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Title Date
1.

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 karyotypin...

December 2013

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2.

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...

December 2012

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3.

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...

April 2011

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4.

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...

March 2011

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5.

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...

October 2010

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6.

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...

December 2009

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7.

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 Gyneco...

October 2009

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8.

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...

May 2009

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9.

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 ...

March 2009

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10.

Screening for Tay - Sachs Disease

Number 318

(Reaffirmed 2014, 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...

October 2005

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