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Identification and Referral of Maternal Genetic Conditions in Pregnancy

Number 643

ABSTRACT Advances in the understanding of genetic conditions reproductive technologies and improved medical and surgical care have enabled an increasing number of women with genetic conditions to achieve a normal pregnancy outcome However management of certain genetic conditions during pregnancy i...

October 2015

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Cell-free DNA Screening for Fetal Aneuploidy

Number 640

(This Committee Opinion Replaces Committee Opinion Number 545)

ABSTRACT Noninvasive prenatal screening that uses cellfree DNA from the plasma of pregnant women offers tremendous potential as a screening method for fetal aneuploidy A number of laboratories have validated different techniques for the use of cellfree DNA as a screening test for fetal aneuploidy ...

September 2015

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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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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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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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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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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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American Congress of Obstetricians and Gynecologists
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