PRENATAL GENETIC DIAGNOSIS: Rationale -

detects elevated level of AFP (Alpha-Keto-

Protein) test to indicate the presence of a
neural-tube defect in a developing fetus.

1. Ultrasonography
2. Radiography
3. Fetoscopy
4. Amniocentesis (14-16 wks of pregnancy)
5. Chorionic sampling

Rh incompatibility
Tay-Sachs disease
PKU (Phenyl-ketonuria)
Down’s syndrome (women above 35)
Huntington’s chorea

METHODS OF PRE-NATAL DIAGNOSIS;

1. Amniocentesis: - puncture of the amniotic sac

via transabdominal approach in order to obtain
amniotic. Accomplished by introducing a needle
through the abdominal wall and uterus of the
pregnant womAn. About 300 cc of amniotic fluid is
extracted. This contains fetal cells which are cultured
for 3 to 4 weeks, before they are examined in the
laboratory. Detects chromosomic abnormality or other
congenital defects of the fetus.
The results of amniocentesis are valid only when
the examination is done at least after 16 weeks of
gestation. During this time there is a good relation
between fetal size and the amount of amniotic fluid.
The cells obtained are cultured for 3 weeks in the
laboratory. Thus there is no way of diagnosing until
after 20 weeks of gestation.
(1)
2. Fetoscopy: - direct visualization of the placenta and
the fetus utilizing fiber optic instruments.

3. Funiculocentesis: - blood samples are extracted from the

umbilical cord by means of an ultrasound-guided
needle. Better than fetoscopy and is morally licit.

4. Ultrasonography: - ultrasonographic imaging of the

organs and soft tissues.

5. Radiology: -direct fetal radiography (simple fetography) and

contrast radiography (amniography).

6. Chorionic biopsy: - a sample of tissue of the chorionic

villi is obtained for the purpose of chromosomic or
biochemical analysis. This is accomplished via the
transcervical or transabdominal approach. Chorionic
biopsy gives faster results than amniocentesis. Both
procedures, however, are viewed with ethical reservations.

ETHICAL EVALUATION OF AMNIOCENTESIS:

Risks in amniocentesis:
1. Complication of pregnancy and delivery;
2. Increase in the index of pre-maturity and pre-
natal morbidity;
3. Error in diagnosis.
4. Incidence of hemorrhage, placental
detachment, spontaneous abortion, fetal and
maternal mortality – 1 to 2%.
5. Maternal death – rare (one for every 20,000
amniocentesis)
 (2)
Criteria to be followed regarding risks of
amniocentesis:

A diagnostic test must not carry more than 2%

risk. If the probability of discovering genetic
pathology in a fetus is 2%, one may resort to
amniocentesis only exceptionally, because the
method carries the same or even a greater risk for the
fetus itself.
Therefore, amniocentesis is only recommended
for pregnancies with a high probability of
chromosomic abnormality or congenital defect in the
fetus: - elderly primigravida, familial history, etc.
To date: there is no available treatment for
congenital abnormalities discovered “in utero” or at
birth. Whenever the results of amniocentesis are
positive for congenital disease, the only alternative
that can be offered is abortion.

QUESTION? - Why undergo a risky diagnostic test

when the only therapeutic alternative is induced
abortion?

There are human and ethical reservations besides

scientific limitations in genetic counseling and pre-
natal diagnosis.

(3)
IS PRENATAL DIAGNOSIS MORALLY LICIT?
Donum vitae, no. 2, answers the ethical implications:

1. It is licit if it respects the life and integrity of the embryo

and human fetus and is directed towards safeguarding
or healing an individual. Pre-natal diagnosis enables
one to know the conditions of the embryo and of the
fetus when still in the mother’s womb. It permits early
diagnosis and more effective application of certain
therapeutic, medical or surgical procedures. Such
diagnosis is permissible:

a) with the consent of the parents after they have

been duly informed;
b) if the methods employed safeguard the life and
integrity of the embryo and the mother, without
subjecting them to disproportionate risks.
2. Pre-natal diagnosis is illicit, i.e., goes against the
Moral Law when depending on the results,
selective induced abortion is intended. “A diagnosis of
malformation or hereditary disease must not be equated
with a death sentence”. Therefore, it is gravely illicit to
perform pre-natal diagnosis:
c) when a woman requests diagnosis with the
deliberate intention of procuring abortion once
malformation or abnormality of the fetus is
confirmed.
d) When the husband or other relatives or anybody
were to advise or impose on the expectant
mother undergoing a diagnostic test with the aim
of proceeding to abortion when the results show
abnormal findings. These persons would incur
the penalty of excommunication if they have
facilitated or assisted in the abortion. (Cfr. Code
of Canon Law, can. 1329, par. 2 in relation to can.
1398). (4)