Practical Obstetrics and Gynecology-2013 New York, New York

December 5 — 7, 2013

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...

Later Childbearing

FAQ060

Why is there a concern about having a child later in life? Becoming pregnant after age 35 years can present a challenge. Also, having a child later in life has certain risks. These risks may affect ...

La procreación más tarde en la vida

SP060 La fertilidad La fertilidad de todas las mujeres disminuye en cierto grado a partir de los 30 años. Después de ese momento, es posible que tarde más en quedar embarazada. La fertilidad d...

Pruebas de diagnostico de defectos congenitos

SP164 Defectos congénitos comunes Cada año, aproximadamente 1 de cada 33 bebés nace con un defecto congénito. Un defecto congénito es un problema que está presente en el momento del nacimiento...

Screening for Birth Defects

FAQ165

What is a birth defect? A birth defect is a physical problem that is present at birth. A birth defect may affect how the body looks, functions, or both. Many birth defects are mild, but some can be s...

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...

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...

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...

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 ...

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...

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...

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...

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...

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...