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Title Date

Screening for Tay - Sachs Disease

Number 318

(Reaffirmed 2014, Replaces No. 162, November 1995)

ABSTRACT TaySachs 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 high risk including those of Ashkenazi Jewish FrenchCanadian or Cajun descent and those with a family his...

October 2005

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Preimplantation Genetic Screening for Aneuploidy

Number 430

(Reaffirmed 2014)

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 not support a recommendation for preimplantation genetic screening for aneuploidy using fluorescence ...

March 2009

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

Number 442

(Reaffirmed 2014, 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 Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screening fo...

October 2009

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Carrier Screening for Fragile X Syndrome

Number 469

(Reaffirmed 2014, 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 3600 males and 1 in 40006000 females Approximately 1 in 250 females carry the premutation DNAbased molecular analysis is the preferred method of diagnosis for fragile X syn...

October 2010

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Update on Carrier Screening for Cystic Fibrosis

Number 486

(Reaffirmed 2014, 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 cystic fibrosis The American College of Obstetricians and Gynecologists Committee on Genetics has updated...

April 2011

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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 testing should be an informed patient choice after pretest counseling and should not be part of routine pre...

December 2012

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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Number 581

(Replaces No. 446, November 2009) (See also Practice Bulletin No. 88)

ABSTRACT Chromosomal microarray analysis is a technique that identifies chromosomal abnormalities including submicroscopic abnormalities that are too small to be detected by conventional karyotyping Like conventional fetal karyotyping prenatal chromosomal microarray analysis requires direct testin...

December 2013

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Newborn Screening and the Role of the Obstetrician-Gynecologist

Number 616

(Replaces Committee Opinion Number 481, March 2011)

ABSTRACT Newborn screening is a mandatory statebased public health program that provides all newborns in the United States with presymptomatic testing and necessary followup health care for a variety of medical conditions The goal of this essential public health program is to decrease morbidity an...

January 2015

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Hereditary Cancer Syndromes and Risk Assessment

Number 634

ABSTRACT A hereditary cancer syndrome is a genetic predisposition to certain types of cancer often with onset at an early age caused by inherited mutations in one or more genes Cases of cancer commonly encountered by obstetriciangynecologists or other obstetricgynecologic providersmdashsuch as bre...

June 2015

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American Congress of Obstetricians and Gynecologists
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