Array Comparative Genomic Hybridization in Prenatal Diagnosis

Number 446

ABSTRACT: The widespread use of array comparative genomic hybridization (CGH) for the diagnosis of genomic rearrangements in children with idiopathic mental retardation, developmental delay, and mult...

Carrier Screening for Fragile X Syndrome

Number 469

(Replaces No. 338, June 2006)

ABSTRACT: Fragile X syndrome is the most common inherited form of mental retardation. The syndrome occurs in approximately 1 in 3,600 males and 1 in 4,000–6,000 females. Approximately 1 in 250 female...

Family History as a Risk Assessment Tool

Number 478

ABSTRACT: Family history plays a critical role in assessing the risk of inherited medical conditions and single gene disorders. Several methods have been established to obtain family medical historie...

Maternal Phenylketonuria

Number 449

(Replaces No. 230, January 2000)

ABSTRACT: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism characterized by a deficiency of the hepatic enzyme, phenylalanine hydroxylase, an enzyme responsi...

Noninvasive Prenatal Testing for Fetal Aneuploidy

Number 545

ABSTRACT: Noninvasive prenatal testing that uses cell free fetal DNA from the plasma of pregnant women offers tremendous potential as a screening tool for fetal aneuploidy. Cell free fetal DNA testin...

Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

Number 442

(Replaces No. 298, August 2004)

ABSTRACT: Certain autosomal recessive disease conditions are more prevalent in individuals of Eastern European Jewish (Ashkenazi) descent. Previously, the American College of Obstetricians and Gyneco...

Preimplantation Genetic Screening for Aneuploidy

Number 430

ABSTRACT: Preimplantation genetic screening differs from preimplantation genetic diagnosis for single gene disorders and was introduced for the detection of chromosomal aneuploidy. Current data does ...

Screening for Tay - Sachs Disease

Number 318

(Reaffirmed 2010, Replaces No. 162, November 1995)

ABSTRACT: Tay–Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. Carrier screening should be offered before pregnancy to individuals and couples at h...

Spinal Muscular Atrophy

Number 432

ABSTRACT: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease that results from degeneration of spinal cord motor neurons leading to atrophy of skeletal muscle and overa...

Update on Carrier Screening for Cystic Fibrosis

Number 486

(Replaces No. 325, December 2005)

ABSTRACT: In 2001, the American College of Obstetricians and Gynecologists and the American College of Medical Genetics introduced guidelines for prenatal and preconception carrier screening for cyst...