Hereditary metabolic diseases and pregnancy

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Hereditary metabolic diseases and pregnancy
The
existing
diagnostic
possibilities
and
the
effective treatment for some variants of hereditary
metabolic diseases have favored the detection of a
large
adult
female
population
carrying
such
diseases. There is an important relation between
several
hereditary
metabolic
diseases
and
the
desire of getting pregnant that should be taken
into account during prenatal and perinatal care.
This
article
reviewed
the
hereditary
metabolic
diseases and their effects on the pregnancy and the
outcome.
It
prenatal
also
underlined
echographic
the
possibility
diagnosis
of
of
fetal
malformations that gives rise to suspicion about
the
diagnosis
in
this
period
as
well
as
the
possible treatment of some of these diseases in the
prenatal stage. The article draws attention to the
serious
complications
that
some
hereditary
metabolic diseases of the fetus may bring about
during pregnancy and puerperium (HELLP syndrome).
It was suggested that women with certain hereditary
metabolic
diseases
like
homocystinuria
and
phenylketonuria be advised of the increased risk of
complications in pregnancy and of the intrauterine
fetal
damage
caused
by
this
disease.
Special
importance was given to phenylketonuria in which a
restrictive
dietary
pregnancy
can
treatment
prevent
before
the
and
during
characteristic
embryofetopathy of this entity.
Subject
headings:
HEREDITARY
DISEASES/diagnosis;
HOMOCYSTINURIA/diagnosis;
MATERNAL/diagnosis;
PREGNANCY
PERINATAL CARE; PRENATAL CARE.
PHENYLKETONURIA,
COMPLICATIONS;
PERINATAL
AND
MATERNAL
RESULTS
OF
PREGNANCY
AT
OLDER MATERNAL AGE.
In
“Julio
Alfonso
Medina”
gynecological
and
obstetric hospital in Matanzas province, a research
study was carried out on pregnant women aged 35
years and older aimed at assessing the perinatal
and maternal results from older pregnant women. The
sample was made up of 389 females, that is, the
total number of women who gave birth in this age
group
in
the
above-mentioned
institution
during
1999 and 2000, accounting for 6,2% of the total
births in this period. Data were taken from the
register
book,
which
allows
characterizing
the
sample according to the existence or absence of
diseases, gestational age and the birthweight of
the
newborn.
average
Figures
values
and
were
given
standard
as
percentages;
deviation
were
estimated. The results indicated that pregnancy at
older age over 35 years adversely affect perinatal
and maternal indicators of mortality and morbidity.
The only maternal death occurred in this age group
Subject
headings:
PREGNANCY
MORTALITY;
MATERNAL
COMPLICATIONS;
INFANT
AGE
RISK
MORTALITY;
35
AND
FACTORS;
OVER;
MATERNAL
INDICATORS
OF
MORBIDITY AND MORTALITY; GESTATIONAL AGE; NATURAL
CHILDBIRTH; CESAREAN SECTION.
EPIDEMIOLOGY OF THE PREMATURE RUPTURE OF MEMBRANES
IN A GYNECOLOGICAL AND OBSTETRIC HOSPITAL.
A retrospective cohort study of the risk factors
for the premature rupture of membranes and of the
events of pregnancy, labor, newborn and puerperium
was
conducted
gynecological
1998
to
in
and
March
“América
obstetric
1999.
The
Arias”
hospital
general
teaching
from
March
frequency
of
premature rupture of membranes was 17,2%. Of the
risk
factors
statistical
studied,
there
association
with
was
a
significant
non-Caucasians.
In
pregnancy, there was statistical association with
urinary tract sepsis and multiple pregnancy. The
premature rupture of membranes was related to fever
during
labor,
cesarean
induced
section.
It
labor,
is
fetal
necessary
distress
to
and
increase
efforts to detect and treat urinary sepsis since
this problem poses the major attributable risk as
well as those factors associated with the premature
rupture
of
membranes
so
as
to
reduce
induction
rates, preterm delivery and admission of newborns
to the neonatal intensive care unit.
