1.
Prenatal Detection of Birth defects
NURSING CARE OF THE PREGNANT CLIENT
I. PRENATAL DIAGNOSIS
● Prenatal diagnosis determine whether the fetus has certain
abnormalities, including certain hereditary or spontaneous
genetic disorders. Some of these tests, such as ultrasonography
and certain blood tests, are often part of routine prenatal care.
Usually, these more invasive tests done when couples have an
increased risk of having a baby with a genetic abnormality (such
as a neural tube defect) or a chromosomal abnormality
(particularly when the woman is 35 or older). These tests have
risks, although very small, particularly for the fetus.
● If in vitro fertilization is done, genetic disorders can sometimes
be diagnosed before the fertilized egg is transferred from the
culture dish to the uterus. These tests are available only in
specialized centers and are used primarily for couples with a high
risk of certain genetic disorders (such as cystic fibrosis) or
chromosomal abnormalities.
● Couples should discuss the risks with their health care
practitioner and weigh the risks against their need to know.
II. METHODS
Ultrasonography
● It has no known risks for the woman or fetus.
● Ultrasonography can do the following:
� confirm the length of the pregnancy
� locate the placenta
� indicate whether the fetus is alive
� After the third month, detect certain obvious structural
birth defects, including those of the brain, spinal cord,
heart, kidneys, stomach, abdominal wall, and bones
� in the 2nd trimester, detect findings that tend to
indicate a higher-than-normal chance of a
chromosomal abnormality in the fetus
● Ultrasonography is done before chorionic villus sampling and
amniocentesis to confirm the length of the pregnancy so that
these procedures can be done at the appropriate time during the
pregnancy. During these procedures, ultrasonography is used to
monitor the fetus and to guide placement of instruments.
● At some specialized medical centers, targeted ultrasonography
can be done. For this test, experts carefully assess the fetus to
check for structural defects that indicate an increased risk of a
chromosomal abnormality. This test can provide greater detail
than conventional ultrasonography. Thus, this test may detect
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smaller abnormalities, and abnormalities can be seen
earlier, more accurately, or both.
Chorionic Villus Sampling
● In here, a doctor removes a small sample of the chorionic
villi, which are tiny projections that make up part of the
placenta.
● The main advantage of chorionic villus sampling is that its
results are available much earlier in the pregnancy than
those of amniocentesis. Thus, if no abnormality is detected,
the couple's anxiety can be relieved earlier.
● Before the chorionic villus sampling, ultrasonography is
done to determine whether the fetus is alive, to confirm the
length of the pregnancy, to check for obvious abnormalities,
and to locate the placenta.
● A sample of the chorionic villi can be removed through the
cervix(transcervically) or the abdominal wall
(transabdominally). With both methods, ultrasonography is
used for guidance and the tissue sample is suctioned
through a needle or catheter with a syringe and then sent for
laboratory analysis. Many women have light spotting for a
day or two afterward.
● Methods used to acquire a sample of the chorionic villi :
� Through the cervix: The woman lies on her back
with her hips and knees bent, usually supported
by heel or knee stirrups, as for a pelvic
examination. The doctor inserts a thin, flexible
tube (catheter) through the vagina and cervix into
the placenta. For most women, the procedure
feels very similar to a Papanicolaou (Pap) test, but
a few women find it more uncomfortable. This
method cannot be used in women who have an
active genital infection (such as genital herpes or
gonorrhea), chronic inflammation of the cervix, or
a placenta that covers the passage between the
cervix and uterus.
� Through the abdominal wall: The doctor
anesthetizes an area of skin over the abdomen and
inserts a needle through the abdominal wall into
the placenta. Most women do not find this
procedure painful. But for some women, the area
over the abdomen feels slightly sore for an hour
or two afterward.
● After chorionic villus sampling, most women who have Rh-
negative blood and who do not have antibodies to Rh factor
are given an injection of Rh0 (D) immune globulin to
prevent them from producing antibodies to Rh factor A
woman with Rh-negative blood may produce these
antibodies if the fetus has Rh- positive blood and it comes
into contact with her blood, as it may during chorionic
villus sampling. These antibodies can cause problems in the
fetus. The injection is not needed if the father also has Rh-
negative blood because in such cases, the fetus always has
Rh-negative blood.
Amniocentesis
● often offered to women over 35 to estimate their risk of
having a baby with Down syndrome
● In this procedure, a sample of the fluid that surrounds the
fetus (amniotic fluid) is removed and analyzed.
Amniocentesis is usually done at 15 weeks of pregnancy or
later. The fluid contains cells that have been shed by the
fetus. These cells are grown in a laboratory so that the
chromosomes in them can be analyzed.
● Amniocentesis enables doctors to measure the alpha-
fetoprotein level in the amniotic fluid. This measurement
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[OB LEC.] 1. Prenatal detection of birth defects

more reliably indicates whether the fetus has a brain or spinal ● Percutaneous umbilical blood sampling is an invasive
cord defect than does measurement of this level in the woman's procedure and has risks for the woman and fetus. Loss of
blood. the pregnancy as a result of this test occurs in about 1 in
● Procedure: 100 procedures.
� Before the procedure, ultrasonography is done to
evaluate the heart of the fetus, to confirm the length of
the pregnancy, to locate the placenta and amniotic
fluid, and to determine how many fetuses are present.
� A doctor inserts a needle through the abdominal wall
into the amniotic fluid. Sometimes a local anesthetic is
first used to numb the site. During the procedure,
ultrasonography is done so that the fetus can be
monitored and the needle can be guided into place.
Fluid is withdrawn, and the needle is removed. Results
are usually available in about 1 to 2 weeks.
● Occasionally, the amniotic fluid contains blood from the fetus.
Such blood may increase the alpha-fetoprotein level, making the
results hard to interpret.
● Amniocentesis rarely causes any problems for the woman or the
fetus. The following may occur:
� Soreness: Some women feel slightly sore for an hour
or two afterward.
� Spotting of blood or leakage of amniotic fluid from
the vagina: About 1 to 2% of the women have these
problems, but the problems do not last long and usually
stop without treatment.
� Miscarriage: The chance of miscarriage due to
amniocentesis is about 1 in 500 to 1,000.
� Needle injuries to the fetus: These injuries are very
rare.

Percutaneous Umbilical Sampling

● used when rapid chromosome analysis is needed, particularly
toward the end of pregnancy when ultrasonography has detected
abnormalities in the fetus.
● Often, results can be available within 48 hours. It is occasionally
done for other reasons—for example, when doctors suspect that a
fetus has anemia. If the fetus has severe anemia, blood can be
transfused to the fetus during percutaneous umbilical blood
sampling.
● Procedure:
� The doctor first anesthetizes an area of skin over the
abdomen. Guided by ultrasonography, the doctor then
inserts a needle through the abdominal wall into the
umbilical cord. A sample of the fetus's blood is
withdrawn and analyzed, and the needle is removed.

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