Complications of pregnancy: congenital and acquired pathologies of the fetus

The most common complications of pregnancy are pathologies of fetal development. Deviations occur both as a result of exposure to external factors (smoking, toxic poisoning, taking medications) and for genetic reasons independent of the person.

COST OF SCREENING FOR FETAL PATHOLOGIES IN OUR CLINIC IN ST. PETERSBURG

Congenital pathologies of the fetus - trisomy

The content of the article

Such pathologies are common, but most embryos with chromosomal abnormalities die in utero as a result of spontaneous miscarriages. Trisomy is genetic in nature and occurs at the moment of conception.

To prevent the birth of babies with severe pathologies, couples planning to have a child are recommended to undergo karyotyping - the study of chromosome sets, which makes it possible to determine genetic compatibility and the possibility of having healthy offspring.

Karyotyping has 99% reliability, thanks to which you can find out in advance whether spouses have a predisposition to chromosomal mutations.

In the early stages, it is impossible to detect trisomy without special tests. For this purpose, perinatal screening is carried out - a series of tests that determine congenital anomalies of the fetus. The first screening is carried out at 11-13 weeks and includes ultrasound diagnostics and blood tests for hormones.

Screening is carried out voluntarily. But the procedure is strongly recommended for women at risk who:

• became pregnant over the age of 35;
• had frozen pregnancies;
• have been exposed to ionized or radiation exposure;
• work at chemical industry enterprises;
• have bad habits (smoking, drinking alcohol and drugs);
• unfavorable environmental conditions;
• The age of the child's father is over 50 years.

Ultrasound determines:

• position of the embryo in the uterus (exclusion of ectopic pregnancy);
• number of fetuses (singleton or multiple pregnancy);
• shape of limbs, skull, facial structure;
• heartbeat;
• the coccyx-parietal size is established (the height of the fetus from the coccyx to the crown);
• normal or pathological structure of the brain;
• collar space thickness:
• nasal bone size:
• maturity and functionality of the placenta.

Treatment

There are two options for craniosynostosis surgery:

1. Endoscopic repair of craniosynostosis. This minimally invasive procedure affects a small area and leaves small scars. After endoscopic repair of craniosynostosis, your child will need to wear a helmet for several months.
2. Open surgery to repair craniosynostosis. This classic surgical approach can be performed on a child of any age. It involves a larger incision plus the use of plates to hold the bones in place.

Parameters indicating fetal pathology

During a screening ultrasound, the gynecologist examines the fetal nuchal area and neck.

With chromosomal abnormalities, fluid accumulates in the collar area of ​​the fetus. For the same reason, the number of folds on the neck increases. Normally, the thickness of the collar zone should not exceed 2.7 mm at 13 weeks.

If the thickness exceeds the norm, the woman is additionally prescribed an ultrasound to examine the fetal nasal bone. With chromosomal disorders, the bone is much shorter than normal. However, this parameter is not 100% confirmation of the presence of the syndrome in the fetus.

Usually the first measurement is taken at 11 weeks. If hypoplasia (shortening) or aplasia (underdevelopment) of the nasal bone has been detected, a second measurement is taken at 13 weeks. The length of the nasal bone at 12 weeks is normally 2-4.2 mm, at 20 weeks - 5.7-8.3 mm.

The coccygeal-parietal size is also of great importance in diagnosing chromosomal disorders. This parameter is set for a period of 6-14 weeks. Later, the placenta forms, and the indicators will be somewhat distorted.

The accuracy of measurements depends largely on the qualifications of the ultrasound diagnostic specialist. The measurement is taken strictly along the sagittal line from the coccyx to the crown of the head in the absence of fetal motor activity. At week 9, CTE is 23 mm, at week 12 - 52 mm. If the indicator is slightly out of line, there is nothing to worry about. Exceeding the indicators indicates too intense growth of the fetus, and a deficiency indicates a possible chromosomal pathology.

Ultrasound diagnostics during perinatal screening is not 100% confirmation of developmental abnormalities in the fetus. It only identifies possible symptoms of abnormalities. If they are noticed, the woman is sent to the second stage of screening - a biochemical blood test to determine the biochemical markers of beta-hCG and plasma protein PAPP-A.

The analysis is carried out for up to 14 weeks, because later the indicators will not differ from usual. The norm is the PAPP-A indicator at the 8th week is 0.17-1.54 mU/ml, at the 12th week - 0.79-4.76, and at the 14th week does not exceed 8.54 mU/ml and does not fall below 1.47.

