Pregnancy in women with Noonan syndrome: report of two cases.

BACKGROUND: Noonan syndrome is similar phenotypically to Turner syndrome, accounting for one in 1000-2500 live births. Two thirds of patients have cardiac anomalies, half with pulmonary stenosis. Two cases of Noonan syndrome in pregnancy are presented, each woman with a different cardiac anomaly. CASES: The first patient sought preconception counseling for pulmonary stenosis. She conceived within a year and had a cesarean because of prolonged rupture of membranes, transverse lie, and variable decelerations. The second patient presented at 14 weeks' gestation with an unrepaired coarctation of the aorta. She had an assisted vaginal delivery at 38 weeks. CONCLUSION: Successful pregnancy was possible in women with Noonan syndrome. A coordinated multidisciplinary team approach improved the likelihood of a successful outcome.

Does cigarette smoking impair natural or assisted fecundity?

OBJECTIVES: To assess the effects of female and male smoking on natural and assisted fecundity. DESIGN: A systematic review of published studies was conducted, identifying reports using on-line and hand search techniques. INCLUDED STUDIES: Potentially relevant articles were screened for inclusion based on the following criteria: comparative study (cohort or case control) with clinical pregnancy or live birth reported among smokers and nonsmokers. EXPOSURE: Cigarette smoking. MAIN OUTCOME MEASURES: Time to conceive; conceptions per subject or per cycle; spontaneous abortion rate. RESULTS: Thirteen relevant studies of natural conception were identified. All but one demonstrated a negative association between smoking and fecundity (odds ratio [OR] for conception or live birth 0.33 to 1.0). Seven studies of IVF-GIFT yielded a common odds ratio for conception of 0.57 (95% confidence interval 0.42 to 0.78). Seven studies evaluating spontaneous abortion suggested a small increased risk among female smokers (OR 0.83 to 1.8). Twenty-one studies assessing smoking in men demonstrated no consistent effect on sperm quality. None of the four studies evaluating fertility in male smokers demonstrated significant impairment. CONCLUSION: This body of literature suggests a small but clinically significant detrimental effect of female smoking on both time to conception and spontaneous abortion risk. Variability between studies, particularly in terms of adjustment for confounding factors, undermines the strength of these conclusions. However, the consistent dose-response effect in both the spontaneous conception and abortion literature and a return to normal fecundity among exsmokers suggest a causal association. The effect of male smoking on fecundity is probably far less significant.

Randomized trial of a "stage-of-change" oriented smoking cessation intervention in infertile and pregnant women.

OBJECTIVE: To assess a "stage-of-change" oriented smoking cessation intervention for infertile and pregnant women, compared with standard of care. DESIGN: Randomized controlled trial. SETTING: Three university teaching hospitals in Hamilton, Ontario, Canada. PATIENT(S): Infertile women at their first visit to a tertiary referral infertility clinic (n = 94) and new patients seeking pre-natal care (n = 110) who had smoked >/= 3 cigarettes in the past six months. INTERVENTION(S): A three to five minute scripted intervention and booklet specific to the woman's "stage-of-change" in the smoking continuum, versus standard of care. Exhaled carbon-monoxide (CO) monitoring was used to validate exposure in both groups. MAIN OUTCOME MEASURE(S): Delta "stage-of-change" and rate of maintained cessation at 12 months post follow-up. RESULT(S): Intervention and control were similarly effective for infertile women: the rate of maintained cessation rose significantly from 4% to 24% over twelve months, with a mean delta "stage-of-change" 0.28. In prenatal women, neither approach was effective. Maintained cessation did not significantly change from 0 to 12 months (19% to 18%). Mean delta "stage-of-change" declined by -0.62. CONCLUSION(S): For infertile women, basic information describing the impact of smoking on fertility, along with exhaled CO monitoring and a more intensive intervention were both highly effective. In pregnant women neither approach was beneficial, with some evidence of post-partum relapse.

Parental origin of triploidy and D and G trisomy in spontaneous abortions.

A cytogenetic study of 15 triploid spontaneous abortuses, 12 trisomic abortuses, and their parents was carried out using the Q-banding technique. Polymorphic regions in abortus chromosomes were compared to corresponding regions of parental chromosomes to determine the origin of the extra chromosomes. Using marker chromosomes it was found that 7 triploids and only one trisomy were informative. Three triploids arose by failure to shed the second polar body during oogenesis. One triploid arose by dispermy. The other three triploids inherited an extra haploid set of chromosomes from the father, either by dispermy or by failure of the second meiotic division during spermatogenesis. The only informative trisomy, a trisomy 22, inherited the extra 22 from the mother. Chromosome polymorphisms are useful in determining the parental origin of extra chromosomes in certain cases.