ultrasound diagnosis of fatal anomalies

CHROMOSOMAL DISORDERS
1
2
3
4
5
femur, unusual facial syndrome, hypochondroplasia,
thorax dysplasia Jeune, spondyloepiphyseal
dysplasia, Turner syndrome.
Clinical management: Karyotyping, as well as
further ultrasound screening, including fetal
echocardiography. The option of terminating the
pregnancy may be discussed with the parents,
depending on their religious and ethical views. If
the parents are willing to accept a child with
Down syndrome, then the pregnancy should be
managed as a high-risk pregnancy, to avoid secondary
complications. The prognosis depends
on the extent of the cardiac lesion. The severity
of mental impairment is not predictable at the
prenatal stage. Duodenal atresia can cause hydramnios
and lead to premature labor. Fetal
monitoring during labor is carried out, and obstetric
measures taken as necessary. It is advisable
to deliver the mother in a perinatal center
where a pediatrician can be present at the time
of birth. He or she should be informed of the
anomalies to be expected, as diagnosed with ultrasound
screening.
Procedure after birth: Therapeutic measures are
needed soon after birth. Surgical intervention is
needed earliest for intestinal anomalies. Cardiac
lesions rarely cause symptoms requiring surgical
treatment in the immediate neonatal stage.
Prognosis: Cardiac anomalies are mainly responsible
for the high rate of neonatal mortality.
The rate of mortality remains there after relatively
stable until 40 years, and increases rapidly
due to premature ageing. The intelligence
quotient lies between 50 and 80 in childhood,
but decreases as the patient gets older.
Recommendation for the mother: In sporadic
cases, the recurrence risk lies 1% above the risk
for the maternal age, but for translocation
trisomy 21, the risk is considerably higher.
Genetic counseling is recommended. In the subsequent
pregnancy, diagnosis of trisomy can be
excluded at 11 to 12 weeks by chorionic villus
sampling. Using nuchal translucency measurements
(11–13 weeks), an effective screening program
can also be offered to younger women.
However, diagnosis of Down syndrome with absolute
certainty is only possible using invasive
prenatal diagnostic procedures. Self-help organizations
provide very good support for the affected
parents.
Self-Help Organization
Title: National Down Syndrome Congress
Description: Support, information and advocacy
for families affected by Down syndrome.
Promotes research and public awareness.
Serves as a clearing-house and network for
parent groups. Newsletter ($25/y). Annual
convention, phone support, chapter development
guidelines.
Scope: National
Number of groups: 600 + parent group networks
Founded: 1974
Address: 7000 Peachtree-Dunwoody Rd.,
Atlanta, GA 30328, United States
Telephone: 1–800–232-NDSC or 770–604–
9500
Fax: 770–604–9898
E-mail: NDSCcenter@aol.com
Web: http://www.NDSCcenter.org
References
ACOG Practice Bulletin. Clinical management guidelines
for obstetrician-gynecologists: prenatal diagnosis of
fetal chromosomal abnormalities. Obstet Gynecol
2001; 97: 1–12.
Gekas J, Gondry J, Mazur S, Cesbron P, Thepot F. Informed
consent to serum screening for Down syndrome:
are women given adequate information. Prenat
Diagn 1999; 19: 1–7.
Graupe MH, Naylor CS, Greene NH, Carlson DE, Platt L.
Trisomy 21: second-trimester ultrasound. Clin Perinatol
2001; 28: 303–19.
Jenderny J, Schmidt W, Hecher K, et al. Increased nuchal
translucency, hydrops fetalis or hygroma colli: a new
test strategy for early fetal aneuploidy detection.
Fetal Diagn Ther 2001; 16: 211–4.
Lai FM, Woo BH, Tan KH, et al. Birth prevalence of Down
syndrome in Singapore from 1993 to 1998. Singapore
Med J 2002; 43: 70–6.
Nyberg DA. Ultrasound markers of fetal Down syndrome.
JAMA 2001; 285: 2856.
Rosati P, Guariglia L. Early transvaginal measurement of
cephalic index for the detection of Down syndrome
fetuses. Fetal Diagn Ther 1999; 14: 38–40.
Souter VL, Nyberg DA, El-Bastawissi A, Zebelman A,
Luthhardt F, Luthy DA. Correlation of ultrasound
findings and biochemical markers in the second
trimester of pregnancy in fetuses with trisomy
21. Prenat Diagn 2002; 22: 175–82.
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