Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

OBJECTIVE: To study pregnancy chance in adult women with classic galactosemia and primary ovarian insufficiency. Despite dietary treatment, >90% of women with classic galactosemia develop primary ovarian insufficiency, resulting in impaired fertility. For many years, chance of spontaneous conception has not been considered, leading to counseling for infertility. But an increasing number of reports on pregnancies in this group questions whether current counseling approaches are correct. DESIGN: Multicenter retrospective observational study. SETTING: Metabolic centers. PATIENT(S): Adult women (aged >18 y) with confirmed classic galactosemia and primary ovarian insufficiency were included. INTERVENTION(S): Participants and medical records were consulted to obtain study data in a standardized manner with the use of a questionnaire. MAIN OUTCOME MEASURE(S): Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseling, and the participants' vision of fertility were evaluated. Potential predictive factors for increased pregnancy chance were explored. RESULT(S): Eighty-five women with classic galactosemia and primary ovarian insufficiency participated. Twenty-one women actively attempted to conceive or did not take adequate contraceptive precautions. Of these 21 women, nine became pregnant spontaneously (42.9%). This was higher than reported in primary ovarian insufficiency due to other causes (5%-10%). After a period of 12 months, a cumulative proportion of 27.8% of couples had conceived, which increased to 48.4% after 24 months and 61.3% after 27 months. Predictive factors could not be identified. A considerable miscarriage rate of 30% was observed (6 of 20 pregnancies). Although a substantial proportion of women expressed a child-wish (n = 28/53; 52.8%), the vast majority of participants (n = 43/57; 75.4%) considered conceiving to be highly unlikely, owing to negative counseling in the past. CONCLUSION(S): The pregnancy rate in women with classic galactosemia and primary ovarian insufficiency was higher than for women with primary ovarian insufficiency of any cause. This shifting paradigm carries significant implications for fertility counseling and potential application of fertility preservation techniques.

A new predictor of cephalopelvic disproportion?

Cephalopelvic disproportion (CPD) is a recognised obstetric problem with potential risk to both mother and infant. Identification of those mothers at risk of CPD is difficult and has concentrated in the past on such measurements as maternal shoe size and height. Our objective in this study was to examine new anthropomorphic parameters as indicators of CPD. This was a case controlled study of sixty consecutive women, and their partners, who had caesarean section performed for CPD and 60 case matched controls. Measurements included maternal and paternal head circumference, height, shoe-size, body mass index (BMI), infant weight and head circumference. Parity, gestation at delivery, and mode of onset of labour were recorded. Data were analysed using Stata Release 6. Prognostic factors were tested for association with CPD using conditional logic regression. The most important anthropomorphic risk factors for CPD were maternal head circumference in relation of height (P < 0.001), and paternal head to height ratio (P = 0.017). Head to height ratio is taken as the head circumference in centimeters divided by the height in metres. Body mass index was higher in CPD cases (maternal case mean = 27.1, control mean = 25.5; paternal case mean = 27.2, control mean = 26.2). Infant head circumference was not a predictor. Primiparity was an important independent predictor (P<0.001), regardless of the mode of onset of labour. Maternal or paternal shoe-size, induction of labour and gestation at delivery were not predictors. The risk profile for CPD which emerges is one of a tall father where both mother and father have large head-to-height ratios.