This CFTR2 resource delineates gene variants with a clear etiological role-http://ww.cftr2.org. Women with clinical cystic fibrosis are sub fertile because of tenacious cervical mucus. Males have oligospermia or aspermia from vas deferens obstruction, and 98 percent are infertile (hmad, 2013). Despite this, the North American Cystic Fibrosis Foundation estimated that 4 percent of afected women become pregnant every year (Edenborough, 1995). he endometrium and tubes express some CFTR but are functionally normal, and the ovaries do not express the CFTR gene (Eden borough, 2001). Both intrauterine insemination and in vitro fertilization can be successful for afected women (Rodgers, 2000). Several ethical considerations regarding plans for pregnancy by these women were reviewed by Wexler and colleagues (2007). One important factor is the long-term prognosis for the mother. For male infertility, Sobczynska-Tomaszewska and associates (2006) have emphasized the importance of molecular diagnosis.
he American College of Obstetricians and Gynecologists (20a17) recommends that carrier screening be ofered to all women currently pregnant or considering conception (Chap. 14, p. 289). The CDC also added cystic ibrosis to newborn screening programs (Southern, 2009) (Chap. 32, p. 614).
Pregnancy outcome is inversely related to severity of lung dysfunction. Advanced chronic lung disease, hypoxia, and frequent infections may prove deleterious. At least in the past, cor pulmonale was common, but even that does not preclude successful pregnancy (Cameron, 2005). In some women, pancreatic dyunction may cause poor maternal nutrition. Otherwise normal pregnancy-induced insulin resistance frequently results in gestational diabetes after midpregnancy (Hardin, 2005). In one study of 48 pregnancies, half had pancreatic insuiciency and a third required insulin (horpe-Beeston, 2013). Up to 25 percent of patients develop diabetes by age 20, and diabetes is most frequent with the Phe508del homozygous mutation (Giacobbe, 2012; Patel, 2015).
Cystic fibrosis per se is not afected by pregnancy (Schechter, 2013). Early reports of a deleterious efect on the course of cystic fibrosis were related to severe disease (Olson, 1997). When matched with nonpregnant women by disease severity, recent reports indicate no deleterious efects on long-term survival (Schechter, 2013).
Prep regnancy counseling is imperative. Women who choose to become pregnant require close surveillance for development of superimposed infection, diabetes, and heart failure. Serial pulmonary function testing assists management and estimating prognosis. When the FEV] is at least 70 percent, women usually tolerate pregnancy well. Emphasis is placed on postural drainage, bronchodilator therapy, and infection control.