Update: December 2018 Most women know well what is
Down syndrome And during pregnancy, many will find out that
rarely, but there is another chromosomal disorder, called
Edwards syndrome. And many are worried how to find out how tall
risk of having a child with Edwards syndrome and how is it diagnosed
such a pathology during pregnancy?
Что такое Edwards syndrome?
Edwards syndrome — это генетическое заболевание,
characterized by duplication (trisomy) of the eighteenth chromosome and
manifested by a number of characteristic malformations of the fetus during
gestation, often resulting in the death of the child or his
disability. That is, a child instead of 46 chromosomes forms 47,
This extra chromosome gives another name for the disease – trisomy 18.
The syndrome was named after the researcher John Edwards, who
first described it in 1960.
Why Edwards Syndrome Occurs – Causes of Pathology
Even if the parents are healthy, and there is no such family history.
pathology, a child with chromosome 18 can be born to anyone
As you know, in every human cell is 46
chromosomes, and in female and male germ cells, chromosome 23 each,
which, when fertilized by the fertilization of the egg, also give
a total of 46 chromosomes. If we talk about Edwards syndrome, the reasons for it
appearances are unknown.
Currently, only that
Certain genetic mutations produce an extra 47th chromosome
(additional chromosome in the 18th pair of chromosomes, which such
not 2, but 3).
In 95% of all cases of Edwards syndrome in the cells
there is exactly the extra 18th chromosome (trisomy), however in 2%
there is only “lengthening” of the 18th chromosome (translocation), when
the total number of chromosomes remains normal and is 46.
In 3% of cases of Edwards syndrome, “mosaic trisomy” occurs,
when the extra 47th chromosome is found in the body
in all cells, but only a certain part of it. Clinically all 3
variants of Edwards syndrome occur almost equally, however
the first option may differ more severe
How often does this pathology occur?
Children with Edwards syndrome die in the intrauterine phase
development in approximately 60% of cases. Despite this, among
genetic diseases this syndrome in surviving babies
is quite common in frequency of occurrence
second only to Down syndrome. Prevalence of Edwards Syndrome
is 1 case for 3 – 8 thousand children.
It is believed that in girls this disease occurs 3 times
more often, and the risk of Edwards syndrome increases significantly if
pregnant woman 30 years or more.
Mortality in Edwards syndrome in the first year of life is
about 90%, with an average life expectancy with severe
the course of the disease in boys is 2-3 months, and girls – 10
months, and only a few survive the adult state. More often
children with Edwards syndrome die from choking, pneumonia,
cardiovascular failure or intestinal obstruction –
complications caused by congenital malformations.
How does the syndrome manifest in a child?
Signs of Edwards syndrome can be divided into several large
The first group includes symptoms characteristic of external
kind of baby:
- At birth, low body weight (about 2 100 – 2200
- Disproportionately small head
- Defects of the development of the upper or lower jaws (micrognathia)
- Distortion of the shape of the face and the formation of the wrong bite
- �“Wolf’s mouth” (cleft of the hard palate) or “cleft lip”
- Fingers clenched, in a fist arranged unevenly
- Low ears fit
- Webbed or full fusion of the lower fingers
- Congenital clubfoot
- Relatively small mouth gap (microstomy)
The second group can be attributed to signs of disruption
internal organs, motor and neuro-mental development:
- The presence of congenital heart defects, for example, open
oval opening, ventricular septal defect, open
ductus arteriosus, etc.
- The development of inguinal or umbilical hernia.
- Digestive organs: gastroeosophagic reflux disease,
violation of swallowing and sucking reflex, esophageal atresia
or anus, meckel’s diverticulum, violation of the location
- Central nervous system: neuropsychiatric delay
development, mental retardation, underdevelopment of the cerebellum,
corpus callosum, smoothing or atrophy of the brain convolutions.
- Genitourinary system: cryptorchidism, hypospadias in boys,
hypertrophy of the clitoris, the underdevelopment of the ovaries in girls, regardless
from the floor – horseshoe or segmented kidney, doubling
- Squint, scoliosis, muscle atrophy.
