Methylenetetrahydrofolate reductase (MTHFR) gene mutations have been implicated as risk factors for neural tube defects (NTDs). The best-characterized MTHFR genetic mutation 677C→T is associated with a 2–4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs.
Aims:To evaluate the efficacy of levonorgestrel-releasing intrauterine system (LNG-IUS, Mirena, Bayer Healthcare) in the treatment of menorrhagia caused by benign lesions of the uterus in perimenopausal women.Settings and Design:A prospective observational study was conducted to study the efficacy of levonorgestrel intrauterine device in the treatment of menorrhagia due to benign lesions of the uterus in perimenopausal women.Materials and Methods:Forty women with menorrhagia, due to benign conditions like idiopathic menorrhagia, fibroid (not more than 12 weeks size) or adenomyosis, attending our out-patient department were included in the study. All the women underwent a PAP smear, transvaginal sonography and endometrial biopsy. Endometrial carcinoma and cervical carcinoma were excluded. LNG-IUS was inserted in the postmenstrual phase. Blood loss was assessed by pictorial blood loss assessment chart (PBAC). They were followed up after 3 months, 6 months, and after 1 year.Results:Majority of the women had menstrual spotting for 3–4 months followed by infrequent menstruation, scanty menstruation or amenorrhoea. LNG-IUS was removed because of continued bleeding in two cases and was removed because of displacement in one case. It was expelled spontaneously in four cases. Thirty-three women continued to use LNG-IUS.Conclusion:LNG-IUS is a safe and effective option for women with menorrhagia due to benign lesions of the uterus in perimenopausal women.
Background: Uterine rupture in pregnancy is a rare though catastrophic complication with a high incidence of foetal and maternal morbidity. It appeared to be on the decline in recent times, prompting us to analyse the clinical picture now. The objective of the study was to study the risk factors, clinical profile and consequences of uterine rupture on maternal and perinatal outcome.Methods: A prospective observational study of 25 consecutive cases of uterine rupture was carried out between July 2013 and October 2015. All the cases of rupture uterus either referred or diagnosed after admission were included. Detailed demographic data, past and present obstetric events, time taken to reach the referral centre, the reasons for any delay, mode of presentation, type of rupture, management and maternal and foetal outcomes were analysed.Results: The incidence of rupture was 1 in 915 deliveries. Seventy-two per cent of them were referred cases. Average time to reach from referral centre was 4.3 hours, the common reasons for delay being patient factors (33%), transport problems (38%) and delayed referrals (22%). Previous caesarean section was the most common predisposing factor (56%). Sixty-four per cent of the ruptures were diagnosed clinically. Eighty-four per cent of the ruptures were complete. Sub-total hysterectomy was carried out in 14 (56%) patients. Internal iliac artery ligation (20%) and bladder repair (8%) were sometimes required. All women required blood transfusion. Perinatal mortality was seen in 76%. There was no maternal mortality.Conclusions: Uterine rupture is a cause of severe acute maternal morbidity and very high perinatal mortality. Delay in referral and diagnosis can lead to significant maternal morbidity and hysterectomy.
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