Diseases detected in the womb – clefts, hydrocephalus, heart defects. Diagnostics and prenatal tests indicated

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Good prenatal care helps you maintain a healthy pregnancy and make informed decisions. It includes regular visits to the doctor and tests. There are many types of maternal and fetal prenatal screening. Some are performed routinely, while others are outsourced only on specific occasions. Check what diseases can already be detected in the womb.

Diseases detected in the womb – cleft lip or palate

These are birth defects that occur when a fetal lip or mouth does not develop properly. The exact cause is difficult to establish. However, research has shown that genetic and environmental factors have a big influence on this.

The palate is formed between the sixth and ninth week of pregnancy. A cleft occurs when the tissue that forms the palate does not fully connect during pregnancy. For some babies, the front and back of the palate remain open. Sometimes only the back part is open.

Symptoms of cleft lip and palate

The cleft can be mild (cut on the upper lip) or serious (involving the lip, base of the nose, and dental arch). Speech development is influenced not only by the structure of the lip and palate, but also by the side effects of middle ear infections.

Babies with a cleft palate may need help with feeding. They have problems with sucking, so they should be fed with a special bottle while seated.

Diagnosing cleft lip and palate

Orofacial clefts can be diagnosed in a fetus with routine ultrasound. They can also be detected after the baby is born, especially in the case of a cleft palate. Some malformations do not show up until later.

1. Read more on the types, causes, and treatments for cleft lip

Diseases detected in the womb – fetal hydrocephalus

Hydrocephalus, or “water in the brain,” is a condition related to the build-up of cerebrospinal fluid in or around the brain. If left untreated, it can lead to stretching of the brain tissue, which significantly affects the growth and development of a child.

It is often congenital, which means your little one can be born with it. Sometimes it also develops in babies and children. There is no one specific cause. It may be associated with a genetic defect or other disorder, such as spina bifida.

Diagnosing fetal hydrocephalus

Hydrocephalus is usually detected with prenatal ultrasound between 15 and 35 weeks of pregnancy. Fetal MRI scans can confirm this diagnosis. Provide more detailed images of the brain.

The effect of hydrocephalus on a newborn baby is somewhat unpredictable. It can be of varying severity. It damages the brain, which is why children with hydrocephalus sometimes suffer from epilepsy, learning disabilities, and short-term memory loss. They may have trouble seeing and concentrating.

1. Also read: Infectious diseases of the mother during pregnancy, disturbing the development of the fetus

Diseases detected in the womb – congenital heart defects

They occur in about 1 in 110 births. They have many causes, including genetic abnormalities or abnormalities during the development of the fetus. Some may be so mild that there are no obvious symptoms.

The detection of an abnormal heartbeat sound called a murmur during the test signals this problem.

Diseases detected in the womb – Down syndrome

A person with Down’s syndrome has an extra chromosome. It generally has distinctive physical features, including slanted eyes, small ears, a short neck, a small mouth, a small nose with a flattened back, and small hands with short fingers. Many children have problems with their eyesight or hearing.

How is Down syndrome diagnosed?

There are two basic types of fetal Down’s syndrome detection tests: screening and diagnostic tests.

One of the screening tests is ultrasound. It helps to determine your baby’s risk of Down’s syndrome. If the result is positive, your doctor should order diagnostic tests. Include:

1. chorionic villus sampling: material tested from the placenta,
2. amniocentesis: examines the amniotic fluid (fluid from the bag surrounding the baby)
3. percutaneous umbilical cord blood sampling: a blood test from the umbilical cord.

They look for changes in the chromosomes that indicate Down syndrome.

1. Find out more about Down’s Syndrome

Diseases detected in the womb – Turner syndrome

It is a chromosomal disease that leads to abnormal development in women. They are usually shorter and unable to conceive for a baby due to a lack of ovarian function. Other symptoms are an individual matter. Include:

1. extra skin on the neck,
2. lymphoedema of the hands and feet,
3. bone disorders,
4. heart defects,
5. kidney problems.

Turner syndrome is associated with the complete or partial absence of one of the X chromosomes.

How is Turner syndrome diagnosed?

The two main clinical features of Turner syndrome are short stature and no ovarian development. It can be suspected during pregnancy during ultrasound examination. Most often, a doctor will confirm the diagnosis by ordering prenatal tests, such as chorionic villus sampling or amniocentesis. Your baby will be looked after by a specialist immediately after birth.

1. Read more about Turner Syndrome

Diseases detected in the womb – Edwards syndrome

Edward’s syndrome, also known as chromosome 18 trisomy, is a rare but serious genetic disease. It causes a number of serious health problems. Unfortunately, most sick babies will die before or shortly after birth. Sometimes they live for more than a year, but may have severe physical and mental disabilities. The most common symptoms include:

1. low weight after birth,
2. a small, improperly shaped head,
3. a small jaw and a small mouth,
4. low set ears,
5. long fingers that overlap, poorly developed thumbs and clenched fists,
6. smooth feet with rounded soles,
7. cleft lip and palate.

How is Edwards syndrome diagnosed?

Screening tests for Edwards’ syndrome between 10 and 14 weeks of pregnancy are offered to expectant mothers. They can be combined with testing for Down’s syndrome and Patau’s syndrome. If the result is positive, perform a diagnostic test. It will allow you to determine if the child is really sick.

1. Find out more about the Edwards team