Pruebas para la deteccion de defectos congenitos

SP165

Las pruebas de deteccion pueden proporcionar informacion sobre el riesgo que corre una mujer embarazada de tener un bebe con determinados defectos congenitos. Estas pruebas tambien pueden ayudar a su...

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...

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...

New Recommendations for Down Syndrome Call for Offering Screening to All Pregnant Women

Washington, DC -- All pregnant women, regardless of their age, should be offered screening for Down syndrome, according to a new Practice Bulletin issued today by The American College of Obstetrician...

ACOG Opposes Sex Selection for Family Planning Purposes

Washington, DC -- Helping patients to choose the sex of their offspring to avoid serious sex-linked genetic disorders is considered ethical for doctors, but participating in sex selection for persona...

ACOG Issues Opinion on Ethics and Patient Testing

Washington, DC -- Rapid technological developments in medical testing have increased the complexity of the decision-making process for both physicians and patients. In response, The American College ...

ACOG's Screening Guidelines on Chromosomal Abnormalities

San Diego, CA -- Today experts addressed in further detail new screening guidelines for fetal chromosomal abnormalities at the 55th Annual Clinical Meeting of The American College of Obstetricians an...

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...

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...

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 ...

La fibrosis quistica: Pruebas de deteccion y diagnostico prenatal

SP171

La fibrosis quistica es un trastorno genetico que ocasiona problemas respiratorios y digestivos. Se origina debido a un gen anormal que se transmite de uno de los padres a su hijo. Aunque no hay cura...

ACOG Issues New Guidelines on Managing Stillbirths

Washington, DC -- Approximately 1 out of every 160 deliveries in the US ends in stillbirth—a devastating experience for women and their families—yet its causes remain poorly understood. I...

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 ...

Routine Screening for Hereditary Breast and Ovarian Cancer Recommended

Washington, DC -- Evaluating a patient's risk of hereditary breast and ovarian cancer syndrome is an important first step in cancer prevention and early detection and should be a routine part of ob-g...

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...

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...

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...

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...

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 ...

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 Health History is Important Screening Tool

Washington, DC -- All women should have a family health history on file and it should be reviewed and updated regularly, according to The American College of Obstetricians and Gynecologists (The Coll...

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...

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...

All Women Should Be Offered Cystic Fibrosis Screening Regardless of Ethnicity

Washington, DC -- Preconception and prenatal cystic fibrosis (CF) carrier screening should be made available to all women of reproductive age as a routine part of obstetric care, according to a revis...

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...