If the indicators are underestimated, this indicates Edwards disease, Down syndrome or Cornelia de Lange. Whey protein increases with high fetal weight, placenta previa and multiple pregnancies.

Screening allows you to identify possible pathologies of fetal development. If they are confirmed by several types of diagnostics, the woman will be asked to terminate the pregnancy.

Patau syndrome

Manifests itself on the extra 13th chromosome. A born baby has many external and internal pathologies and has a short life expectancy.

If there is a high risk of having a baby with Patau syndrome, material is taken from the pregnant woman for analysis using fluorescent polymerase chain reaction (taking chorionic villi, amniotic fluid, puncture of umbilical cord blood vessels).

If for some reason the first screening was not carried out, using ultrasound diagnostics it is possible to determine Patau syndrome at a later date. But in this case, when deciding to have an abortion, you will have to resort to surgical techniques.

It manifests itself as follows:

• polyhydramnios in the 3rd trimester;
• asymmetry of the cerebral hemispheres;
• small head size compared to the body;
• extra fingers and toes;
• the thickness of the collar zone is greater than normal;
• cardiopalmus;
• malformations of internal organs.

In most cases, women undergo an abortion because with Patau syndrome the baby is born deeply disabled, incapable of social adaptation and normal life. 95% of children die before one year of age.

Down syndrome

There are many chromosomal pathologies, but Down syndrome is the most common and recognizable. The pathology consists of an extra chromosome in the 21st pair. Using ultrasound, Down syndrome can be visualized at 11-13 weeks of pregnancy. Characteristic signs of the disease include:

• short tubular bones of the arms and legs;
• aplasia (absence) of the nasal bone;
• thickening of the collar zone more than 3 mm, the presence of cervical folds due to the accumulation of amniotic fluid;
• hypoplasia (underdevelopment) of the cerebellum;
• decrease in frontothalamic distance;
• increase in the angle between the ilia;
• disturbance of venous blood flow;
• enlarged bladder;
• tachycardia;
• intestinal obstruction;
• increased distance between the eyes;
• lag of the coccygeal-parietal size by 10%.

Ultrasound screening is 91% accurate. But there are exceptions, so gynecologists do not rush to conclusions without conducting additional diagnostics.

Even if an ultrasound did not reveal a nasal bone in the fetus, in 2% of cases the baby is born completely healthy. 5% of babies with impaired venous blood flow do not have Down syndrome.

The examination is carried out no later than 13 weeks. The final diagnosis is made only through a combination of genetic and ultrasound diagnostics.

Edwards syndrome

This is trisomy, in which an extra chromosome appears in the 18th pair. It ranks second in prevalence after Down syndrome. It occurs 3 times more often in girls than in boys.

Using ultrasound, pathology is detected no earlier than 12 weeks. On the ultrasound machine screen, the doctor sees the following fetal development disorders characteristic of Edwards syndrome:

• cleft lip or cleft palate;
• microcephaly (too small brain);
• low CTE indicators;
• decreased heart rate;
• abdominal hernia;
• aplasia of the nasal bone;
• absence of one artery in the umbilical cord;
• protrusion of the ileum;
• absence of anus or esophagus;
• underdevelopment of the cerebellum;
• hypoplasia of the corpus callosum;
• rachiocampsis;
• abnormal shape of the kidneys;
• double ureter;
• smoothing or absence of cerebral convolutions.

60% of babies with Edwards syndrome die before 1 year of age. Rarely do children with this pathology survive beyond 10 years of age. In addition to mental retardation, children have developmental defects of internal organs that are incompatible with life, requiring surgical intervention and long-term recovery.

In most cases, with complex confirmation of Edwards syndrome, the pregnant woman decides to have an abortion.

Shereshevsky-Turner syndrome

Occurs mainly in female fetuses. Consists of the absence or defect of the 45th or 46th X chromosome. In 99% of cases, a genetic anomaly ends in miscarriage during pregnancy.

In 80%, chromosomal pathology is transmitted from the father. The girl's reproductive system suffers the most with this genetic disease. Anomalies in the development of the body are also very pronounced.

The main indicators of Shereshevsky-Turner syndrome on ultrasound are the size of the coccygeal-parietal zone and the thickness of the nuchal space. The fetus with this pathology is much smaller in size than expected for the duration of pregnancy. At birth, such a baby is on average about 40 cm tall and weighs 2000-2500 grams.

The second characteristic feature is an increase in the thickness of the collar zone. Skin folds form on the back of the head behind the ears of the fetus, which at birth transform into a skin membrane stretched between the head and shoulders.

