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Title Date
1.

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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2.

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 histories including the family history questionnaire or checklist and the pedigree The screening tool selecte...

March 2011

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3.

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 responsible for the conversion of phenylalanine to tyrosine and elevated levels of Phe and Phe metabolite All wome...

December 2009

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4.

Maternal–Fetal Surgery for Myelomeningocele

Number 550

ABSTRACT Myelomeningocele the most severe form of spina bifida occurs in approximately 1 in 1500 births in the United States Fetuses in whom myelomeningocele is diagnosed typically are delivered at term and are treated in the early neonatal period A recent randomized controlled trial found that fe...

January 2013

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5.

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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6.

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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7.

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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8.

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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American Congress of Obstetricians and Gynecologists
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