the important role of genetic screening · moe info carrier screening and noninvasive prenatal...

THE IMPORTANT ROLE OF GENETIC SCREENINGMaking the best decisions for you and your family

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Screening overview Carrier screeningGenetic screening Noninvasive prenatal screening

Noninvasive prenatal screeningChromosome conditions

Serum screeningHormone and protein levels associated with birth defects

UltrasoundAnatomical abnormalities

Carrier screeningInherited conditions

A VARIETY OF SCREENING METHODS ARE USED TO DETERMINE RISK DURING PREGNANCY

Complementary Screens During Pregnancy• Several different types of screening tests are offered during

pregnancy

• Each is performed with the goal of assessing for risks and complications in the pregnancy

• Some routine screening tests done during pregnancy include: carrier screening, noninvasive prenatal screening using cell-free DNA, ultrasound and maternal serum screening

• Screening tests are done at different points during pregnancy and for different purposes

Screening vs. Diagnostic Tests• Screening tests are different than diagnostic tests

• Screening tests do not give definitive answers. Instead, they provide information about whether there is an increased chance of a problem being present

• Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, are available to provide definitive information

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Carrier screening and noninvasive prenatal screening, two genetic screens done early on, can inform the care of your pregnancy and baby. Noninvasive prenatal screening can help avoid the need for invasive diagnostic tests (indicated by below).

PRENATAL SCREENING IN EARLY PREGNANCY

1st TRIMESTER 2nd TRIM

ESTER

BEFORE

*Can be done before or early in pregnancy

Carrier

Scree

ning*

Carrier

Scree

ning*

Dating

Scan

(Ultra

soun

d)

Noninva

sive P

renata

l Scre

ening

1st Tr

imest

er Mate

rnal S

erum Sc

reen

2nd Tr

imest

er Mate

rnal S

erum Sc

reen

Nucha

l Tran

sluce

ncy U

ltraso

und

Amnioce

ntesis

Anatomy S

can (U

ltraso

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Chorio

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pling


Carrier Screening• Ideally done preconception, but can be done during pregnancy

• Looks for irregularities, called mutations, in the mother’s and/or father’s genes that can be passed down to a child

• In most cases both mother and father need to be carriers for the same condition for their children to be at risk of developing symptoms

Dating Scan (Ultrasound)• Usually done at first prenatal visit

• Sound waves are used to visualize the developing baby (this is completely safe!)

• Confirms a heartbeat

Anatomy Scan (Ultrasound) • Performed at ~18-20 weeks

• Used to check normal growth and development of the baby

Noninvasive Prenatal Screening• Done using a standard blood draw from the mother’s arm

as early as 10 weeks

• Assesses risk for chromosome conditions, including Down syndrome and other more severe conditions

• Chromosome conditions generally happen by chance, instead of being inherited from the parents

1st and 2nd Trimester Maternal Serum Screening• Performed at ~10-14 weeks and then at ~15-20 weeks

• Estimates the chance for chromosome conditions and birth defects of the spine

– Looks at a variety of proteins in the mother’s blood

– May include a nuchal translucency ultrasound

• Screening tests are different than diagnostic tests

• Screening tests do not give definitive answers. Instead, they provide information about whether there is an increased chance of a problem being present

Screening Tests

Chorionic Villus Sampling (CVS)• Performed between 10 and 14 weeks

• Using ultrasound guidance, a small sample of the placenta is removed and analyzed

• There is a risk of miscarriage with this procedure, but this risk is less than 1% (less than 1 in 100)

Amniocentesis• Generally performed between 16 and 22 weeks

• A small sample of fluid is taken from the uterus without touching the baby

• Fetal cells in the fluid are analyzed to look for certain kinds of abnormalities, while the fluid itself is analyzed for certain proteins

• There is a risk of miscarriage with this procedure, but this risk is less than 0.5% (less than 1 in 200)

Invasive Diagnostic Tests• Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, are available to provide definitive information

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GenesCells Chromosomes DNA

Noninvasive prenatal screening

Determines risk of baby having a chromosome condition

Carrier screeningDetermines baby’s risk of having a condition passed down from

the mother and father

GENETIC SCREENS ARE LIKE ULTRASOUNDS FOR DNA


Cells• The human body contains trillions of cells

• Cells in different parts of the body have different functions, but with only a few exceptions every cell contains the same genetic information