In the early stages, ultrasound can be used to see shortening of the metacarpal and metatarsal bones, absence or underdevelopment of the digital phalanges, and deformation of the wrist joints. The intervertebral discs are flattened, and there are curvatures of the spine.

At later stages, the fetus experiences cardiovascular pathologies - segmental narrowing of the aortic lumen, non-closure of the interventricular septum, non-closure of the anastomosis between the pulmonary artery and the aorta.

With Shereshevsky-Turner syndrome, the reproductive system is affected. The fetus has ovarian aplasia, an anomaly of the external genitalia. The nipples are widely spaced, the chest is barrel-shaped.

Children with Shereshevsky-Turner syndrome are better adapted to life than children with similar chromosomal abnormalities. They grow to adulthood, with a height of up to 150 cm. Sometimes mental and psychological development is not impaired, but a child with such a disease has many health problems; in adolescence he requires hormonal therapy and various aesthetic surgeries.

Polysomy on the X or Y chromosome

Polysomy on the X chromosome is when instead of a pair of X chromosomes there is a third extra X chromosome. It is impossible to see signs of pathology on an ultrasound, because external manifestations are noticeable only after the birth of the baby. The only thing that should alert you is an increase in the thickness of the collar zone, however, only a genetic study of the chorion and analysis of the amniotic fluid will show the exact picture.

Polysomy on the Y chromosome consists of an extra Y chromosome, so the pathology occurs mainly in boys. The only sign of pathology visible on ultrasound is thickening of the collar area.

Children with polysomy generally have a chance to be realized in life.

• Girls with trisomy X chromosome do not have pronounced disorders. They have speech impairments, are very tall, and have knots on their fingers. However, in the future they have a chance of giving birth to healthy offspring.
• The situation with boys is worse: they often exhibit imbecility (moderate mental retardation), aggressive and antisocial behavior, and schizophrenia.

Trisomy on the Y chromosome is expressed in a special body structure (wide pelvis, narrow shoulders, abdominal fat). Boys have a heavy lower jaw and a small sloping forehead.

In severe forms of the pathology, debility (profound impairment of mental activity) and aggressive behavior are noticeable. By constantly working with defectologists and teachers, the child’s chances of adapting to society increase.

Langer-Gideon syndrome

It consists of a violation of the 8th chromosome. Pathology leads to profound disability.

On an ultrasound, you can see maxillofacial anomalies: the baby is born with a long, wide nose, and his lower jaw is underdeveloped. There are growths on the cartilage, because of this the limbs develop unevenly, the spine is curved, the fingers are shortened and crooked.

Children with Langer-Gideon syndrome do not speak and have mental and mental retardation.

Apert syndrome

This is a rare mutation in the FGFR2 gene of chromosome 10, which impairs the formation of bone and connective tissue.

The following signs of Apert syndrome are noticeable on ultrasound:

• polyhydramnios in a pregnant woman;
• increasing the thickness of the collar space;
• deformation of the skull;
• vertebral anomaly;
• heart failure;
• large distance between the eyes;
• fusion of several fingers.

A newborn's face is flat and slightly concave. the facial bones are deformed, the eyes are bulging and located asymmetrically. The forehead is very large and does not correspond to the proportions of the face.

Cardiovascular pathology does not allow a child to lead a full life.

Beckwith-Wiedemann syndrome

The disease is caused by a gene mutation on chromosome 11. When the disease occurs, the psyche and mental development do not suffer, but the child has many physical ailments.

On ultrasound, the pathology is expressed primarily in an increase in the weight of the fetus, the weight of which significantly exceeds the average. In this case, the fetus has disproportionately long limbs.

At later stages, an increase in the spleen, liver, kidneys and pancreas is noted. Babies with Beckwith-Wiedemann syndrome have an enlarged tongue, because of this, deformation of the jaw bones can be seen on ultrasound. With this pathology, the kidneys develop abnormally and contain calcium deposits.

Children with these diseases rarely survive to the age of 10, because they are prone to cancer, from which they die.

Williams syndrome

The mutation occurs on chromosome 7. The pathology is characterized by hypercalcemia - increased blood sugar levels. The fruit has a small weight that does not correspond to the timing.

In the early stages, it is difficult to notice the pathology, but then ultrasound shows skeletal imbalances associated with insufficient elastin formation. The baby also has a facial deformity: a bulging forehead, a short nose, and low-set eyes. Children with Williams syndrome have an “Elf face”; it is difficult for them to chew food and it is difficult for them to move due to deformation of the joints.

