Chromosome abnormalities evaluated with Panorama:

Other abnormalities: Five Microdeletion

Other abnormalities: 22q11.2 Deletion Syndrome

The purpose of the PanoramaTM Prenatal Microdeletion Panel is to screen the fetus for the microdeletion syndromes listed in the table below. Your health care provider will determine if this test is appropriate for you and can provide you with more details about the microdeletion syndromes screened with this test. . The Five Microdeletion Panel is only available for singleton (one baby) pregnancies where there is no egg donor or surrogate. It is not available for twins or pregnancies achieved with an egg donor or surrogate. For monozygotic twins only, 22q11.2 deletion may be ordered

1p36 deletion syndrome

This syndrome is caused by a small missing piece of chromosome 1 and is also called Monosomy 1p36. About 1 in every 5000 people has this condition. Children have moderate-to-severe intellectual disability. Most children have heart defects. Some children may need physical and occupational therapies to help with weak muscle tone. About half of children with Monosomy 1p36 have seizures and/or behavioral problems; some have hearing and/or vision loss

Cri du chat syndrome (5p-)

This syndrome is caused by a small missing piece of chromosome 5 and is also called 5p minus (5p-) syndrome. About 1 in every 20,000 babies is born with this condition. Babies are usually small at birth with a small brain and head size. They often have breathing and feeding problems. Children with cri du chat have severe intellectual disability.

Angelman Syndrome 15q11.2 deletion maternal

Angelman syndrome (AS) is caused by a small missing piece of chromosome number 15, or from inheriting two copies of chromosome 15 from one parent and none from the other; there are other rare causes as well. About 1 in every 12,000 babies is born with this condition. Babies often have feeding difficulties and weak muscle tone. Children have severe intellectual disability and motor problems; most have a small brain and head size and some have seizures. Most children do not develop speech.

Prader-Willi syndrome (15q11.2 deletion paternal)

Prader-Willi syndrome (PWS) is caused by a small missing piece of chromosome number 15, or from inheriting two copies of chromosome 15 from one parent and none from the other; there are other rare causes as well. About 1 in every 10,000 babies is born with this condition. Babies have weak muscle tone and feeding problems. Children with PWS typically have intellectual disability, behavior problems, and delayed motor and language development. They also have excessive appetites and may become obese and develop diabetes.

The purpose of the PanoramaTM Prenatal 22q Deletion Screen is to screen the fetus for 22q11.2 deletion syndrome. The Panorama Prenatal 22q Deletion Screen is performed in conjunction with the standard Panorama aneuploidy panel when requested on the requisition form. Your health care provider will determine if this test is appropriate for you and can provide you with more details about 22q11.2 deletion syndrome. The 22q Deletion screen is only available for singleton (one baby) pregnancies and monozygotic (identical) twin pregnancies. It is not available for pregnancies achieved with an egg donor or surrogate.

22q11.2 deletion syndrome (DiGeorge/Velocardiofacial syndrome)

22q11.2 deletion syndrome is usually caused by a small missing piece of chromosome 22. It is found in about 1 in 2000 newborns. Most children with this condition have mild-to-moderate intellectual disability and delayed speech and language. Many have heart defects, abnormalities involving the palate and/or immune system, and other health problems. Some people with this condition have autism spectrum disorder and some will develop psychiatric illnesses such as schizophrenia later in life.

Trisomy 21

This is caused by an extra copy of chromosome 21 and is also called Down syndrome. This is the most common genetic cause of intellectual disability and occurs in about 1 in every 830 live births1. Individuals with Down syndrome have an average IQ of 50 and all have some degree of intellectual disability. Some children with Down syndrome have defects of the heart or other organs that may require surgery or medical treatment. Some have other medical conditions including hearing or vision loss.

Trisomy 18

This is caused by an extra copy of chromosome 18 and is also called Edwards syndrome. Trisomy 18 occurs in about 1 in every 7500 live births and causes severe intellectual disability1. Some babies with Trisomy 18 have multiple severe birth defects of the brain, heart and other organs. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Babies who survive have profound intellectual disabilities and growth and development problems.

Trisomy 13

This is caused by an extra copy of chromosome 13 and is also called Patau syndrome. Trisomy 13 occurs in about 1 in every 22,700 live births and causes severe intellectual disability1. Most babies with trisomy 13 have multiple severe birth defects of the brain and other organs. Many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age.

Monosomy X

This is caused by a missing copy of the X chromosome and is also called Turner syndrome. This only affects girls and is found in every 1 in 5000 live births1, 2. Girls with Monosomy X are shorter than average. Some girls have heart or kidney defects, hearing problems, and some have learning disabilities. Girls with Monosomy X may benefit from growth hormone treatments in early childhood and usually need hormone replacement to enter puberty. As adults, they often have infertility.

Triploidy

This is caused by an extra copy of all chromosomes. Abnormalities are often present in both the placenta and the fetus. It is found in about 1 in 1000 first trimester pregnancies1; most babies with triploidy are miscarried or stillborn. Of those rare babies born alive, most die before one year of age. Mothers carrying a baby with triploidy can also experience various pregnancy complications such as pre-eclampsia, severe nausea, excessive bleeding, and rarely persistent placental disease.

10 May 2022

Abnormalities evaluated with Panorama

The Panorama™ Prenatal Screen is a non-invasive prenatal test used to screen the fetus for the chromosome abnormalities listed in the table below.

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