DNA• Chromosomes are made up of tightly packed DNA

• DNA consists of bases named A,C,T and G

• DNA is like the blueprint for a person

Chromosomes• Most of the genetic information in each cell is located in

the nucleus. It is organized into compact chunks called chromosomes

• Typically cells contain 46 total chromosomes, organized into 23 pairs

• One member of each pair of chromosomes comes from the mother, and the other comes from the father

• Noninvasive prenatal screening is used to determine if by chance there are any extra or missing chromosomes in a pregnancy

Genes• Small segments of DNA that act as the recipes for individual

proteins are called genes

• The genes babies inherit from their parents pass along family characteristics like hair and eye color. Sometimes they also pass on genetic diseases, even if the parents don’t have any symptoms

• Carrier screening is used to determine if prospective parents carry mutations in genes that could cause an inherited condition

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Screening is also available for:Sex chromosomesSometimes there may be too many or too few This screen can also determine the sex of the baby

MicrodeletionsIn rare cases, a tiny piece of a chromosome is missing

Normally cells contain 23 pairs of chromosomes

TrisomyA trisomy occurs when the cells of the body contain an extra chromosome

Trisomy 21 Down syndrome

Trisomy 18 Edwards syndrome

Trisomy 13 Patau syndrome

4 5 6 7 8 9 10 11 12 1332

16 17 18 19 20 21 22 X Y1514

1

CHROMOSOME CONDITIONSCAN HAVE VARYING OUTCOMES


• Typically cells contain 46 total chromosomes, organized into 23 pairs. One member of each pair comes from the mother, and the other comes from the father

• Trisomic conditions occur when an individual has a total number of 47 chromosomes, instead of the typical 46. This excess genetic material can lead to specific conditions, depending on which chromosomal pair has an extra chromosome

Trisomy 21: Down Syndrome• Individuals with Down syndrome have an extra copy of

chromosome 21

• People with Down syndrome typically have mild to moderate intellectual disability and may also have additional health conditions

• Outcomes for people with Down syndrome have improved significantly in the past 40 years with increased access to education, social supports, employment opportunities, and family support

• Down syndrome occurs in about 1 in 800 live births

Trisomy 18: Edwards Syndrome• Individuals with Edwards syndrome have an extra copy of

chromosome 18

• Health problems in babies born with Edwards syndrome are usually life-threatening, including heart defects and breathing difficulties

• Edwards syndrome occurs in about 1 in 5,000 live births. Miscarriages are common with affected pregnancies

Trisomy 13: Patau Syndrome• Individuals with Patau syndrome have an extra copy of

chromosome 13

• Patau syndrome causes life-threatening birth defects and severe intellectual disability

• Patau syndrome occurs in about 1 in 10,000 live births. Miscarriages are common with affected pregnancies

Sex Chromosome Differences• The sex chromosomes determine whether the baby will be male

(XY) or female (XX)

• Sometimes there may be too many or too few sex chromosomes, resulting in potential health issues

• In addition to assessing whether there are extra or missing sex chromosomes, noninvasive prenatal screening can also determine the sex of the baby

Microdeletions• In addition to changes in the number of chromosomes (e.g.,

trisomies), there can be changes in the structure of the chromosomes

• Sometimes small pieces of genetic material are missing. This is called a microdeletion

• Microdeletions can lead to developmental challenges and health issues

Trisomies

MORE INFO

Maternal DNARed blood cellMaternal blood stream Placental DNA

Simple blood draw from the mother’s arm causing no risk to her or the pregnancy

Normal developmental processes cause small pieces of DNA from placenta to enter mother’s bloodstream. Analyzing these DNA fragments can indicate risk of chromosome conditions.

HOW IT WORKS


What is Cell-free DNA?• Normal developmental processes cause small pieces of DNA

from the baby’s placenta to enter the mother’s bloodstream

• These fragments are called cell-free DNA

• Noninvasive prenatal screening uses cell-free DNA to help determine if a pregnancy is at heightened risk for a common chromosome condition

Cell-free DNA is Used for Screening, Not Diagnosis• Screening tests do not give definitive answers. Instead, they

provide information about whether there is an increased chance of a problem being present

• Diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, are available to provide definitive information

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Most people receive reassuring results with no further testing recommended

If you screen positive, you can:• Speak with a specialist

• Pursue diagnostic testing such as amniocentesis or chorionic villus sampling

• Discuss options with your provider

• Prepare for delivery

WHAT HAPPENSAFTER SCREENING?


