Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism.

We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response. The report readknowledges the importance of a correct genetic evaluation in a competent laboratory as a reliable base for treatment planning in this kind of patients.

Fetal surgery: an overview.

In utero fetal surgery interventions are currently considered in selected cases of congenital diaphragmatic hernia, cystic pulmonary abnormalities, amniotic band sequence, selected congenital heart abnormalities, myelomeningocele, sacrococcygeal teratoma, obstructive uropathy, and complications of twin pregnancy. Randomized controlled trials have demonstrated an advantage for open fetal surgery of myelomeningocele and for fetoscopic selective laser coagulation of placental vessels in twin-to-twin transfusion syndrome. The evidence for other fetal surgery interventions, such as tracheal occlusion in congenital diaphragmatic hernia, excision of lung lesions, fetal balloon cardiac valvuloplasty, and vesicoamniotic shunting for obstructive uropathy, is more limited. Conditions amenable to intrauterine surgical treatment are rare; the mother may consider termination of pregnancy as an option for many of them; treatment can be lifesaving but in itself carries risks to both the infant (preterm premature rupture of the membranes, preterm delivery) and the mother. This makes conducting prospective or randomized trials difficult and explains the relative lack of good-quality evidence in this field. Moreover, there is scanty information on long-term outcomes. It is recommended that fetal surgery procedures be performed in centers with extensive facilities and expertise. The aims of this review were to describe the main fetal surgery procedures and their evidence-based results and to provide generalist obstetricians with an overview of current indications for fetal surgery.

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study.

PURPOSE: Neural tube defects, including spina bifida and anencephaly, are the second most common birth defects with an incidence in Italy of 0.4-1/1,000. Information on factors playing a role in the pathogenesis of spina bifida is based on populations with different exposures, lifestyle, social and cultural habits compared to Italian people. Our objective was to fill this gap by using data from a case-control interview study carried out at the G. Gaslini Children's Hospital, Genoa, from 2000 to 2008. METHODS: We surveyed questionnaires from 133 case mothers and 273 control women providing information on periconceptional risk factors. Univariate and multivariate logistic regression analyses were used to estimate risks by odds ratios (ORs) and 95% confidence intervals (95% CIs). RESULTS: Univariate results suggest that birth order, low maternal educational level, age, smoking habits, alcohol consumption, high caffeine intake, lack of folate supplementation, low and high calorie diet, occasional consumption of fruit and vegetables, high emotional stress, and environmental pollution are associated with an increased spina bifida risk. Nevertheless, high caffeine intake (OR = 10.82; 95% CI, 3.78-31), low calorie diet (OR = 5.15; 95%CI, 1.79-14), occasional consumption of fruit and vegetables (OR = 3.38; 95% CI, 1.67-6.82), alcohol consumption (OR = 3.05; 95% CI, 1.24-7.50) and, above all, lack of folate supplementation at any time of pregnancy (OR = 20.54; 95% CI, 5.41-77) mainly determined spina bifida risk in the multivariate analysis. CONCLUSION: Our findings point out that a common underlying mechanism, a disturbed folate/homocysteine metabolism, may be causative for the burden of spina bifida in the Italian population.

Stepwise sequential screening for trisomy 21 in assisted reproduction pregnancies.

We offered a modified stepwise sequential integrated screening for Down syndrome to 72 singleton and 16 twin pregnancies obtained with assisted reproductive techniques, observing no cases of trisomy 21 and obtaining a false positive rate of 10% in singleton and 7% in twin pregnancies. In our population, this approach for regulating access to invasive karyotyping can avoid a substantial number of unnecessary procedures, comparing favourably with current practice even in spontaneous pregnancies.

Association between birth weight and first-trimester free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A.

STUDY OBJECTIVE: To assess the relationship between first-trimester maternal serum PAPP-A and free beta-hCG and birth weight. DESIGN: Observational study. SETTING: Teaching hospital. PATIENT(S): Singleton pregnancies (n = 1,630) at 10-14 weeks of gestation. INTERVENTION(S): Fluorimetric immunoassays for maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta-hCG. MAIN OUTCOME MEASURE(S): Customized birth weight percentiles, calculated taking into account maternal height, weight, ethnic origin, parity, smoking status, and fetal gender. RESULT(S): There was a significant positive correlation between birth weight and PAPP-A, but not free beta-hCG levels. Maternal serum levels of PAPP-A were significantly lower in small-for-gestation (SGA) newborns than in control subjects and were significantly higher in large-for-gestation (LGA) newborns than in control subjects. Maternal serum free beta-hCG levels were lower in pregnancies complicated by pre-eclampsia than in normotensive ones. Multivariable analysis found PAPP-A to be an independent predictor of absolute birth weight, SGA, and LGA. Free beta-hCG was found to be an independent predictor of gestational hypertension and pre-eclampsia. Neither of the two markers was associated with preterm delivery. CONCLUSION(S): Maternal serum PAPP-A levels in the late first trimester of pregnancy are associated with subsequent fetal growth (including both physiologic variation and abnormal growth), and decreased free beta-hCG is more predictive of hypertensive disorders of pregnancy.

Outcomes of the first midwife-led birth centre in Italy: 5 years' experience.

