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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.

Cell-free DNA Screening for Fetal Aneuploidy

Number 640

(Published Electronically Ahead of Print on June 26, 2015)
(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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3.

Family History as a Risk Assessment Tool

Number 478

(Reaffirmed 2015)

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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4.

Management of Women With Phenylketonuria

Number 636

(Replaces Committee Opinion Number 449, December 2009)

ABSTRACT Phenylketonuria PKU is an autosomal recessive disorder of phenylalanine Phe metabolism characterized by deficient activity of the hepatic enzyme phenylalanine hydroxylase Increased blood Phe levels are toxic to a variety of tissues particularly the developing fetal brain The mainstay of t...

June 2015

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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.

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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9.

Spinal Muscular Atrophy

Number 432

Reaffirmed 2014

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 overall weakness In current practice patients with a family history of SMA are being offered carrier screen...

May 2009

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10.

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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11.

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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