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Committee Opinion Number 720, September 2017

(Replaces Committee Opinion Number 550, January 2013)

ABSTRACT: Myelomeningocele, a severe form of spina bifida, occurs in approximately 1 in 3,000 live births in the United States. The extent of disability is generally related to the level of the myelomeningocele defect, with a higher upper level of lesion generally corresponding to greater deficits. Open maternal–fetal surgery for myelomeningocele repair is a major procedure for the woman and her affected fetus. Although there is demonstrated potential for fetal and pediatric benefit, there are significant maternal implications and complications that may occur acutely, postoperatively, for the...


Committee Opinion Number 640, September 2015

(This Committee Opinion Replaces Committee Opinion Number 545) (Reaffirmed 2017)

ABSTRACT: Noninvasive prenatal screening that uses cell-free 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 cell-free DNA as a screening test for fetal aneuploidy. All tests have a high sensitivity and specificity for trisomy 18 and trisomy 21, regardless of which molecular technique is used. Women whose results are not reported, indeterminate, or uninterpretable (a “no call” test result) from cell-free DNA screening should receive further genetic counseli...


Committee Opinion Number 636, June 2015

(Replaces Committee Opinion Number 449, December 2009) Reaffirmed 2017

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 treatment for PKU is the dietary restriction of Phe, which results in decreased blood Phe levels. Lifelong dietary restriction and therapy improves quality of life in patients with PKU and should be encouraged. Genetic counseling is recommended for all reproductive-aged women with PKU, and sh...


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 selected should be tailored to the practice setting and patient population. It is recommended that all women receive a family history evaluation as a screening tool for inherited risk. Family history information should be reviewed and updated regularly, especially when there are significant changes to f...


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