Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice

Article Abstract:

A review is presented of genetic and policy issues relevant to screening carriers of the gene that causes cystic fibrosis. Cystic fibrous is a potentially fatal genetic disorder that affects 1 in 2,500 live births among North American whites of European ancestry. The disease is associated with a host of complications, including respiratory, digestive, and secretory abnormalities. If one member of a couple has mutated DNA (genetic material), the chance of having a child with cystic fibrosis is 1/396; if neither parent has mutated DNA, the chance is 1/39,200. Taking the rate of correct identification of carriers (people who carry abnormal DNA) as 85 percent, sample scenarios for couples contemplating childbearing are presented, including couples who already have a child with cystic fibrosis or who have a close relative with the disease. About 72 percent of the couples in which both are cystic fibrosis carriers can now be identified. Suggestions for screening programs for cystic fibrosis must be evaluated in light of this fact. Five guidelines, already generally accepted for widespread screening programs, can be applied to screening for cystic fibrosis. They include: voluntary and confidential screening; informed consent requirements for screening; quality control of the related laboratory work; education and counseling for those involved must be offered; and equal access to testing should be guaranteed. In most cases, couples will be interested in screening after pregnancy has already occurred. Screening is recommended by the National Institutes of Health for people with family histories of the disease; thus, obstetrician-gynecologists should take patients' genetic histories. Screening of those without family histories of cystic fibrosis should be undertaken only after better knowledge in the scientific, educational, and counseling fields has been developed. Private companies that market tests for the disease should not influence practitioners, and the public, who will ultimately benefit from screening programs, should be included in decisions about which tests doctors should offer. (Consumer Summary produced by Reliance Medical Information, Inc.)

Social aspects, Diagnosis, Genetic aspects, Genetic screening, Genetic testing, Cystic fibrosis, Prenatal diagnosis

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Shared and disparate components of the pathophysiologies of fetal growth restriction and preeclampsia

Article Abstract:

Intrauterinc growth restriction (IUGR) and preeclampsia differ in their association with maternal disease but share a similar placental pathology. It is observed that mothers who have had pregnancies complicated by preeclampsia or IUGR are at elevated later-life cardiovascular risk. A testable framework for future etiologic studies of preeclampsia and IUGR is discussed.

Health aspects, Risk factors, Fetus, Fetal growth retardation, Preeclampsia, Pregnancy, Complications of, Pregnancy complications, Medical condition overview

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