Prenatal Menu

Acetylcholinesterase (AChE) 

Indications

Acetylcholinesterase (AChE) is a neural enzyme present in cerebral spinal fluid and fetal blood. AChE is not present in maternal blood and is not normally measurable in amniotic fluid….

Alpha-fetoprotein (AF-AFP)

Indications

Alpha-fetoprotein (AFP) is a protein produced by the fetal liver.  The function of the protein is not known.  It is found in high concentration in fetal blood and in lower concentration in fetal urine….

Amniotic Fluid Chromosome Analysis 

Indications

  • Abnormal first trimester screening result
  • Advanced maternal age (>35 years of age)..

AneuVysion™ Prenatal FISH (13, 18, 21, X, Y)   [FDA Approved]

Indications

  • Abnormal first trimester screening result
  • Advanced maternal age (>35 years of age)…

Chorionic Villus Sampling (CVS) Chromosome Analysis

Indications

  • Advanced maternal age (>35 years of age)
  • Previous pregnancy with chromosomal abnormality…

Assure™ SNP Microarray Analysis (FDA cleared) – Prenatal & Postnatal 

Indications

  • Abnormal fetal ultrasound findings with a normal karyotype
  • De novo apparently balanced chromosomal rearrangement….

Cri-du-chat

Indications

Individuals affected with Cri-du-chat are characterized by dysmorphic facial features, microcephaly, growth deficiency, mental retardation, speech delay and a characteristic “cat-like” cry…

DiGeorge/Velocardiofacial Syndrome 

Indications

DiGeorge and Velocardiofacial syndromes both are caused by 22q11 deletions.  Fetus with congenital heart defect on fetal ultrasound….

Down Syndrome (trisomy 21)

Indications 
Down syndrome is caused by the presence of an additional copy of all or a portion of chromosome 21…

Edwards Syndrome

Indications For Edwards syndrome (trisomy 18)
Trisomy 18 or Edwards Syndrome is a genetic disorder caused by the presence of an extra copy of all or part of chromosome 18….

Fragile X

Indications

Fragile X syndrome is the most common form of inherited intellectual disability.  Fragile X syndrome occurs among all ethnic backgrounds and racial groups….

Kallmann Syndrome 1

Indications

Kallmann syndrome consists of congenital, isolated, idiopathic hypogonadotropic hypogonadism and anosmia….

Miller-Dieker Syndrome 

Indications

Individuals affected with Miller-Dieker syndrome are characterized by lissencephaly, mental retardation and a distinct facial appearance

Patau syndrome (trisomy 13)

Indications
Patau syndrome, also known as trisomy 13, is a syndrome…

Prader-Willi Syndrome (PWS)/Angelman Syndrome

Indications

Diagnostic criteria for PWS may include: hypotonia, failure to thrive, rapid weight gain between 12 months and 6 years, characteristic facial features, hypogonadism and mild to moderate mental retardation…

Smith-Magenis Syndrome

Indications

Individuals affected with Smith-Magenis syndrome are characterized by a flattened mid-face, down-turned mouth, hypotonia, short, broad hands, mental retardation, chronic sleep disturbance and self-injurious behavior….

Steroid Sulfatase Deficiency

Indications

Steroid Sulfatase Deficiency (X-linked Ichthyosis) is a genetic disorder that causes an X-linked form of Ichthyosis…..

Williams Syndrome

Indications

Williams syndrome is a genetic disorder characterized by “elfin” facial features, mental retardation, growth deficiency, hypercalcemia and cardiovascular disease….

Wolf-Hirschhorn Syndrome 

Indications

Individuals with Wolf-Hirschhorn syndrome are characterized by microcephaly, growth deficiency, mental retardation and characteristic facial features…