How to find out the pathology during pregnancy – diagnosis
Syndrome Patau, Edwards and other trisomies are best identified before
baby’s birth As a rule, prenatal diagnosis of this
syndrome is carried out in 2 stages:
- For a period of 11–13 weeks (screening, based on –
carrying out various biochemical analyzes in women).
- Determination of the karyotype of the fetus in pregnant women at risk.
At 11-13 weeks, the level of some
blood proteins: β – hCG (β – subunit of human chorionic hormone)
and plasma protein A associated with pregnancy. Then with
taking into account these data, the age of the pregnant woman is calculated
giving birth to a child with Edwards syndrome, and a risk group is being formed
Later in the risk group at a later date, the material is taken from
fetus for accurate diagnosis: at 8–12 weeks, this is a biopsy
chorionic villi, in 14–18 – amniocentesis (study of amniotic fluid),
after 20 weeks – cordocentesis (intrauterine blood sampling from
fetal umbilical cord with ultrasound control). After that, in the resulting material
determine the presence or absence of an additional 18th chromosome
using KF-PCR (quantitative fluorescent polymerase chain
If the pregnant woman did not pass the genetic screening examination, then
in the later stages of the preliminary diagnosis of the syndrome
Edwards is performed using ultrasound. Other indirect signs
based on which you can suspect Edwards syndrome for more
- The presence of abnormal development of bones and soft tissues of the head
(“Wolf mouth”, microcephaly, low landing ears,
�“Cleft lip”, etc.).
- Detection of cardiovascular defects,
genitourinary system, as well as the musculoskeletal system.
Diagnostic signs of the syndrome in a child
After the birth of the child basic diagnostic signs
The presence of Edwards syndrome are as follows:
- Microcephaly, low birth weight
- Presence of “cleft lip” or “cleft palate”
Signs of a characteristic dermatographic picture:
- underdeveloped distal flexion fold
- presence in 1/3 of cases of the transverse palmar sulcus
- arcs on the fingertips
- change in skin pattern of the palm: distal location
axial triradius and an increase in ridge counting.
Further diagnosis is also confirmed by determining
karyotype of the child by the method of KF-PCR.
Edwards syndrome на УЗИ – кисты сосудистых сплетений
In the early stages of Edwards syndrome on ultrasound, to suspect extremely
difficult, but at 12 weeks of gestation the characteristic
для него симптомы косвенного характера:
- Signs of delayed fetal development
- Bradycardia (decrease in fetal heart rate
- Omphalocele (presence of abdominal hernia)
- Lack of nasal nasal imaging
- In the umbilical cord one, not 2 arteries
Also on the ultrasound cysts of the choroid plexus can be detected,
representing a cavity containing liquid in them. Themselves
on their own, they do not pose a threat to health and disappear by the 26 week
gestational age However, such cysts very often accompany
various genetic diseases, for example, Edwards syndrome (in
In this case, cysts are found in 1/3 of the children suffering from this
pathology), therefore at detection of such cysts the doctor will send
a pregnant woman for an examination at genetic counseling.
Since children with Edwards syndrome rarely live to see a year,
first, treatment is aimed at correcting those malformations,
which are life threatening:
- restoration of the passage of food with intestinal atresia or anal
- feeding through the probe in the absence of swallowing and
- antibacterial and anti-inflammatory therapy for
With a relatively favorable course of the disease occurs
Correction of some anomalies and malformations: surgical
treatment of wolf mouth, heart defects, inguinal or umbilical
hernia, as well as symptomatic drug treatment (appointment
laxatives for constipation, “defoamers” for meteorism, etc.).
Children with Edwards syndrome are prone to diseases such as:
- otitis media
- kidney cancer (Wilms tumor)
- pulmonary hypertension
- high blood pressure
- frontal sinusitis
- urinary tract infection
Therefore, the treatment of patients with Edwards syndrome includes
timely diagnosis and treatment of these diseases.
Forecast for the child
In most cases, the prognosis is poor. Units children with
Edwards syndrome who live to adulthood have
serious mental disabilities and constantly require outsider
care and control. However, with appropriate classes they are able
respond to comfort, smile, eat food,
and interact with educators, acquiring various
skills and abilities.