Maternal–Fetal Surgery for Myelomeningocele

Number 550

ABSTRACT: Myelomeningocele, the most severe form of spina bifida, occurs in approximately 1 in 1,500 births in the United States. Fetuses in whom myelomeningocele is diagnosed typically are delivered...

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...

Personalized Genomic Testing for Disease Risk

Number 527

ABSTRACT: Advances in genetic technologies have led to the identification of hundreds of single nucleotide polymorphisms that are associated with a variety of complex diseases, including cancer, diab...

Pharmacogenetics

Number 488

ABSTRACT: Pharmacogenetics is the study of genetic variations in drug response that are determined by specific genes. It is hoped that the use of pharmacogenetics in clinical practice may improve dru...

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...

Newborn Screening

Number 481

(Replaces No. 393, December 2007)

ABSTRACT: Newborn screening programs are mandatory, state-based public health programs. They provide newborns in the United States with presymptomatic testing and necessary follow-up care for a varie...

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...

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...

Von Willebrand Disease in Women

Number 451

ABSTRACT: Approximately 3 million women in the United States have inherited bleeding disorders. The prevalence of bleeding disorders is particularly high among women with menorrhagia. Von Willebrand ...

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...

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...

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...

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...

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 ...

Ethical Issues in Genetic Testing

Number 410

ABSTRACT: Genetic testing is poised to play an increasing role in the practice of obstetrics and gynecology. To assure patients of the highest quality of care, physicians should become familiar with ...

Direct-to-Consumer Marketing of Genetic Testing

Number 409

ABSTRACT: Marketing of genetic testing, although similar to direct-to-consumer advertising of prescription drugs, raises additional concerns and considerations. These include issues of limited knowle...

Umbilical Cord Blood Banking

Number 399

(Reaffirmed 2012, Replaces No. 183, April 1997)

ABSTRACT: Two types of banks have emerged for the collection and storage of umbilical cord blood—public banks and private banks. Public banks promote allogenic (related or unrelated) donation, analog...

Perinatal Risks Associated With Assisted Reproductive Technology

Number 324

(Reaffirmed 2007)

ABSTRACT: Over the past two decades, the use of assisted reproductive technology (ART) has increased dramatically worldwide and has made pregnancy possible for many infertile couples. A growing bod...

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...