Reproductive Pre/Post Natal Diagnostic Services

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.  The abnormal presence of acetylcholinesterase in amniotic fluid is indicative of an open fetal defect. When AChE is detected, the ratio of AChE to pseudocholinesterase (PChE), a non-specific cholinesterase usually found in amniotic fluid, may help distinguish open neural tube defects from open ventral wall defects or fetal blood contaminated fluid.

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. AFP can be measured in amniotic fluid which is composed primarily of fetal urine. Amniotic fluid AFP (AF-AFP) may be elevated in open fetal body wall defects, most commonly open neural tube defects (NTD) and open ventral wall defects, due to transfer from exposed fetal vessels and tissue. AF-AFP is elevated in congenital nephrosis from increased glomerular filtration of this relatively small protein. In cases with elevated AF-AFP, the risk for an open NTD or other fetal abnormality depends on the degree of elevation in the AF-AFP MoM (multiple of the median), the results of amniotic fluid acetylcholinesterase testing, the detection of fetal hemoglobin and other significant risk factors.

• Abnormal first trimester screening result
• Advanced maternal age (>35 years of age)
• Previous pregnancy with chromosomal abnormality
• Recurrent spontaneous miscarriage
• Family history of a chromosomal abnormality
• Abnormal maternal serum screening results
• Abnormal ultrasound findings

• Abnormal first trimester screening result
• Advanced maternal age (>35 years of age)
• Previous pregnancy with chromosomal abnormality
• Recurrent spontaneous miscarriage
• Family history of a chromosomal abnormality
• Abnormal maternal serum screening results
• Abnormal ultrasound findings

Identification of carriers for autosomal recessive diseases of increased prevalence among people of Jewish descent.

• Advanced maternal age (>35 years of age)
• Previous pregnancy with chromosomal abnormality
• Recurrent spontaneous miscarriage
• Family history of a chromosomal abnormality
• Abnormal maternal serum screening results
• Abnormal ultrasound findings

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

Cystic fibrosis (CF) is the most common autosomal recessive genetic disease with a disease frequency of approximately 1 in 2,500 newborns.  This disease is caused by mutations in two copies of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR).

DiGeorge and Velocardiofacial syndromes both are caused by 22q11 deletions.  Individuals affected with DiGeorge syndrome are characterized by congenital heart defects, an absent or hypoplastic thymus, hypocalcemia, cleft lip and/or palate, microcephaly, immune deficiency, renal anomalies and learning dificulties.

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

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

Testing of peripheral blood is recommended for individuals with multiple congenital anomalies, mental retardation, developmental delay, dysmorphic features, sexual ambiguity, multiple miscarriages, infertility, fetal demise and gamete donor screening