Microdeletions are chromosomal abnormalities characterized by the loss of a small piece of genetic material from a chromosome. In the context of NIPT, microdeletions refer to the detection of certain specific microdeletion syndromes during prenatal screening. These syndromes involve the absence of a small segment of genetic material, typically ranging from a few kilobases to several megabases. Our comprehensive NIPT screens for a range of chromosomal abnormalities, including certain microdeletion syndromes. Some of the common microdeletion syndromes that may be screened by NIPT include:

1p36 Deletion Syndrome

This genetic syndrome is characterized by birth defects, intellectual disability, and other serious medical issues. 1p36 deletion syndrome is caused by a deletion in the region of 1p36. Key features include characteristic craniofacial features, intellectual disability, seizures, skeletal abnormalities, and brain and heart defects. Lifespan can be normal but varies depending on severity.

4p- Syndrome

Also known as Wolf-Hirschhorn syndrome, this rare genetic syndrome is characterized by birth defects, intellectual disability, and other serious medical problems. It is caused by a deletion in the region of 4p16.3. Key features include prenatal-onset growth deficiency, postnatal growth retardation, hypotonia, characteristic craniofacial features, intellectual disability, seizures, skeletal anomalies, congenital heart defects, hearing loss, urinary tract malformations, and structural brain abnormalities. Life expectancy varies.

5p- Syndrome (Cri-du-chat Syndrome)

This genetic syndrome is characterized by birth defects, intellectual disability, and other serious medical issues. It is caused by a deletion in the region of 5p15.2. Key features include significant intellectual disability, speech delay, a cat-like cry, dysmorphic features, microcephaly, and a 10% mortality rate in the first year.

Prader-Willi Syndrome (PWS)

Prader-Willi syndrome is a rare genetic condition that causes difficulty feeding and failure to thrive in infancy, with obesity, developmental delay, and other medical problems as the child grows older. NIPT can detect PWS caused by a deletion, which accounts for about 70% of cases.

Angelman Syndrome (AS)

Angelman syndrome is a rare genetic syndrome that includes intellectual disability and other serious medical problems. NIPT can detect AS caused by a deletion, which accounts for about 68% of cases.

22q11.2 Deletion Syndrome

This genetic syndrome is variable in presentation, with many reported features. Key features include intellectual disability, heart defects, palatal abnormalities, immune deficiency, and dysmorphic features. Lifespan is usually normal but can vary.