sign in sign up
<<
Home , DiGeorge syndrome, HYLS1, TCIRG1

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

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

Noninvasive prenatal screening conditions Carrier screening Inherited conditions

Serum screening Ultrasound Hormone and levels Anatomical abnormalities associated with birth defects

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening Complementary Screens During Pregnancy Screening vs. Diagnostic Tests • Several different types of screening tests are offered during • Screening tests are different than diagnostic tests pregnancy • Screening tests do not give definitive answers. Instead, they • Each is performed with the goal of assessing for risks and provide information about whether there is an increased complications in the pregnancy chance of a problem being present • Some routine screening tests done during pregnancy • Diagnostic tests, such as chorionic villus sampling (CVS) or include: carrier screening, noninvasive prenatal screening amniocentesis, are available to provide definitive information using -free DNA, ultrasound and maternal serum screening • Screening tests are done at different points during pregnancy and for different purposes Carrier screening and noninvasive prenatal screening, two genetic screens done early PRENATAL SCREENING on, can inform the care of your pregnancy and baby. Noninvasive prenatal screening can help avoid the need for invasive IN EARLY PREGNANCY diagnostic tests (indicated by below).

* *

Carrier Screening Carrier Screening Dating Scan (Ultrasound) Noninvasive Prenatal Screening

1st Trimester Maternal Serum Screen

Nuchal Translucency Ultrasound

1st TR BEFORE IME Chorionic Villus Sampling STE R

2nd Trimester Maternal Serum Screen

Anatomy Scan (Ultrasound)

2 Amniocentesis n d *Can be done before T or early in pregnancy R I M E MORE INFO S T E R

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening

Screening 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

Carrier Screening Noninvasive Prenatal Screening • Ideally done preconception, but can be done during pregnancy • Done using a standard blood draw from the mother’s arm • Looks for irregularities, called , in the mother’s and/or as early as 10 weeks father’s that can be passed down to a child • Assesses risk for chromosome conditions, including Down • In most cases both mother and father need to be carriers for the same syndrome and other more severe conditions condition for their children to be at risk of developing symptoms • Chromosome conditions generally happen by chance, instead of being inherited from the parents

Dating Scan (Ultrasound) • Usually done at first prenatal visit 1st and 2nd Trimester Maternal Serum Screening • Performed at ~10-14 weeks and then at ~15-20 weeks • Sound waves are used to visualize the developing baby (this is completely safe!) • Estimates the chance for chromosome conditions and birth defects of the spine • Confirms a heartbeat – Looks at a variety of in the mother’s blood – May include a nuchal translucency ultrasound Anatomy Scan (Ultrasound) • Performed at ~18-20 weeks • Used to check normal growth and development of the baby

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

Chorionic Villus Sampling (CVS) Amniocentesis • Performed between 10 and 14 weeks • Generally performed between 16 and 22 weeks • Using ultrasound guidance, a small sample of the placenta is removed • A small sample of fluid is taken from the uterus without touching and analyzed the baby • There is a risk of with this procedure, but this risk is less • Fetal cells in the fluid are analyzed to look for certain kinds of than 1% (less than 1 in 100) 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) GENETIC SCREENS ARE LIKE ULTRASOUNDS FOR DNA

Noninvasive Carrier screening prenatal screening Determines baby’s risk of having Determines risk of baby having a condition passed down from a chromosome condition the mother and father

Cells DNA Genes

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening Cells DNA • The human body contains trillions of cells • Chromosomes are made up of tightly packed DNA • Cells in different parts of the body have different functions, • DNA consists of bases named A,C,T and G but with only a few exceptions every cell contains the same • DNA is like the blueprint for a person genetic information

Chromosomes Genes • Most of the genetic information in each cell is located in • Small segments of DNA that act as the recipes for individual the nucleus. It is organized into compact chunks called proteins are called genes chromosomes • The genes babies inherit from their parents pass along family • Typically cells contain 46 total chromosomes, organized into characteristics like hair and eye color. Sometimes they also 23 pairs pass on genetic , even if the parents don’t have any • One member of each pair of chromosomes comes from the symptoms mother, and the other comes from the father • Carrier screening is used to determine if prospective parents • Noninvasive prenatal screening is used to determine if by carry mutations in genes that could cause an inherited chance there are any extra or missing chromosomes in a condition pregnancy CHROMOSOME CONDITIONS CAN HAVE VARYING OUTCOMES

