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Cystic Fibrosis and Reproduction: Genetics, Fertility, and Family Planning

Cystic fibrosis (CF) is an autosomal recessive disorder (CFTR mutations). Reproductive implications differ by sex and require specialized counseling.

Inheritance

Child with CF = both parents carriers (1:4 risk per pregnancy).
Carrier frequency: ~1/25 Caucasians, 1/46 Hispanics, 1/65 African Americans, 1/90 Asians.

Fertility

Pregnancy Considerations

Maternal: Increased caloric needs, glucose monitoring (CFRD), pulmonary function decline risk, antibiotic safety.
Fetal: Carrier testing for partner; if both carriers → prenatal diagnosis (CVS/amnio).

Genetic Counseling

Essential before conception. Discuss carrier screening for partner, prenatal/preimplantation options, and life expectancy/quality of life with modern CFTR modulators (e.g., elexacaftor/tezacaftor/ivacaftor).

Age 15 Pregnancy

Biologically possible but medically and psychosocially complex. Multidisciplinary team (CF clinic, OB, genetics, social work) required.

Toddler Health - Related Articles

Sex	Fertility Status	Mechanism	Options
Male	98% azoospermic (CBAVD)	Absent vas deferens; spermatogenesis normal	TESE/ICSI (testicular sperm extraction + intracytoplasmic sperm injection)
Female	Reduced (thick cervical mucus, irregular cycles, malnutrition)	CFTR dysfunction in cervix; nutritional status	Ovulation induction, IUI/IVF; optimize nutrition, glucose control