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Carrier Screening for Fragile X Syndrome

Committee Opinion Number 469, October 2010

(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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Cell-free DNA Screening for Fetal Aneuploidy

Committee Opinion Number 640, September 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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Comprehensive Sexuality Education

Committee Opinion Number 678, November 2016

ABSTRACT Current sexuality education programs vary widely in the accuracy of content emphasis and effectiveness Data have shown that not all programs are equally effective for all ages races and ethnicities socioeconomic groups and geographic areas Studies have demonstrated that comprehensive sexu...

November 2016

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Direct-to-Consumer Marketing of Genetic Testing

Committee Opinion Number 409, June 2008

Reaffirmed 2016

ABSTRACT Marketing of genetic testing although similar to directtoconsumer advertising of prescription drugs raises additional concerns and considerations These include issues of limited knowledge among patients and health care providers of available genetic tests difficulty in interpretation of g...

June 2008

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Ethical Issues in Genetic Testing

Committee Opinion Number 410, June 2008

(Reaffirmed 2014)

ABSTRACT Genetic testing is poised to play an increasing role in the practice of obstetrics and gynecology To assure patients of the highest quality of care physicians should become familiar with the currently available array of genetic tests and the tests limitations Clinicians should be able to ...

June 2008

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Family History as a Risk Assessment Tool

Committee Opinion Number 478, March 2011

(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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Hereditary Cancer Syndromes and Risk Assessment

Committee Opinion Number 634, June 2015

ABSTRACT A hereditary cancer syndrome is a genetic predisposition to certain types of cancer often with onset at an early age caused by inherited mutations in one or more genes Cases of cancer commonly encountered by obstetriciangynecologists or other obstetricgynecologic providersmdashsuch as bre...

June 2015

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Identification and Referral of Maternal Genetic Conditions in Pregnancy

Committee Opinion Number 643, October 2015

ABSTRACT Advances in the understanding of genetic conditions reproductive technologies and improved medical and surgical care have enabled an increasing number of women with genetic conditions to achieve a normal pregnancy outcome However management of certain genetic conditions during pregnancy i...

October 2015

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Management of Women With Phenylketonuria

Committee Opinion Number 636, June 2015

(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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Maternal–Fetal Surgery for Myelomeningocele

Committee Opinion Number 550, January 2013

Reaffirmed 2015

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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Newborn Screening and the Role of the Obstetrician-Gynecologist

Committee Opinion Number 616, January 2015

(Replaces Committee Opinion Number 481, March 2011)

ABSTRACT Newborn screening is a mandatory statebased public health program that provides all newborns in the United States with presymptomatic testing and necessary followup health care for a variety of medical conditions The goal of this essential public health program is to decrease morbidity an...

January 2015

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Personalized Genomic Testing for Disease Risk

Committee Opinion Number 527, June 2012

(Reaffirmed 2016)

ABSTRACT Advances in genetic technologies have led to the identification of hundreds of single nucleotide polymorphisms that are associated with a variety of complex diseases including cancer diabetes cardiovascular disease and Alzheimer disease Although personalized genomic tests that provide inf...

June 2012

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Committee Opinion Number 488, May 2011

(Reaffirmed 2015)

ABSTRACT Pharmacogenetics is the study of genetic variations in drug response that are determined by specific genes It is hoped that the use of pharmacogenetics in clinical practice may improve drug safety and decrease the rate of adverse drug reactions Given the potential applications of pharmaco...

May 2011

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Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European Jewish Descent

Committee Opinion Number 442, October 2009

(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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Screening for Tay - Sachs Disease

Committee Opinion Number 318, October 2005

(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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Spinal Muscular Atrophy

Committee Opinion Number 432, May 2009

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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The Use of Chromosomal Microarray Analysis in Prenatal Diagnosis

Committee Opinion Number 581, December 2013

(Replaces No. 446, November 2009. Reaffirmed 2015)
(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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Umbilical Cord Blood Banking

Committee Opinion Number 648, December 2015

(Replaces Committee Opinion Number 399, February 2008)

ABSTRACT Once considered a waste product that was discarded with the placenta umbilical cord blood is now known to contain potentially lifesaving hematopoietic stem cells When used in hematopoietic stem cell transplantation umbilical cord blood offers several distinct advantages over bone marrow o...

December 2015

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Update on Carrier Screening for Cystic Fibrosis

Committee Opinion Number 486, April 2011

(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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Von Willebrand Disease in Women

Committee Opinion Number 580, December 2013

(Replaces No. 451, December 2009, Reaffirmed 2015)

ABSTRACT Von Willebrand disease the most common inherited bleeding disorder among American women is a common cause of heavy menstrual bleeding and other bleeding problems in women and adolescent girls Von Willebrand disease and other inherited and acquired disorders of coagulation and hemostasis s...

December 2013

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