1 2 3 4 5 6 7 8 9 10 11 12 13

14 15 16 17 18 19 20 21 22 X Y

Normally cells contain 23 pairs of chromosomes

Trisomy Screening is also available for: A occurs when the cells of the body Sex chromosomes contain an extra chromosome Sometimes there may be too many or too few This screen can also determine the sex of the baby Trisomy 21 Trisomy 18 Microdeletions Trisomy 13 In rare cases, a tiny piece of a chromosome is missing

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening Trisomy 18: Edwards Syndrome • Typically cells contain 46 total chromosomes, organized into 23 • Individuals with Edwards syndrome have an extra copy of pairs. One member of each pair comes from the mother, and the other comes from the father • Health problems in babies born with Edwards syndrome • Trisomic conditions occur when an individual has a total number are usually life-threatening, including heart defects and of 47 chromosomes, instead of the typical 46. This excess genetic breathing difficulties material can lead to specific conditions, depending on which • Edwards syndrome occurs in about 1 in 5,000 live births. chromosomal pair has an extra chromosome are common with affected pregnancies

Trisomy 21: Down Syndrome Trisomy 13: Patau Syndrome • Individuals with Down syndrome have an extra copy of • Individuals with Patau syndrome have an extra copy of • People with Down syndrome typically have mild to moderate • Patau syndrome causes life-threatening birth defects and intellectual and may also have additional health conditions severe • Outcomes for people with Down syndrome have improved • Patau syndrome occurs in about 1 in 10,000 live births. significantly in the past 40 years with increased access to education, Miscarriages are common with affected pregnancies social supports, employment opportunities, and family support • Down syndrome occurs in about 1 in 800 live births

Sex Chromosome Differences Microdeletions • The sex chromosomes determine whether the baby will be male • In addition to changes in the number of chromosomes (e.g., (XY) or female (XX) trisomies), there can be changes in the structure of the • Sometimes there may be too many or too few sex chromosomes, chromosomes resulting in potential health issues • Sometimes small pieces of genetic material are missing. This • In addition to assessing whether there are extra or missing sex is called a microdeletion chromosomes, noninvasive prenatal screening can also determine • Microdeletions can lead to developmental challenges and the sex of the baby health issues HOW IT WORKS

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

Maternal blood stream Red blood cell Maternal DNA Placental DNA

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. MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening What is Cell-free DNA? Cell-free DNA is Used for Screening, Not Diagnosis • Normal developmental processes cause small pieces of DNA • Screening tests do not give definitive answers. Instead, they from the baby’s placenta to enter the mother’s bloodstream provide information about whether there is an increased • These fragments are called cell-free DNA chance of a problem being present • Noninvasive prenatal screening uses cell-free DNA to help • Diagnostic tests, such as chorionic villus sampling (CVS) or determine if a pregnancy is at heightened risk for a common amniocentesis, are available to provide definitive information chromosome condition WHAT HAPPENS AFTER SCREENING?

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

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening Diagnostic Testing Amniocentesis • Chorionic villus sampling and amniocentesis are two • Generally performed between 16 and 22 weeks diagnostic tests that can be done to confirm a diagnosis • A small sample of fluid is taken from the uterus without after a screening test has identified a risk in a pregnancy touching the baby • Fetal cells in the fluid are analyzed to look for certain kinds Chorionic Villus Sampling (CVS) of abnormalities, while the fluid itself is analyzed for certain • Performed between 10 and 14 weeks proteins • Using ultrasound guidance, a small sample of the placenta is • There is a risk of miscarriage with this procedure, but this risk removed and analyzed is less than 0.5% (less than 1 in 200) • There is a risk of miscarriage with this procedure, but this risk is less than 1% (less than 1 in 100)

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 FAMILY HISTORY DOESN’T TELL THE WHOLE STORY

More than 80% of children (8 out of 10) with genetic are born to parents with no known family history Genetic screening for inherited conditions is relevant for all ethnicities