Babies are hypersensitive to sounds, have pronounced musical abilities, and love to sing and listen to music. At the same time, it is difficult for them to master precise disciplines, they are susceptible to anxiety disorders, they produce little melatonin, and such children sleep little.

What is Apert syndrome?

Apert syndrome ( Apert syndrome or acrocephalosyndactyly type 1 ) is a rare genetic disorder that occurs at birth. Patients with Apert syndrome develop characteristic malformations of the skull, face, arms and legs.

Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between the bones of the skull close prematurely. This can cause damage to the facial bones and cause the top of the head to appear pointy. With the disease, fusion of the fingers or toes may occur. Affected children may also have intellectual disabilities. The severity of symptoms varies.

Apert syndrome is almost always the result of new genetic changes (mutations) that occur randomly. Rarely, the disease is inherited in an autosomal dominant manner. Patients with the syndrome may undergo therapy aimed at specific symptoms, including reconstructive surgery of the skull, face, arms, legs.

Acquired fetal pathologies

Acquired pathologies arise under the influence of negative factors (radiation, toxic poisoning) and the mother’s lifestyle (alcoholism, smoking, drug addiction).

Congenital defects of organs and bones

Rarely does a fetus develop one such defect; usually it is a complex of pathologies affecting several vital organs.

Congenital defects have the following types:

• aplasia - complete absence of an organ with preservation of the vascular pedicle;
• agenesis - complete absence of an organ without preservation of the vascular pedicle;
• hypoplasia - underdevelopment of an organ;
• Dystopia - placement of an organ in the wrong place.

Ultrasound diagnosis of congenital defects is carried out three times:

• 1st diagnosis - 10-13 weeks;
• 2nd diagnosis - 19-20 weeks;
• 3rd diagnosis - 31-32 weeks.

The study allows us to identify most pathologies:

• absence or deformation of an organ;
• anencephaly (absence of the brain);
• atresia (absence) of limbs;
• anomaly of the facial skeleton (cleft lip, cleft palate);
• non-closure of the spinal canal;
• heart defects;
• hydrocephalus (fluid accumulation in the brain).

Hypertensive-hydrocephalic syndrome

This is a pathology in which cerebrospinal fluid accumulates under the meninges. The complication is detected by ultrasound in the late stages of pregnancy.

It is characterized by a large volume of the fetal head, disproportion between the cerebral lobes, and protruding fontanel. The earlier the pathology is detected, the greater the chances of a favorable outcome.

Hydrocephalus

This is the accumulation of cerebrospinal fluid in the ventricles of the brain, as a result of which they increase in size and intracranial pressure increases.

Hydrocephalus is detected in the 2nd semester of pregnancy. The main indicator is an increase in the height of the body of the cerebral ventricle above normal (over 1.1 cm). At the same time, the echogenicity of the interhemispheric fissure decreases while the width of the fissure increases over 5 mm.

Heart defects

Heart defects in the fetus are not uncommon. They are detected on ultrasound during the 2nd routine examination (screening ultrasound of the second trimester).

These include:

• hypoplasia of the left side of the heart;
• lack of communication between the right chambers of the heart;
• absence of one of the ventricles of the heart;
• pathology of the heart muscle;
• arrhythmia;
• bradycardia;
• narrowing of the aortic lumen;
• narrowing of the pulmonary artery;
• tricuspid valve defect;
• tetralogy of Fallot (combined cardiac anomaly).

Most heart pathologies are corrected surgically. The earlier the surgery is performed, the greater the chances of a successful recovery.

Forecast

The prognosis for children with Apert syndrome depends on how severe the condition is and which body systems are affected. The condition can be more serious if it affects the baby's respiratory system or if pressure builds up inside the skull, but these problems can be corrected with surgery.

Children with the syndrome often have learning problems. Some children are more seriously affected than others.

Because the severity of the disease can vary widely, life expectancy is difficult to predict. The disease may not have a significant impact on the child's life expectancy, especially if he does not have heart defects.

Fetal pathologies caused by alcohol addiction in a pregnant woman

The most common pathology caused by alcohol consumption by a pregnant woman is Miller-Dieker syndrome. The mutation occurs in a gene on chromosome 17. The main cause of the anomaly is intoxication of the fetus with aldehydes transmitted through maternal blood.

On ultrasound, Miller-Dieker syndrome is expressed in polyhydramnios, intrauterine development retardation of the fetus and a decrease in its motor activity. At later stages, you can see a thickening of the cerebral cortex as the cerebral convolutions smooth out.

