Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.

Mutations in the gene Indian Hedgehog (IHH) that cause Brachydactyly A-1 (BDA1) have been restricted to a specific region of the N-terminal active fragment of Indian Hedgehog involving codons 95, 100, 131, and 154. We describe two novel mutations in codons 128 and 130, not previously implicated in BDA1. Furthermore, we identified an independent mutation at codon 131 and we also describe a New Zealand family, which carries the 'Farabee' founder mutation and haplotype. All of the BDA1 mutations occur in a restricted area of the N-terminal active fragment of the IHH and are in contrast to those mutations causing an autosomal recessive acrocapitofemoral dysplasia, whose mutations are located at the distal N- and C-terminal regions of IHH-N and are physically separated from the BDA1-causing mutations. The identification of multiple independent mutations in codons 95, 100, and now in 131, implicate a discrete function for this region of the protein. Finally, we present a clinical review of all reported and confirmed cases of BDA1, highlighting features of the disorder, which add to the spectrum of the IHH mutations.

Sleep duration and quality in healthy nulliparous and multiparous women across pregnancy and post-partum.

BACKGROUND: Longitudinal studies of sleep during normal pregnancy and post-partum are rare, and interpretation of the findings is often hampered by methodological issues. Consequentially, there is still limited information on what constitutes normal sleep quality and quantity across pregnancy and early post-partum, for both nulliparous and multiparous women. AIMS: To quantify the change and variability in sleep duration and quality across pregnancy and post-partum for healthy nulliparous and multiparous women. METHODS: Nineteen women (eight nulliparous and 11 multiparous) wore an actigraph and completed a sleep diary to objectively measure sleep for seven nights during the second trimester, one week prior to delivery, and at one and six weeks post-partum. Mixed model analysis of variance and logistic regression were used to investigate changes in sleep across this timeframe. RESULTS: The largest changes in sleep occurred in the first week post-partum (1.5 h less sleep than during pregnancy, three times more sleep episodes in 24 h, 70% of women regularly napping during the day, and greatest day-to-day variability in sleep). Compared to multiparas, nulliparas generally had less efficient sleep, spent more time in bed and had greater wake after sleep onset in the second trimester, and spent less time in bed and had fewer sleep episodes a day at one week post-partum. CONCLUSIONS: These changes should be used to inform women about the extent of change in sleep, particularly early post-partum, and to help health-care providers identify women experiencing severe sleep loss and disruption and discuss possible coping strategies with them.

Women's health 18 years after rupture of the anal sphincter during childbirth: I. Fecal incontinence.

OBJECTIVE: We studied the long-term outcome after an anal sphincter tear. STUDY DESIGN: From a cohort of 4569 women who gave birth in 1982 to 1983, we identified 445 (9.7%) who sustained a sphincter tear and 445 controls. Eighteen years after the delivery, we mailed them a questionnaire and graded fecal incontinence with the Wexner score, a summary of incontinence to flatus, liquid, or solid stools; need to wear a pad; and lifestyle alterations. We predefined severe incontinence as a score above 4 of 20. RESULTS: Five hundred forty of 890 women (61%) returned the questionnaire. Severe fecal incontinence was reported by 34 of 259 women (13.1%) after a sphincter tear and 22 of 281 controls (7.8%) (risk ratio 1.7, 95% confidence interval 1.0 to 2.8). Only 6.4% of the reports of fecal incontinence were attributable to a sphincter tear. CONCLUSION: Fecal incontinence is frequently reported, even by women who have not sustained an anal sphincter tear. Only a small fraction of fecal incontinence can be attributed to sphincter tears.

Women's health 18 years after rupture of the anal sphincter during childbirth: II. Urinary incontinence, sexual function, and physical and mental health.