Diagnostic Testing• Chorionic villus sampling and amniocentesis are two

diagnostic tests that can be done to confirm a diagnosis after a screening test has identified a risk in a pregnancy








Plan and Prepare• Whether or not a woman chooses to have a diagnostic test,

there are many things that can be done to plan and prepare for the birth of a baby

• This may include speaking with a specialist or seeking out a facility equipped to manage newborns with genetic conditions in which to deliver

• There may be early interventions for the baby that can be planned for

• A woman may simply want to talk with a genetic counselor or work with a support group to understand what lies ahead

MORE INFO

More than 80% of children (8 out of 10) with genetic disease are born to parents with no known family history

Genetic screening for

inherited conditions is

relevant for all ethnicities

FAMILY HISTORY DOESN’TTELL THE WHOLE STORY


More Common Than You Think• Individually, inherited conditions are rare, but collectively

the conditions included in the Myriad screen affect 1 in 300 pregnancies (that’s higher than the incidence of Down syndrome)

Family History May Not Tell the Whole Story• Family history can reveal a lot about a woman’s health and

the health of her baby. But many of people are carriers of inherited conditions and simply don’t know it

• In fact, over 80% of children with inherited conditions are born to parents with no known family history

Carrier Screening Provides Important Information• Identifies irregularities, called mutations, in the mother’s

and/or father’s genes that can be passed down to a child

• In most cases, both mother and father need to be carriers for the same condition for their children to be at risk of developing symptoms

• Ideally done preconception, but can be done during pregnancy

– This allows couples in which both partners are carriers for mutations in the same gene to consider alternative family building options, such as an in vitro fertilization (IVF) procedure where embryos are screened for genetic disease before implantation. Other options include adoption or sperm or egg donation

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INHERITED CONDITIONSHAVE VARIOUS OUTCOMES


Limited or no treatment options such as Tay-Sachs disease

Shortened lifespan such as cystic fibrosis

Intellectual disability such as fragile X syndrome

Improvement with early intervention such as Wilson disease

Improvement with Early Intervention

An example of this type of condition is Wilson disease

• Wilson disease is a treatable inherited disease in which the body retains too much copper

• If not diagnosed and treated early, the condition causes organ failure and death

• With careful treatment and avoidance of copper prior to the first symptom’s appearance, most symptoms can be prevented

Shortened Lifespan

An example of this type of condition is cystic fibrosis (also known as CF)

• Cystic fibrosis is a genetic condition characterized by the production of abnormally thick, sticky mucus that clogs various organ systems in the body, particularly the lungs and digestive system

• This results in a shortened life expectancy of ~35 years

Intellectual Disability

An example of this type of condition is fragile X syndrome

• Fragile X syndrome is the most common form of inherited intellectual disability

• It causes a spectrum of developmental and behavioral problems, which tend to be more severe in males

Limited or No Treatment Options

An example of this type of condition is Tay-Sachs disease

• This disease causes brain and other nerve cells to die leading to severe neurological problems

• Infantile Tay-Sachs disease usually causes death by the age of four

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Dad

Doesn’t have the condition, but is a carrier

Mom


Child

Has the condition

Child

Doesn’t have the condition, but is

a carrier

Child

Doesn’t have the condition, but is

a carrier

Child

Doesn’t have the condition, and is

not a carrier

If both parents are carriers of the same condition, every pregnancy has a 1 in 4 (25%) chance of being affected

MOST CONDITIONS ASSESSED WITH CARRIER SCREENING ARE INHERITED RECESSIVELY


Recessive Inheritance• Babies inherit half of their genes from their moms and

half from their dads. These genes pass along family characteristics like hair and eye color. Sometimes they also pass on inherited conditions

• Being a carrier means a normal gene was inherited from one parent and a gene with an irregularity, also called a mutation, was inherited from the other. As long as a person has one normal copy of a gene, they typically don’t have any symptoms

• If a mutation in a gene is found in the mother’s screening test, it will be important to have the father tested as well

• For conditions that have “recessive inheritance,” if both parents have a mutation in the same gene, there’s a 1 in 4 (25%) chance for every pregnancy that the baby will inherit the mutation from both parents and develop symptoms of the associated condition

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Dad

Doesn’t have the condition

Mom


Female child

Carrier, potentially at risk for symptoms

Male child

Has the condition

Female child

Doesn’t have the condition, and is not

a carrier

Male child

Doesn’t have the condition

When the gene associated with a condition is on the X chromosome, each male child has a 1 in 2 (50%) chance of being affected