Subject
headings:
FETAL
MEMBRANES;
PREMATURE
RUPTURE; RISK FACTORS; URINARY TRACT INFECTIONS;
EPIDEMIOLOGIC STUDIES.
CHARACTERIZATION OF THE MOTHER OF THE INTRAUTERINE
RETARDED GROWTH NEWBORN.
A retrospective historical cohort study of 3 385
births occurred at “América Arias” hospital from
July
1998
to
August
1999
was
performed.
Intrauterine growth retardation was present in 188
newborns, which represented an incidence of 5,6%.
The
risk
factors
analyzed
before
pregnancy
were
height, initial weight, parity, age, non-Caucasian,
previous
smoking.
abortions,
The
factors
chronic
hypertension
inherent
to
and
pregnancy
were
urinary sepsis, multiple pregnancy, gestorrhagia,
hemoglobin
square
and
test
Statistical
preeclampsia.
and
Relative
attributable
association
was
risk
found
risk,
were
with
Chi
used.
initial
maternal weight under 50 kg, chronic hypertension,
non-Caucasian, number of previous abortions (2 or
3)
and
also
with
multiple
pregnancy
and
preeclampsia. It is important to control chronic
hypertension
during
pregnancy
and
in
multiple
pregnancy as well as to early detect preeclampsia
in order to reduce the frequency of intrauterine
growth retardation.
Subject
headings:
FETAL
GROWTH
RETARDATION/prevention and control; RISK FACTORS;
HYPERTENSION; INFANT, LOW BIRTH WEIGHT.
HYPERTENSIVE DISEASE IN PREGNANCY AND ITS INFLUENCE
ON
SOME
PERINATAL
INDICATORS
OF
MORTALITY
AND
MORBIDITY.
An analytical and descriptive study was performed
on patients with gravidic hypertension, classified
according to the criteria of the American College
of Obstetrics and Gynecology, from January 1998 to
December,
2000
in
“Julio
R.
Alfonso
Medina”
teaching gynecological and obstetric hospital in
Matanzas province. The sample was made up of 956
females from a universe of 1 021, which represented
an incidence of 9,5%. Primary data were taken from
the
medical
Variables
while
histories
were
processed
summarized
predominant
and
the
by
measures
number
of
register
statistical
were
patients
books.
methods
estimated.
with
high
A
blood
pressure in pregnancy managed to reach full term
pregnancy; this entity had no relation with the
occurrence of preterm gestation in this study. The
weight of newborns from hypertensive patients were
within the weight parameters of over 2 500g in most
of cases, but also a substantial number of them had
low
birthweight
and
intrauterine
growth
retardation. Apgar score was not affected in the
sample by patients with gestational hypertension.
There
was
no
linking
pregnancy
and
a
neonatal
deaths
between
significant
reflected
hypertension
number
in
the
of
in
fetal
or
statistical
figures of the study.
Subject
headings:
HYPERTENSION/epidemiology;
PREGNANCY
COMPLICATIONS;
CARDIOVASCULAR,
RISK
FACTORS; INFANT MORTALITY; INDICATORS OF MORBIDITY
AND MORTALITY.
COSTS
AND
BENEFITS
OF
THE
MULTIPLE
PREGNANCY
HOSPITALIZATION.
A
prospective
pregnancies
descriptive
that
occurred
study
in
of
the
the
year
multiple
2000
in
“Julio R. Alfonso Medina” teaching gynecological
and
obstetric
hospital
in
Matanzas
province
was
made. The total number of births was 3 022 that
year and the sample was made up of 34 patients with
multiple pregnancy. Incidence rate was 1,12% broken
down in 33 twin deliveries (1,09%) and one triplet
(0,03%). All deliveries were institutionalized. The
cost of hospitalization corresponding to this type
of pregnancy was estimated up to 29 days and 30
days and over; also the cost by type of delivery
and the cost of the most used drugs, antibiotics
and antimicrobials were calculated. The diseases or
nosologic entities found in multiple pregnancies
are
listed.
