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Title Date
1.

Maternal–Fetal Surgery for Myelomeningocele

Number 550

ABSTRACT: Myelomeningocele, the most severe form of spina bifida, occurs in approximately 1 in 1,500 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 t...

January 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.

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 sel...

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.

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....

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 Gynecologists recommended that individuals of Eastern European Jewish ancestry be offered carrier screeni...

October 2009

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