A FEW CONDITIONS HAVE X-LINKED INHERITANCE


X-linked Recessive Inheritance• The X and Y chromosomes determine sex. Women have two

X chromosomes (XX) while men have one X chromosome and one Y chromosome (XY)

• Girls receive one X chromosome from their mother and one from their father. Boys receive one X chromosome from their mother and a Y chromosome from their father

– When the gene associated with a condition is on the X chromosome (like fragile X), women who are carriers have up to a 1 in 2 (50%) chance of having a child that develops symptoms

MORE INFO

If the mother tests negative, no further testing is recommended

If both parents test positive for same condition, you can:• Pursue diagnostic testing

• Speak with a specialist

• Discuss options with your provider

• Prepare for delivery

If the mother tests positive, partner screening is recommended

WHAT HAPPENSAFTER SCREENING?


Partner Testing• If a mutation in a gene is found in the mother’s screening

test, it will be important to have the father tested if he hasn’t already been tested

• If both parents have a mutation in the same gene, there’s a 1 in 4 (25%) chance for every pregnancy that the baby will inherit the mutation from both parents and develop symptoms of the associated condition

• If two partners are found to be carriers for the same condition and a pregnancy is already underway, a diagnostic test (chorionic villus sampling or amniocentesis) can be used to definitively determine if the baby is expected to have symptoms

Plan and Prepare• Whether or not a woman chooses to have a diagnostic test,

there are many things that can be done to plan and prepare for the birth of a baby

• This may include speaking with a specialist or seeking out a facility equipped to manage newborns with genetic conditions in which to deliver

• There may be early interventions for the baby that can be planned for

• A woman may simply want to talk with a genetic counselor or work with a support group to understand what lies ahead

Diagnostic Testing• Chorionic villus sampling and amniocentesis are two

diagnostic tests that can be done to confirm a diagnosis after a screening test has identified a risk in a pregnancy








Send in a sample

Your test will be analyzed in the

Myriad lab

You and your doctor will receive results in 1-2

weeks

Genetic counselors areavailable on demand to

discuss results

We are committed to making DNA screening affordable.

You can learn more at myriadwomenshealth.com/access

WHAT TO EXPECT WITH MYRIAD GENETIC SCREENS

FORESIGHT® CARRIER SCREEN DISEASE LIST11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CYP11B1)

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency (PTS)

ABCC8-Related Familial Hyperinsulinism (ABCC8)

Adenosine Deaminase Deficiency (ADA)

Adrenoleukodystrophy: X-Linked (ABCD1)

Alpha Thalassemia (HBA1/HBA2)*

Alpha-Mannosidosis (MAN2B1)

Alpha-Sarcoglycanopathy (including Limb-Girdle Muscular Dystrophy, Type 2D) (SGCA)

Alport Syndrome, X-Linked (COL4A5)

Alstrom Syndrome (ALMS1)

AMT-Related Glycine Encephalopathy (AMT)

Andermann Syndrome (SLC12A6)

Argininemia (ARG1)

Argininosuccinic Aciduria (ASL)

Aspartylglycosaminuria (AGA)

Ataxia with Vitamin E Deficiency (TTPA)

Ataxia-Telangiectasia (ATM)

ATP7A-Related Disorders (ATP7A)

Autoimmune Polyglandular Syndrome Type 1 (AIRE)

Autosomal Recessive Osteopetrosis, Type 1 (TCIRG1)

Autosomal Recessive Polycystic Kidney Disease, PKHD1-Related (PKHD1)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (SACS)

Bardet-Biedl Syndrome, BBS1-Related (BBS1)




BCS1L-Related Disorders (BCS1L)

Beta-Sarcoglycanopathy (including Limb-Girdle Muscular Dystrophy, Type 2E) (SGCB)

Biotinidase Deficiency (BTD)

Bloom Syndrome (BLM)

Calpainopathy (CAPN3)

Canavan Disease (ASPA)

Carbamoylphosphate Synthetase I Deficiency (CPS1)

Carnitine Palmitoyltransferase IA Deficiency (CPT1A)

Carnitine Palmitoyltransferase II Deficiency (CPT2)

Cartilage-Hair Hypoplasia (RMRP)

Cerebrotendinous Xanthomatosis (CYP27A1)