Primary
tailored-made
data
register
were
book
collected
and
from
results
a
were
expressed as percentages.
Subject
LENGTH
headings:
OF
MULTIPLE/economics;
HOSPITALIZATION
STAY/economics;
DELIVERY
/economics;
PREGNANCY,
/economics;
BENEFIT ANALYSIS; HEALTH CARE COSTS.
COST-
USE
OF
g
OF
is
similar
800
MISOPROSTOL
TO
INDUCE
EARLY
ABORTION.
Misoprostol
to
prostaglandins
uterotonic properties. A group of
with
gestational
time
g
doses of 800
under
70
with
141 patients
days
received
3
of Misoprostol every 48 hours.
Failure was defined by the need of performing a
surgical
removal
abortion
of
the
and
success
outcome.
by
the
Generally
complete
speaking,
132
cases (93,6%) had normal abortion, 9 cases failed
for
6,4%.
The
statistically
decrease
in
significant
hemoglobin
(p=0,001)
rates
but
was
without
clinical impact, before treatment: 11,9 mg/dL with
standard deviation=1,19 and after treatment: 11,1
with
a
SD=1,20.
significant
failure
differences
rates
previous
There
in
were
among
relation
abortions,
race
to
or
no
statistically
success
rates
parity,
pregnancy,
age,
but
they
and
were
found in pregnancies over 9 weeks (p=0,01). The
third
dose
efficiency.
of
The
Misoprostol
benefits
that
showed
the
very
low
reduction
of
treatment time plus the use of more frequent doses
of this medicine, combined with different ways of
administration, might bring are under research.
Subject
headings:
MISOPROSTOL
ABORTION, INDUCED/methods.
/therapeutic
use;
ECONOMIC
IMPACT
OF
THE
IMPLEMENTATION
OF
ELECTROSURGERY IN A MATERNITY HOSPITAL
With the objective of evaluating the efficiency of
electrosurgery in the maternity hospital located in
Guanabacoa
municipality,
City
of
Havana,
a
prospective longitudinal and descriptive study was
made on the costs of the types of therapy used in
the cervix pathology Department from September 1996
to December 2000. Information was obtained from the
estimation
of
the
material
and
human
resources
costs and the indirect cost of every female patient
treated
with
either
conventional
surgery
or
electrosurgery. The latter reported a substantial
cost reduction, so it was recommended to extend the
use of this procedure to the centers in charge of
the cervix-uterine cancer program because of the
excellent economic results for the country. A high
foreign
currency
saving
was
also
obtained
when
loops that used to be employed in electrosurgery
were replaced by others obtained from innovative
methods. In this way, it was possible to maintain
electrosurgery service in the hospital.
Subject headings: ELECTROSURGERY/economics; CERVIX
NEOPLASMS/economics;
GYNECOLOGIC
SURGICAL
PROCEDURES/economics; COST-EFFICIENCY ANALYSIS.
Contents
Hereditary metabolic diseases and pregnancy
PERINATAL
AND
MATERNAL
RESULTS
OF
PREGNANCY
AT
OLDER MATERNAL AGE.
EPIDEMIOLOGY OF THE PREMATURE RUPTURE OF MEMBRANES
IN A GYNECOLOGICAL AND OBSTETRIC HOSPITAL.
CHARACTERIZATION OF THE MOTHER OF THE INTRAUTERINE
RETARDED GROWTH NEWBORN.
HYPERTENSIVE DISEASE IN PREGNANCY AND ITS INFLUENCE
ON
SOME
PERINATAL
INDICATORS
OF
MORTALITY
AND
MORBIDITY.
COSTS
AND
BENEFITS
OF
THE
MULTIPLE
PREGNANCY
HOSPITALIZATION.
USE
OF
800
g
OF
MISOPROSTOL
TO
INDUCE
EARLY
ABORTION.
ECONOMIC
IMPACT
OF
THE
IMPLEMENTATION
ELECTROSURGERY IN A MATERNITY HOSPITAL
OF
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