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening More Common Than You Think Carrier Screening Provides Important Information • Individually, inherited conditions are rare, but collectively • Identifies irregularities, called mutations, in the mother’s the conditions included in the Myriad screen affect 1 in and/or father’s genes that can be passed down to a child 300 pregnancies (that’s higher than the incidence of Down • In most cases, both mother and father need to be carriers syndrome) for the same condition for their children to be at risk of developing symptoms

Family History May Not Tell the Whole Story • Ideally done preconception, but can be done during • Family history can reveal a lot about a woman’s health and pregnancy the health of her baby. But many of people are carriers of – This allows couples in which both partners are carriers inherited conditions and simply don’t know it for mutations in the same to consider alternative • In fact, over 80% of children with inherited conditions are family building options, such as an in vitro fertilization (IVF) born to parents with no known family history procedure where embryos are screened for genetic disease before implantation. Other options include adoption or sperm or egg donation INHERITED CONDITIONS HAVE VARIOUS OUTCOMES

Improvement with early intervention such as Wilson disease

Intellectual disability such as

Shortened lifespan such as cystic fibrosis

Limited or no treatment options such as Tay-Sachs disease

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening Improvement with Early Intervention Intellectual Disability An example of this type of condition is Wilson disease An example of this type of condition is fragile X syndrome • Wilson disease is a treatable inherited disease in which the • Fragile X syndrome is the most common form of inherited body retains too much copper intellectual disability • If not diagnosed and treated early, the condition causes • It causes a spectrum of developmental and behavioral organ failure and death problems, which tend to be more severe in males • With careful treatment and avoidance of copper prior to the first symptom’s appearance, most symptoms can be prevented

Shortened Lifespan Limited or No Treatment Options An example of this type of condition is cystic fibrosis (also An example of this type of condition is Tay-Sachs disease known as CF) • This disease causes and other nerve cells to die leading • Cystic fibrosis is a genetic condition characterized by the to severe neurological problems production of abnormally thick, sticky mucus that clogs • Infantile Tay-Sachs disease usually causes death by the age various organ systems in the body, particularly the lungs and of four digestive system • This results in a shortened life expectancy of ~35 years If both parents are carriers MOST CONDITIONS of the same condition, every pregnancy has a 1 in 4 (25%) ASSESSED WITH CARRIER chance of being affected SCREENING ARE INHERITED RECESSIVELY

Dad Mom Doesn’t have the condition, Doesn’t have the condition, but is a carrier but is a carrier

Child Child Child Child Doesn’t have the Doesn’t have the Doesn’t have the Has the condition condition, and is condition, but is condition, but is not a carrier a carrier a carrier

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening 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 , 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 When the gene associated with a A FEW CONDITIONS condition is on the , each male child has a 1 in 2 (50%) HAVE X-LINKED chance of being affected INHERITANCE

Dad Mom Doesn’t have Doesn’t have the condition, the condition but is a carrier

Male child Male child Female child Female child Doesn’t have Has the condition Doesn’t have the Carrier, potentially the condition condition, and is not at risk for symptoms a carrier

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening 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 (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 WHAT HAPPENS AFTER SCREENING?

If the mother If the mother tests If both parents test positive tests negative, positive, partner for same condition, you can: no further testing screening is • Pursue diagnostic testing is recommended recommended • Speak with a specialist • Discuss options with your provider

• Prepare for delivery

MORE INFO

Screening overview Genetic screening Noninvasive prenatal screening Carrier screening Diagnostic Testing Amniocentesis • Chorionic villus sampling and amniocentesis are two • Generally performed between 16 and 22 weeks diagnostic tests that can be done to confirm a diagnosis after • A small sample of fluid is taken from the uterus without a screening test has identified a risk in a pregnancy touching the baby • Fetal cells in the fluid are analyzed to look for certain kinds Chorionic Villus Sampling (CVS) of abnormalities, while the fluid itself is analyzed for certain • Performed between 10 and 14 weeks proteins • Using ultrasound guidance, a small sample of the placenta is • There is a risk of miscarriage with this procedure, but this risk removed and analyzed is less than 0.5% (less than 1 in 200) • There is a risk of miscarriage with this procedure, but this risk is less than 1% (less than 1 in 100)