Citrullinemia, Type 1 (ASS1)

CLN3-Related Neuronal Ceroid Lipofuscinosis (CLN3)


CLN6-Neuronal Ceroid Lipofuscinosis, Type 6 (CLN6)


Cohen Syndrome (VPS13B)

COL4A3-Related Alport Syndrome (COL4A3)

COL4A4-Related Alport Syndrome (COL4A4)

Combined Pituitary Hormone Deficiency, PROP1-Related (PROP1)

Congenital Adrenal Hyperplasia, CYP21A2-Related (CYP21A2)*

Congenital Disorder of Glycosylation, MPI-Related (MPI)

Congenital Disorder of Glycosylation, Type Ia (PMM2)

Congenital Disorder of Glycosylation, Type Ic (ALG6)

Costeff Optic Atrophy Syndrome (OPA3)

Cystic Fibrosis (CFTR)

Cystinosis (CTNS)

D-Bifunctional Protein Deficiency (HSD17B4)

Delta-Sarcoglycanopathy (SGCD)

Dihydrolipoamide Dehydrogenase Deficiency (DLD)

Dysferlinopathy (DYSF)

Dystrophinopathies (including Duchenne/Becker Muscular Dystrophy)(DMD)

ERCC6-Related Disorders (ERCC6)

ERCC8-Related Disorders (ERCC8)

EVC-Related Ellis-Van Creveld Syndrome (EVC)

EVC2-Related Ellis-Van Creveld Syndrome (EVC2)

Fabry Disease (GLA)

Familial Dysautonomia (IKBKAP)

Familial Mediterranean Fever (MEFV)

Fanconi Anemia Complementation, Group A (FANCA)

Fanconi Anemia, FANCC-Related (FANCC)

FKRP-Related Disorders (FKRP)

FKTN-Related Disorders (including Walker-Warburg Syndrome) (FKTN)

Fragile X Syndrome (FMR1)*

Galactokinase Deficiency (GALK1)

Galactosemia (GALT)

Gamma-Sarcoglycanopathy (SGCG)

Gaucher Disease (GBA)*

GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (including two GJB6 deletions) (GJB2)

GLB1-Related Disorders (GLB1)

GLDC-Related Glycine Encephalopathy (GLDC)

Glutaric Acidemia, GCDH-Related (GCDH)

Glycogen Storage Disease, Type Ia (G6PC)

Glycogen Storage Disease, Type Ib (SLC37A4)

Glycogen Storage Disease, Type III (AGL)

GNE Myopathy (GNE)

GNPTAB-Related Disorders (GNPTAB)

HADHA-Related Disorders (including Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency) (HADHA)

Hb Beta Chain-Related Hemoglobinopathy (including Beta Thalassemia and Sickle Cell Disease)(HBB)

Hereditary Fructose Intolerance (ALDOB)

Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related (LAMB3)

FORESIGHT® CARRIER SCREEN DISEASE LIST (CONTINUED)Hexosaminidase A Deficiency (including Tay-Sachs Disease) (HEXA)

HMG-CoA Lyase Deficiency (HMGCL)

Holocarboxylase Synthetase Deficiency (HLCS)

Homocystinuria, CBS-Related (CBS)

Hydrolethalus Syndrome (HYLS1)

Hypophosphatasia (ALPL)

Isovaleric Acidemia (IVD)

Joubert Syndrome 2 (TMEM216)

Junctional Epidermolysis Bullosa, LAMC2-Related (LAMC2)

Junctional Epidermolysis Bullosa, LAMA3-Related (LAMA3)

KCNJ11-Related Familial Hyperinsulinism (KCNJ11)

Krabbe Disease (GALC)

LAMA2-Related Muscular Dystrophy (LAMA2)

Leigh Syndrome, French-Canadian Type (LRPPRC)

Lipoid Congenital Adrenal Hyperplasia (STAR)

Lysosomal Acid Lipase Deficiency (LIPA)

Maple Syrup Urine Disease, Type Ia (BCKDHA)

Maple Syrup Urine Disease, Type Ib (BCKDHB)

Maple Syrup Urine Disease, Type II (DBT)

Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)

Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC1)

Metachromatic Leukodystrophy (ARSA)

Methylmalonic Acidemia, cblA Type (MMAA)

Methylmalonic Acidemia, cblB Type (MMAB)

Methylmalonic Aciduria and Homocystinuria, cblC Type (MMACHC)

MKS1-Related Disorders (MKS1)