OBJECTIVE: To assess the experience of the first 5 years of the first midwife-led birth centre (MLBC) in Italy. STUDY DESIGN: Data were prospectively collected to analyse the first 5 years' experience of the MLBC. MLBC is located alongside a University hospital maternity unit and it offers care to women with a straightforward pregnancy and midwives take primary professional responsibility for care. Women with maternal diseases, complicated obstetric history, height < 150 cm, maternal age > 45, or multiple pregnancy were excluded. Transfer was request in case of antenatal, intrapartum and postpartum pathological conditions. RESULTS: During the 5-year period (1 January 2001-31 December 2005), 1,438 low-risk women were admitted in labour to the MLBC. Of these, 203 (14.1%) were transferred during labour to consultant care (138 because of pathologies and 65 because of request of epidural analgesia). Among the transfers, the caesarean sections were 87, corresponding to 6.1% (87/1,438) of the total of women admitted to MLBC, while the operative vaginal deliveries were 14, corresponding to 1.0% (14/1,438) of the total of women admitted to MLBC. Among women who gave birth in the MLBC, episiotomy rate was 17.1%. CONCLUSIONS: In Italy, in the passed 10 years, the caesarean section rate reached 60%, in some regions. According to our data, the first 5 years of activity of the first MLBC in Italy had been associated with a low rate of medical interventions during labour and birth, with high rates of spontaneous vaginal birth and without signs of complications. We hope that this experience could be taken as a model to improve the quality of maternity care in Italy.

Correlation between first-trimester uterine artery Doppler indices and maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein A.

OBJECTIVE: To assess the correlation between first-trimester uterine artery Doppler measurements and maternal serum levels of free beta-hCG and pregnancy-associated plasma protein A (PAPP-A). DESIGN: Observational study. SETTING: Teaching hospital. PATIENT(S): Four hundred thirty-three women at 10-14 weeks of gestation. INTERVENTION(S): Doppler ultrasound of the uterine arteries. Fluorimetric immunoassays for free beta-hCG and PAPP-A. MAIN OUTCOME MEASURE(S): Uterine artery mean resistance index (RI), pulsatility index (PI), and number of early diastolic notches. Maternal serum levels of free beta-hCG and PAPP-A. RESULT(S): There were 401 uncomplicated pregnancies. In this group, free beta-hCG and PAPP-A did not significantly correlate with uterine artery RI or PI (r values between -0.089 and 0.029, all nonsignificant). Free beta-hCG and PAPP-A levels did not significantly change with the number of notches. Uterine artery resistance and PAPP-A levels were independently correlated with birth weight. CONCLUSION(S): Preliminary evidence suggests that first-trimester uterine artery Doppler measurements do not correlate with maternal serum levels of free beta-hCG and PAPP-A. This may allow their combined use in multivariate screening for pregnancy complications.

A randomized comparison of suturing techniques for episiotomy and laceration repair after spontaneous vaginal birth.

STUDY OBJECTIVE: To compare the continuous knotless technique of perineal repair with the interrupted method after spontaneous vaginal birth DESIGN: A randomized controlled trial. DESIGN CLASSIFICATION: Canadian Task Force Classification I. SETTING: This study was undertaken in a university hospital with more than 2200 deliveries per year. The static population of this district includes a wide range of socioeconomic classes and is predominately white. PATIENTS: From May 1 to November 19, 2003, 214 primiparous women with a second-degree perineal tear or episiotomy were randomly allocated to either the continuous knotless technique (CKT; n=107) or the interrupted technique (IT; n=107) suturing method. INTERVENTIONS: The interrupted technique (IT) involves placing 3 layers of sutures whereas the continuous knotless technique (CKT) involves reapproximating vaginal trauma, perineal muscles, and skin with a loose, continuous, nonlocking technique. MEASUREMENTS AND MAIN RESULTS: The primary outcomes of the study were perineal pain (evaluated by visual analogue scale) at 48 hours and day 10 and dyspareunia 3 months after delivery. Secondary outcomes included suture removal, wound dehiscence, analgesia use up to 48 hours, and satisfaction with repair established at 3 and 12 months after childbirth. At day 10, 19 women had dropped out of the study. Significantly fewer women reported pain at 10 days with the CKT than with the IT (32.3% vs 60.4%; p<.001). Analgesia use up to 48 hours postpartum was less in the CKT group than in the IT group (33.6% vs 54.2%; p<.05). No difference was found in superficial dyspareunia at 3 months for the CKT versus the IT group. CONCLUSION: The use of a continuous knotless technique for perineal repair is associated with less short-term pain than techniques with interrupted sutures.

Correlation between first trimester fetal bone length and maternal serum pregnancy-associated plasma protein-A (PAPP-A).

BACKGROUND: Pregnancy-associated plasma protein-A (PAPP-A) is produced by the embryo and placenta during pregnancy, and its maternal serum concentrations are related to subsequent fetal growth. Evidence from animal models and in vitro experiments suggests that PAPP-A is particularly involved in the regulation of bone development. The aim of this study was to assess the correlation between late first trimester fetal bone length and maternal serum levels of PAPP-A. METHODS: In a cross-sectional observational study, ultrasound measurements of fetal long bones and fluorimetric immunoassays for maternal serum PAPP-A were performed in 514 singleton pregnancies at 10-14 weeks of gestation. RESULTS: There were 501 uncomplicated pregnancies. There were significant correlations between PAPP-A values and length of humerus, femur and tibia [r values 0.12 (P = 0.01), 0.11 (P = 0.01) and 0.10 (P = 0.03), respectively]. The association with the length of ulna and foot did not reach statistical significance (r values 0.08 and -0.03, respectively). CONCLUSIONS: Maternal serum PAPP-A levels at 10-14 weeks of gestation are significantly associated with the length of fetal long bones such as humerus, femur and tibia. This provides further evidence that PAPP-A may be involved in the regulation of bone development.