Partner Testing Plan and Prepare • If a mutation in a gene is found in the mother’s screening • Whether or not a woman chooses to have a diagnostic test, test, it will be important to have the father tested if he hasn’t there are many things that can be done to plan and prepare already been tested for the birth of a baby • If both parents have a mutation in the same gene, there’s • This may include speaking with a specialist or seeking a 1 in 4 (25%) chance for every pregnancy that the baby out a facility equipped to manage newborns with genetic will inherit the mutation from both parents and develop conditions in which to deliver symptoms of the associated condition • There may be early interventions for the baby that can be • If two partners are found to be carriers for the same planned for condition and a pregnancy is already underway, a diagnostic • A woman may simply want to talk with a genetic counselor or test (chorionic villus sampling or amniocentesis) can be used work with a support group to understand what lies ahead to definitively determine if the baby is expected to have symptoms WHAT TO EXPECT WITH MYRIAD GENETIC SCREENS

Send in Your test will be You and your doctor will Genetic counselors are a sample analyzed in the receive results in 1-2 available on demand to Myriad lab weeks discuss results

We are committed to making DNA screening affordable. You can learn more at myriadwomenshealth.com/access

FORESIGHT® CARRIER SCREEN DISEASE LIST 11-Beta-Hydroxylase-Deficient Autosomal Recessive Spastic Ataxia of COL4A4-Related Alport Syndrome Fanconi Anemia, FANCC-Related Congenital Adrenal Hyperplasia Charlevoix-Saguenay (SACS) (COL4A4) (FANCC) (CYP11B1) Bardet-Biedl Syndrome, Combined Pituitary Hormone FKRP-Related Disorders (FKRP) 6-Pyruvoyl-Tetrahydropterin Synthase BBS1-Related (BBS1) Deficiency, PROP1-Related PROP1( ) FKTN-Related Disorders (including Deficiency PTS( ) Bardet-Biedl Syndrome, Congenital Adrenal Hyperplasia, Walker-Warburg Syndrome) (FKTN) BBS10-Related (BBS10) CYP21A2-Related (CYP21A2)* ABCC8-Related Familial Fragile X Syndrome (FMR1)* Hyperinsulinism (ABCC8) Bardet-Biedl Syndrome, Congenital Disorder of Glycosylation, Galactokinase Deficiency GALK1( ) Adenosine Deaminase Deficiency BBS12-Related (BBS12) MPI-Related (ADA) Bardet-Biedl Syndrome, (MPI) Galactosemia (GALT) Adrenoleukodystrophy: X-Linked BBS2-Related (BBS2) Congenital Disorder of Glycosylation, Gamma-Sarcoglycanopathy (SGCG) Type Ia (PMM2) (ABCD1) BCS1L-Related Disorders (BCS1L) Gaucher Disease (GBA)* Alpha Thalassemia (HBA1/HBA2)* Beta-Sarcoglycanopathy (including Congenital Disorder of Glycosylation, Type Ic (ALG6) GJB2-Related DFNB1 Nonsyndromic Limb-Girdle Muscular Dystrophy, Type