The head of sick children is smaller than the required size, the forehead is convex, the back of the head is flat, the jaw is underdeveloped (alcohol dysmorphia). The ears are located below the required level, the fingers are irregularly shaped, the hip joints are at a rudimentary level, the feet are shortened, and the anus is fused.

These children usually die by age 2 years due to aspiration pneumonia. They have profound mental retardation and even lack normal reflexes (swallowing, blinking).

Where it all started

In the orphanage, where Grisha lived from the first days of his life, no one believed that he would be taken into the family - the pupil had too many serious illnesses.

Nele Uchakina is 44 years old. She and her husband raised two sons - one is 26, the second is 20 years old. As she herself says, the time has come to live for pleasure - the children are big, there are no grandchildren yet. But fate, apparently, decided that a quiet life was not for Nelya, and gave her a meeting with Grisha.

“The youngest son studied at medical college and did an internship at a children's hospice. There he saw Grisha. He came home and talked about a baby with fused arms and legs. At that moment something struck me. Believe it or not, I already realized then that I had to be close to this child. Although I didn’t even see Grisha then. I never had any thoughts of taking custody of a child, but here was some kind of signal from above: he is yours, go to him, he needs you,” recalls Nelya Uchakina.

“The signal about Grisha came from above”

Nelya remembers her first meeting with Grisha on December 2, 2013 in detail. She says that when she looked at the thin one-and-a-half-year-old boy with fused limbs and a non-standard skull shape, she felt neither pity nor disgust.

Prevention

Due to the fact that the anomaly is hereditary, only genetic counseling at the stage of pregnancy planning can be identified as prevention methods.

Apert syndrome is a genetic abnormality and has a whole list of unpleasant symptoms. Despite the fact that the disease requires surgical treatment, some clinical cases end in death. At the stage of pregnancy planning, the expectant mother needs to visit a specialist in genetic disorders.

Symptoms

Most clinical manifestations become noticeable at birth. This is due to the fact that they develop while the fetus is in the mother’s womb. The main signs of pathology include:

1. Deformation of the cranial bones (“tower” skull, elongated upward, widely spaced and slightly bulging eyes, malocclusion with a strongly protruding upper jaw, wide nose);
2. Fusion of the digital phalanges on the extremities - most often, fingers I, II, III are fused by means of the formation of a skin membrane between them or, often, true fusion;
3. There are additional fingers on the hands and feet;
4. Mental retardation, mental retardation, observed in 100% of patients;
5. Optic nerve atrophy, sometimes causing absolute blindness;
6. Stable intracranial hypertension occurs due to premature reduction of the sutures of the cranial bones. Accompanied by nausea, dizziness, vomiting;
7. Against the background of an underdeveloped upper jaw, breathing problems develop;
8. Emotional instability (incontinence, impulsiveness, aggression).

Possible complications and prognosis

The likelihood of complications developing in the absence of surgical treatment is high. The most likely ones include:

• development of dementia;
• decreased vision and hearing;
• diseases of the spine and joints;
• pathologies of the cardiovascular, excretory and other systems.

The prognosis in the absence of surgery is unfavorable, with the exception of those patients who lived to middle age without having any malformations of the cardiovascular system.

In the case of timely surgical interventions and a mild degree of development of the pathology, the patient can live to old age, provided that the gene mutation does not lead to heart defects and severe pathologies of internal organs.

Diagnosis of the disease

To make a diagnosis, the following measures are required:

1. The doctor must analyze the patient's complaints, as well as the medical history. It is necessary to find out whether there were cases of the development of such pathology in the family;
2. Neurological examination to assess the shape of the skull and the intellectual development of the patient (special questionnaires, as well as conversation);
3. Examination of the fundus to identify the presence of symptoms of increased intracranial pressure (swelling of the optic disc, as well as blurring of its edges);
4. To assess the condition of the skull, radiography is performed;
5. Computer and magnetic resonance imaging of the head to examine the structure of the brain with the skull layer by layer, to determine the presence of symptoms of premature fusion of cranial sutures, and in addition hydrocephalus (due to increased intracranial pressure, excess cerebrospinal fluid accumulates (this is cerebrospinal fluid, which contributes to the metabolic process substances, as well as brain nutrition));
6. X-ray of the feet with the hands to find out the reason why the fingers fused (this is important for planning subsequent surgical intervention);
7. A consultation with a medical geneticist, as well as a neurosurgeon, may be scheduled.