Harry F. Klinefelter, Jr. (191290), American physician
32gyneco = female; mast = breast; ia = condition
(a) Normal disjunction of X chromosomes
Parent cell with two X chromosomes
Disjunction
Each daughter cell
receives one
X chromosome
One daughter cell
gets both
X chromosomes
One daughter cell
gets no
X chromosome
Nondisjunction
Sperm adds an
X chromosome
Sperm adds an
X or Y chromosome
XX zygote XY zygote XXX zygote XO zygote
Normal female Normal male Triplo-X syndrome Turner syndrome
Parent cell with two X chromosomes
(b) Nondisjunction of X chromosomes
XX
X
X Y X X
X
X X
XX
XX
XX
XX XY