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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 karyotyping. Like conventional fetal karyotyping, prenatal chromosomal microarray analysis requires direct te...

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

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 cystic fibrosis. The American College of Obstetricians and Gynecologists' Committee on Genetics has upd...

April 2011

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4.

Newborn Screening

Number 481

(Replaces No. 393, December 2007)

ABSTRACT: Newborn screening programs are mandatory, state-based public health programs. They provide newborns in the United States with presymptomatic testing and necessary follow-up care for a variety of medical conditions for which early intervention will improve neonatal and long-term health ou...

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 females carry the premutation. DNA-based molecular analysis is the preferred method of diagnosis for frag...

October 2010

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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 screeni...

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 fluorescenc...

March 2009

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8.

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 high risk, including those of Ashkenazi Jewish, French–Canadian, or Cajun descent and those with a f...

October 2005

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