and Deafness (including 2E) (SGCB) Alpha-Mannosidosis (MAN2B1) Costeff Optic Atrophy Syndrome two GJB6 deletions) (GJB2) Biotinidase Deficiency BTD( ) (OPA3) Alpha-Sarcoglycanopathy (including GLB1-Related Disorders (GLB1) Bloom Syndrome (BLM) Cystic Fibrosis (CFTR) Limb-Girdle Muscular Dystrophy, Type GLDC-Related Glycine 2D) (SGCA) Calpainopathy (CAPN3) Cystinosis (CTNS) (GLDC) Alport Syndrome, X-Linked (COL4A5) Canavan Disease (ASPA) D-Bifunctional Protein Deficiency Glutaric Acidemia, GCDH-Related Carbamoylphosphate Synthetase I (HSD17B4) (GCDH) Alstrom Syndrome (ALMS1) Deficiency CPS1( ) Delta-Sarcoglycanopathy (SGCD) Glycogen Storage Disease, AMT-Related Glycine Encephalopathy Carnitine Palmitoyltransferase IA Dihydrolipoamide Dehydrogenase Type Ia (G6PC) Deficiency CPT1A( ) (AMT) Deficiency DLD( ) Glycogen Storage Disease, Andermann Syndrome (SLC12A6) Carnitine Palmitoyltransferase II Dysferlinopathy (DYSF) Type Ib (SLC37A4) Deficiency CPT2( ) Argininemia (ARG1) Dystrophinopathies (including Glycogen Storage Disease, Cartilage-Hair Hypoplasia (RMRP) Duchenne/Becker Muscular Dystrophy) Type III (AGL) Argininosuccinic Aciduria (ASL) Cerebrotendinous Xanthomatosis (DMD) GNE Myopathy (GNE) Aspartylglycosaminuria (AGA) (CYP27A1) ERCC6-Related Disorders (ERCC6) GNPTAB-Related Disorders (GNPTAB) Ataxia with Vitamin E Deficiency Citrullinemia, Type 1 (ASS1) ERCC8-Related Disorders (ERCC8) HADHA-Related Disorders (TTPA) CLN3-Related Neuronal Ceroid EVC-Related Ellis-Van Creveld (including Long Chain 3-Hydroxyacyl- Ataxia-Telangiectasia (ATM) Lipofuscinosis (CLN3) Syndrome (EVC) CoA Dehydrogenase Deficiency) ATP7A-Related Disorders (ATP7A) CLN5-Related Neuronal Ceroid (HADHA) Lipofuscinosis (CLN5) EVC2-Related Ellis-Van Creveld Syndrome (EVC2) Hb Beta Chain-Related Autoimmune Polyglandular Syndrome CLN6-Neuronal Ceroid Lipofuscinosis, Hemoglobinopathy (including Beta Fabry Disease (GLA) Type 1 (AIRE) Type 6 (CLN6) Thalassemia and Sickle Cell Disease) CLN8-Related Neuronal Ceroid Familial Dysautonomia (IKBKAP) (HBB) Autosomal Recessive , Lipofuscinosis (CLN8) Type 1 (TCIRG1) Hereditary Fructose Intolerance Cohen Syndrome (VPS13B) Familial Mediterranean Fever (MEFV) (ALDOB) Autosomal Recessive Polycystic Disease, PKHD1-Related (PKHD1) COL4A3-Related Alport Syndrome Fanconi Anemia Complementation, Herlitz Junctional Epidermolysis (COL4A3) Group A (FANCA) Bullosa, LAMB3-Related (LAMB3) FORESIGHT® CARRIER SCREEN DISEASE LIST (CONTINUED) Hexosaminidase A Deficiency Methylmalonic Acidemia, PCDH15-Related Disorders (including SLC26A2-Related Disorders (SLC26A2) (including Tay-Sachs Disease) (HEXA) cblA Type (MMAA) Usher Syndrome, Type 1F) (PCDH15) Smith-Lemli-Opitz Syndrome (DHCR7)

