Families of children with birth defects often wonder why their child was born with such a defect. And will their future children have the same defect? Abnormalities in genetic material can be passed from parent to child.

Down syndrome affects everyone in their own way, so there is no one-size-fits-all treatment for babies with Down syndrome. But the earlier they receive medical care, the more likely they are to live to their full potential.

Duchenne muscular dystrophy is an X-linked genetic disorder, so it affects males primarily. Females can inherit the Duchenne muscular dystrophy gene but never develop the disease.

Detecting fetal chromosomal abnormalities is very important during pregnancy. Therefore, performing prenatal diagnostic tests to detect genetic diseases will help make screening more effective. Among them, FISH testing is one of the very important tests.

Fetal malformations are defects in the body that the baby has while still in the womb, sometimes only becoming apparent after birth. Nowadays, thanks to the development of medicine, parents can detect fetal malformations in the womb through prenatal diagnostic tests, including the QF-PCR test.

Chromosome testing helps detect abnormalities of human chromosomes that cause a number of dangerous diseases. This is a modern paraclinical test, helping to diagnose diseases related to genetics, congenital malformations or find the cause of infertility in couples.

Epidermolysis bullosa is the general name for a group of rare genetic disorders. The common characteristic of this group of diseases is the appearance of blisters on the skin or mucous membranes after minor trauma. Different types of the disease will have different levels of severity and symptoms of epidermolysis bullosa.

Cri du chat syndrome is a rare genetic disorder in which part of the short arm of chromosome 5 is missing. Cri du chat syndrome is also known by several names: Cry of the Cat Syndrome; 5p- Syndrome; CdCS Syndrome; Lejeune Syndrome.

Muscular dystrophy syndromes comprise a group of disorders that cause progressive muscle weakness and eventually muscle atrophy. People with muscular dystrophy have abnormal genes that prevent the production of proteins needed for healthy muscles. There are several types of muscular dystrophy syndromes, with the most common type of progressive muscular dystrophy showing symptoms in childhood and more common in boys. The other types of muscular dystrophy do not appear until adulthood.

Allan-Herndon-Dudley syndrome is a rare disorder of brain development that results in intellectual disability and movement difficulties. It is a rare syndrome that occurs in the fetus and is more common in males than females. There are approximately 25 families with Allan-Herndon-Dudley syndrome reported worldwide.

Monosomy 10p is a rare chromosomal disorder that causes severe intellectual disability, cranial malformations, postnatal developmental delays, and congenital heart defects. What are the symptoms and causes of the disease? Is there a treatment?