Summary. The gynaecological and obstetric management of women with inherited coagulation disorders requires close collaboration between obstetrician/ gynaecologists and haematologists. Ideally these women should be managed in a joint disciplinary clinic where expertise and facilities are available to provide comprehensive assessment of the bleeding disorder and a combined plan of management. The haematologist should arrange and interpret laboratory tests and make provision for appropriate replacement therapy. These guidelines have been provided for healthcare professionals for information and guidance and it is also intended that they are readily available for women with bleeding disorders.
OBJECTIVE SMART-GDM examined whether Habits-GDM, a smartphone application (app) coaching program, can prevent excessive gestational weight gain (EGWG) and improve glycemic control and maternal and neonatal outcomes in gestational diabetes mellitus (GDM). RESEARCH DESIGN AND METHODS In this randomized controlled trial, women diagnosed with GDM between 12 and 30 weeks were randomly assigned to usual care (control) or to additional support from Habits-GDM that integrated dietary, physical activity, weight, and glucose monitoring (intervention). The primary outcome was the proportion of participants with EGWG. Secondary outcomes included absolute gestational weight gain (GWG), glycemic control, and maternal, delivery, and neonatal outcomes. RESULTS In total, 340 women were randomized (170 intervention, 170 control; mean ± SD age 32.0 ± 4.2 years; mean BMI 25.6 ± 5.6 kg/m 2 ). There were no statistically significant differences in the proportions of women with EGWG, absolute GWG, or maternal and delivery outcomes between experimental groups. Average glucose readings were lower in the intervention group (mean difference −0.15 mmol/L [95% CI −0.26; −0.03], P = 0.011) as were the proportions of glucose above targets (premeal: 17.9% vs. 23.3%, odds ratio 0.68 [95% CI 0.53; 0.87], P = 0.003; 2-h postmeal: 19.9% vs. 50%, 0.54 [0.42; 0.70], P < 0.001). When regarded as a composite (although not prespecified), the overall neonatal complications (including birth trauma, neonatal hypoglycemia, hyperbilirubinemia, respiratory distress, neonatal intensive care unit admission, and perinatal death) were significantly lower in the intervention group (38.1% vs. 53.7%, 0.53 [0.34; 0.84], P = 0.006). CONCLUSIONS When added to usual care, Habits-GDM resulted in better maternal glycemic control and composite neonatal outcomes (nonprespecified) but did not reduce EGWG among women with GDM.
Hemophilia is a bleeding disorder with X-linked inheritance. Current prenatal diagnostic methods for hemophilia are invasive and pose a risk to the fetus. Cell-free fetal DNA analysis in maternal plasma provides a noninvasive mean of assessing fetal sex in such pregnancies. However, the disease status of male fetuses remains unknown if mutation-specific confirmatory analysis is not performed. Here we have developed a noninvasive test to diagnose whether the fetus has inherited a causative mutation for hemophilia from its mother. The strategy is based on a relative mutation dosage approach, which we have previously established for determining the mutational status of fetuses for autosomal disease mutations. In this study, the relative mutation dosage method is used to deduce whether a fetus has inherited a hemophilia mutation on chromosome X by detecting whether the concentration of the mutant or wild-type allele is overrepresented in the plasma of heterozygous women carrying male fetuses. We correctly detected fetal genotypes for hemophilia mutations in all of the 12 studied maternal plasma samples obtained from at-risk pregnancies from as early as the 11th week of gestation. This development would make the decision to undertake prenatal testing less traumatic and safer for at-risk families. (Blood. 2011;117(13): 3684-3691)
The aim of the study was to review the complications, management and outcome of pregnancy in carriers of haemophilia over a 10-year period following the introduction of a multidisciplinary management guideline. Comparison was made to a 10-year cohort prior to implementation of the guidelines. A retrospective review of case notes of carriers of haemophilia (41 haemophilia A, 12 haemophilia B) who had received obstetric care at the Royal Free Hospital between 1995 and 2005 was conducted. There were 90 pregnancies (65 live births, 13 miscarriages, 12 terminations). Prenatal testing was taken up in 97% (63/65) of pregnancies where the mother was known to be a carrier of haemophilia. The majority (71%; 46/65) chose only to have non-invasive fetal sex determination. Seventeen (26%) had invasive testing (13 primarily for haemophilia and four primarily for chromosomal abnormalities). Termination of pregnancy was opted for in 67% (6/9) of pregnancies affected with haemophilia. Pregnancy was accompanied by a marked rise in factor VIII levels compared to only a small rise in factor IX levels. Invasive intrapartum monitoring techniques and instrumental deliveries were avoided in all pregnancies known to be at risk of haemophilia. Regional block was performed in 25 pregnancies for labour/delivery with no complications. The caesarean section rate was 47%. The incidence of primary and secondary postpartum haemorrhage was 19% and 2%, respectively. There were two neonatal head bleeding complications associated with prolonged labour or instrumental delivery. Availability of management guideline and care provided in a multidisciplinary approach can help to minimize bleeding complications in carriers of haemophilia and their newborns.
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