Mucolipidosis III Gamma (GNPTG)

Mucolipidosis IV (MCOLN1)

Mucopolysaccharidosis, Type I (including Hurler Syndrome) (IDUA)

Mucopolysaccharidosis, Type II (IDS)

Mucopolysaccharidosis, Type IIIA (SGSH)

Mucopolysaccharidosis, Type IIIB (NAGLU)

Mucopolysaccharidosis, Type IIIC (HGSNAT)

MUT-Related Methylmalonic Acidemia (MUT)

MYO7A-Related Disorders (MYO7A)

NEB-Related Nemaline Myopathy (NEB)

Nephrotic Syndrome, NPHS1-Related (NPHS1)

Niemann-Pick Disease, SMPD1-Related (SMPD1)

Niemann-Pick Disease, Type C1 (NPC1)

Niemann-Pick Disease, Type C2 (NPC2)

Nijmegen Breakage Syndrome (NBN)

Ornithine Transcarbamylase Deficiency (OTC)

PCCA-Related Propionic Acidemia (PCCA)

PCCB-Related Propionic Acidemia (PCCB)

PCDH15-Related Disorders (including Usher Syndrome, Type 1F) (PCDH15)

Pendred Syndrome (SLC26A4)

Peroxisome Biogenesis Disorder, Type 1 (PEX1)





Phenylalanine Hydroxylase Deficiency (PAH)

POMGNT-Related Disorders (POMGNT1)

Pompe Disease (GAA)

PPT1-Related Neuronal Ceroid Lipofuscinosis (PPT1)

Primary Carnitine Deficiency (SLC22A5)

Primary Hyperoxaluria, Type 1 (AGXT)

Primary Hyperoxaluria, Type 2 (GRHPR)

Primary Hyperoxaluria, Type 3 (HOGA1)

Pycnodysostosis (CTSK)

Pyruvate Carboxylase Deficiency (PC)

Rhizomelic Chondrodysplasia Punctata, Type 1 (PEX7)

RTEL1-Related Disorders (RTEL1)

Salla Disease (SLC17A5)

Sandhoff Disease (HEXB)

Short Chain Acyl-CoA Dehydrogenase Deficiency (ACADS)

Sjogren-Larsson Syndrome (ALDH3A2)

SLC26A2-Related Disorders (SLC26A2)

Smith-Lemli-Opitz Syndrome (DHCR7)

Spastic Paraplegia, Type 15 (ZFYVE26)

Spinal Muscular Atrophy (SMN1)*

Spondylothoracic Dysostosis (MESP2)

Steroid-Resistant Nephrotic Syndrome (NPHS2)

TGM1-Related Autosomal Recessive Congenital Ichthyosis (TGM1)

TPP1-Related Neuronal Ceroid Lipofuscinosis (TPP1)

Tyrosine Hydroxylase Deficiency (TH)

Tyrosinemia, Type I (FAH)

Tyrosinemia, Type II (TAT)

USH1C-Related Disorders (USH1C)

USH2A-Related Disorders (USH2A)

Usher Syndrome, Type 3 (CLRN1)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)

Wilson Disease (ATP7B)

X-Linked Congenital Adrenal Hypoplasia (NR0B1)

X-Linked Juvenile Retinoschisis (RS1)

X-Linked Myotubular Myopathy (MTM1)

X-Linked Severe Combined Immunodeficiency (IL2RG)

Xeroderma Pigmentosum, Group A (XPA)

Xeroderma Pigmentosum, Group C (XPC)

Indicates disease listed in ACOG guidelines

Indicates disease listed in ACMG guidelines

Indicates X-linked disorders

PREQUELTM PRENATAL SCREEN COVERED CONDITIONS

Common aneuploidies

• Trisomy 21 (Down syndrome)

• Trisomy 18 (Edwards syndrome)

• Trisomy 13 (Patau syndrome)

Sex chromosome analysis

• Monosomy X (Turner syndrome)

• Klinefelter syndrome (XXY)

• Trisomy X syndrome (XXX)

• XYY syndrome

• Male (XY)

• Female (XX)

Microdeletions

• 22q11.2 deletion (DiGeorge syndrome)

• 1p36.1 deletion syndrome

• 15q11 deletion (Angelman or Prader-Willi syndrome)

• 4p deletion (Wolf-Hirschhorn syndrome)

• 5p deletion (Cri-du-Chat syndrome)

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