Methylmalonic Acidemia, Pendred Syndrome (SLC26A4) Spastic Paraplegia, Type 15 (ZFYVE26) HMG-CoA Lyase Deficiency HMGCL( ) cblB Type (MMAB) Peroxisome Biogenesis Disorder, Type 1 Spinal Muscular Atrophy (SMN1)* Holocarboxylase Synthetase Methylmalonic Aciduria and (PEX1) Homocystinuria, cblC Type (MMACHC) Spondylothoracic Dysostosis (MESP2) Deficiency HLCS( ) Peroxisome Biogenesis Disorder, Type 3 Homocystinuria, CBS-Related (CBS) MKS1-Related Disorders (MKS1) (PEX12) Steroid-Resistant Nephrotic Syndrome (NPHS2) (HYLS1) Mucolipidosis III Gamma (GNPTG) Peroxisome Biogenesis Disorder, Type 4 TGM1-Related Autosomal Recessive Congenital Ichthyosis (TGM1) Hypophosphatasia (ALPL) Mucolipidosis IV (MCOLN1) (PEX6) Peroxisome Biogenesis Disorder, Type 5 TPP1-Related Neuronal Ceroid Lipofuscinosis Isovaleric Acidemia (IVD) Mucopolysaccharidosis, Type I (TPP1) (including Hurler Syndrome) (IDUA) (PEX2) Joubert Syndrome 2 (TMEM216) Tyrosine Hydroxylase Deficiency(TH) Mucopolysaccharidosis, Peroxisome Biogenesis Disorder, Type 6 Junctional Epidermolysis Bullosa, Type II (IDS) (PEX10) Tyrosinemia, Type I (FAH) LAMC2-Related Phenylalanine Hydroxylase Deficiency (LAMC2) Mucopolysaccharidosis, Tyrosinemia, Type II (TAT) (PAH) Type IIIA (SGSH) USH1C-Related Disorders (USH1C) Junctional Epidermolysis Bullosa, POMGNT-Related Disorders LAMA3-Related (LAMA3) Mucopolysaccharidosis, USH2A-Related Disorders (USH2A) Type IIIB (NAGLU) (POMGNT1) KCNJ11-Related Familial Usher Syndrome, Type 3 (CLRN1) Pompe Disease (GAA) Hyperinsulinism (KCNJ11) Mucopolysaccharidosis, Very Long Chain Acyl-CoA Dehydrogenase Type IIIC (HGSNAT) PPT1-Related Neuronal Ceroid Krabbe Disease (GALC) Deficiency ACADVL( ) MUT-Related Methylmalonic Acidemia Lipofuscinosis (PPT1) LAMA2-Related Muscular Dystrophy Wilson Disease (ATP7B) (MUT) Primary Carnitine Deficiency SLC22A5( ) (LAMA2) X-Linked Congenital Adrenal Hypoplasia MYO7A-Related Disorders (MYO7A) Primary Hyperoxaluria, Leigh Syndrome, French-Canadian (NR0B1) Type 1 (AGXT) Type (LRPPRC) NEB-Related Nemaline Myopathy X-Linked Juvenile Retinoschisis (RS1) (NEB) Primary Hyperoxaluria, Lipoid Congenital Adrenal Hyperplasia Type 2 (GRHPR) X-Linked Myotubular Myopathy (MTM1) (STAR) Nephrotic Syndrome, Primary Hyperoxaluria, X-Linked Severe Combined Lysosomal Acid Lipase Deficiency NPHS1-Related (NPHS1) Type 3 (HOGA1) (IL2RG) (LIPA) Niemann-Pick Disease, Xeroderma Pigmentosum, SMPD1-Related (SMPD1) Pycnodysostosis (CTSK) Maple Syrup Urine Disease, Group A (XPA) Type Ia (BCKDHA) Niemann-Pick Disease, Type C1 Pyruvate Carboxylase Deficiency PC( ) Xeroderma Pigmentosum, (NPC1) Maple Syrup Urine Disease, Type Ib Rhizomelic Chondrodysplasia Punctata, Group C (XPC) (BCKDHB) Niemann-Pick Disease, Type C2 Type 1 (PEX7) Maple Syrup Urine Disease, (NPC2) RTEL1-Related Disorders (RTEL1) Type II (DBT) Nijmegen Breakage Syndrome (NBN) Salla Disease (SLC17A5) Medium Chain Acyl-CoA Ornithine Transcarbamylase Deficiency Sandhoff Disease (HEXB) Indicates disease listed in ACOG guidelines Dehydrogenase Deficiency ACADM( ) (OTC) Short Chain Acyl-CoA Dehydrogenase Megalencephalic PCCA-Related Propionic Acidemia Deficiency ACADS( ) Indicates disease listed in ACMG guidelines Leukoencephalopathy with Subcortical (PCCA) Cysts (MLC1) Sjogren-Larsson Syndrome (ALDH3A2) PCCB-Related Propionic Acidemia Metachromatic Leukodystrophy (ARSA) (PCCB) Indicates X-linked disorders PREQUELTM PRENATAL SCREEN COVERED CONDITIONS

Common Sex chromosome analysis Microdeletions • Trisomy 21 (Down syndrome) • X () • 22q11.2 (DiGeorge syndrome) • Trisomy 18 (Edwards syndrome) • (XXY) • 1p36.1 deletion syndrome • Trisomy 13 (Patau syndrome) • syndrome (XXX) • 15q11 deletion (Angelman or Prader-Willi • XYY syndrome syndrome) • Male (XY) • 4p deletion (Wolf-Hirschhorn syndrome) • Female (XX) • 5p deletion (Cri-du-Chat syndrome)

myriadwomenshealth.com | 180 Kimball Way, South San Francisco, CA 94080 Foresight & Prequel Support | [email protected] | (888) 268-6795

Copyright 2020 © Myriad Women’s Health, Inc. All rights reserved. MGPTEDUFLIPBK 03/20