OBJECTIVE: We studied maternal health 18 years postpartum in women having sustained an anal sphincter tear and controls. STUDY DESIGN: We assessed symptoms with the short form of the urogenital distress inventory, the female sexual function index, and physical and mental health with the Short Form-12 summary scales. RESULTS: Women with a sphincter tear had no increased risk of urinary symptoms (54 of 251, 22%, versus 51 of 273, 19%, risk ratio 1.2, 95% confidence interval 0.8 to 1.6) or sexual symptoms (84 of 223, 38%, versus 90 of 230, 39%, risk ratio 1.0, 95% confidence interval 0.8 to 1.2). Their physical health was also similar to controls (mean score +/- SD, 47 +/- 7 versus 47 +/- 6), whereas their mental health was slightly lower (score 45 +/- 6 versus 46 +/- 6, difference 1, 95% confidence interval 0 to 2, P = .05). CONCLUSION: Women who sustained an anal sphincter tear have no more urinary or sexual symptoms 18 years after delivery.

Caesarean section in term nulliparous women at Wellington Hospital in 2001: a regional audit.

AIMS: The aims of this audit were to determine the frequency of caesarean section (CS) in the Wellington region for term nulliparous women, to evaluate the local demographic and clinical factors associated with CS, and to assess the quality of clinical care. METHODS: Nulliparous women with singleton live pregnancies and a gestational age greater than and equal to 36 weeks who had a CS in Wellington Hospital during 1 January 2001 to 30 June 2001 were identified using a computerised database. The Hospital records were reviewed. Demographic and clinical factors associated with CS were analysed and assessed against standards from the literature. RESULTS: A total of 743 women with a singleton live pregnancy greater than and equal to 36 weeks delivered during the period. 209 women met the criteria and 201 files were available. The estimated corrected CS rate was 27%. Thirty-six women (5%, 36/743) had an elective CS, and 165 (22%, 165/743) had an emergency CS. Dystocia (48%), suspected fetal compromise (23%), and malpresentation (20%) represented the most common indications for CS. A significant proportion of CS were performed without meeting the standards. CONCLUSIONS: In term nulliparous women, the indications for CS and the compliance with recognised standards from the literature were very similar to those observed in other industrialised countries.

Red blood cell iso-immunisation in the Wellington area of New Zealand: the case for antenatal prophylaxis.

The present study aimed to calculate the rate of Rhesus D iso-immunisation during pregnancy in Wellington, New Zealand and to identify the timing of iso-immunisation. The notes of all women and their babies with positive antenatal anti-D antibody screens during the period 1994-2002 at the regional reference laboratory (Wellington Blood Transfusion Service) were reviewed to identify the antibody titre and the stage of pregnancy that the antibodies developed. Twelve percent of all tested pregnant women were Rhesus D negative and the annual immunisation rate during pregnancy was 1.4%. Sensitisation during the third trimester occurred in 50% of these women. Sensitisation in the third trimester was more common in primigravid women (87%) than in multiparous women (27%).

Pregnancy loss rate following routine genetic amniocentesis at Wellington Hospital.

AIMS: To determine the institutional pregnancy loss rate following second-trimester genetic amniocentesis. METHODS: Data from 293 consecutive women who had routine genetic amniocentesis at Wellington Hospital from 1 January to 31 December 2001 were collected. The primary outcome measure was pregnancy loss rate up to 6-weeks post-procedure. Secondary outcomes were pregnancy loss after 6 weeks and culture failure. RESULTS: Complete information on the pregnancy outcome was obtained for 269 of 293 pregnancies (92%); corresponding to 275 procedures, including two twin pregnancies and four repeat amniocentesis for culture failure (1.3%). There were two miscarriages within 6 weeks of amniocentesis; giving a pregnancy loss rate of 2/269 pregnancies (0.74 %), or 2/275 amniocentesis procedures (0.73%). Of these pregnancies, one fetus had 'trisomy 21'-giving a corrected pregnancy loss rate within 6 weeks of amniocentesis of 1/269 (0.37%) pregnancies or 1/275 (0.36%) amniocentesis procedures. The pregnancies lost after 6 weeks of amniocentesis was three in 269 pregnancies (1.1%); including one neonatal death at 31 weeks due to a lethal congenital anomaly, and two fetal deaths in utero (one at 23 weeks with a non-lethal congenital anomaly and a normal karyotype, and the other at 27 weeks from toxoplasmosis). CONCLUSIONS: The pregnancy loss rate from amniocentesis and the culture failure rate in Wellington Hospital (using modern techniques) are similar to rates found in recently published studies.