Recurrent hydatidiform moles: detection of a new mutation in the NLRP7 gene in the family
Mücahit Furkan BalcıÖzge Özer KayaAtakan Emre GeziciSerkan OralYaşam Kemal AkpakArda Batuhan KaradumanHamit Cetinİbrahim Gülhan
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Abstract:
Hydatidiform moles are the most common type of gestational trophoblastic neoplasia. Hyperproliferative vesicular trophoblasts and imperfect fetal development are abnormal pregnancies, and recurrent hydatidiform moles are rare. Mutations in NLRP7 are responsible for recurrent hydatidiform mole. Genetic heterogeneity has been demonstrated in patients with the NLRP7 mutation. This study presents our case with gravida 11, parity 0, histopathologically diagnosed with six hydatidiform moles and five missed abortion histories at age 35. Karyotype analyses of the unrelated couple were normal. A genetic examination revealed a novel mutation of the NLRP7 gene in the patient, his brother, and his parents. Detecting a new NLRP7 mutation in recurrent hydatidiform moles cases provides further evidence for the predetermined role of NLRP7 mutations in the pathophysiology of recurrent moles hydatidiform. Based on our findings, we hope to contribute to the literature by expanding the spectrum of recurrent pregnancy loss associated with NLRP7 mutations in patients.Keywords:
Partial Hydatidiform Mole
Introduction: Pregnancy period is crucial for the health of the mother and baby. Spontaneous abortion is the most common adverse pregnancy outcome. Spontaneous pregnancy loss is a surprisingly common occurrence with approximately 15% of all clinically recognized pregnancies resulting in pregnancy failure. Spontaneous pregnancy loss can be physically and emotionally taxing for couples, especially when faced with recurrent losses. Objective: To determine pregnancy outcome following previous spontaneous abortion and to evaluate any complication associated with previous abortion as compare to previous normal delivery. Method: A prospective and observationalstudy was done on 100 patient that include 50 patient of control group who have history of previous normal delivery and 50 patients in study group who have history of previous abortion history. All the antenatal, postnatal complications and mode of delivery were noted and compared between these two groups. Result: Shows that Pregnancy complications including threatened miscarriage, premature rupture of membranes (PROM), preterm delivery, intra uterine growth restriction (IUGR) are more commonly associated with pregnancy following history of previous abortion. Rate of caesarean section was significantly increased in women with previous spontaneous abortion and give significant p value 0.000008; Statistical analysis was carried out using Statistical Package for Social Scientists (SPSS). Conclusion: Women with a history of previous spontaneous abortion are at an increased risk of complications in the next pregnancy. So careful surveillance should be provided to every women and not to be restricted only to females with history of recurrent pregnancy loss.
Prom
Spontaneous conception
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The authors have studied a series of 2,292 pregnancies that were unselected and have calculated from this the risks of spontaneous abortion before the 28th week of the pregnancy that patients have when they come for ultrasonography for the first time in the pregnancy. They have been able to work out the risks of spontaneous abortion even when the ultrasound was normal for the time of pregnancy. The risks diminish as the pregnancy progresses and rise with the mother's age.
Early pregnancy factor
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Vacuum aspiration
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In order to study the effects of abortion on subsequent pregnancy, 13,144 secundigravidae were studied. In 879 of those women the 1st pregnancy had ended in miscarriage, in 820 it ended in abortion, in 25 in tubal pregnancy, in 7 in molar pregnancy, in 294 in premature delivery, and in 11,119 in normal delivery at term. Of the complications of early pregnancy, threatened abortion was the most common. 13.8% of the women who had miscarried previously experienced this complication, as did 9.1% of those who had had an abortion, 9.1% of those who delivered prematurely, and 3.6% of women who experienced normal deliveries. Other complications were equally common in all 4 subgroups. In the 2nd half of pregnancy, miscarriage was about twice as common among women who had had an abortion or miscarriage during their 1st pregnancy as it was in women whose 1st pregnancy was not interrupted. Furthermore, women who had miscarried or aborted the 1st pregnancy were twice as likely as women who delivered at term to give birth to infants weighing less than 2500 gm. Women who had delivered the 1st pregnancy prematurely were about 4 times as likely to have a subsequent premature delivery as were women whose 1st pregnancies ended at term. Thus it appears that interruption of a 1st pregnancy - either by abortion or miscarriage - significantly increases the risk of miscarriage in a subsequent pregnancy.
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Abstract. The frequency of pregnancy and delivery complications in women whose previous pregnancy had been terminated by a legally induced abortion is evaluated in a prospective and a retrospective study. Bleeding before 28 weeks of gestation and retention of placenta or placental tissue occurred more frequently after legal abortion than in a control group matched for age, parity, and socio‐economic status. Other pregnancy and delivery complications did not occur more frequently after legal abortion. It is of particular interest that the study could not demonstrate an increased frequency of low birth weight among women whose previous pregnancy had been terminated by legal abortion.
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Objective To evaluate the medical scale comprehensive analysis of pre pregnancy,pregnancy period to reduce natural abortion rate and birth defect. Methods Selected 200 couples who prepare pregnant,were randomly divided into 2 groups,group A( 100 couples) participated in the comprehensive analysis of medical scale determination at pre pregnancy,pregnancy ,group B( 100 couples) did not attend,followed-up for 1 year,followed-up till fetal birth if pregnancy,observed pregnancy rate,spontaneous abortion rate and the incidence of birth defects of two groups. Results In group A,the pregnancy rate was 89%,spontaneous abortion rate was 9%,in group B pregnancy rate was 80%,spontaneous abortion rate was 21. 3%,difference of pregnancy rate had no statistically significant( P 0. 05),difference of spontaneous abortion rate was statistically sigificant( P 0. 05). The incidence of birth defects in 1. 2% of A group,B group,the incidence of birth defects in 3. 2%,difference had no statistically significant between groups( P 0. 05). Conclusion Comprehensive analysis of medical scale determination at pre pregnancy,pregnancy can reduce the spontaneous abortion rate,is worthy of progress of application.
Medical abortion
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To study defects and chromosomal abnormalities of the fetus, we retrospectively analyzed results of comprehensive dynamic survey of 26,404 pregnant women aged 18-50 years old at 6 to 40 weeks of pregnancy. Of them, 25,956 (98.3%) women had physiological course of pregnancy, 448 (1.7%) women had abnormal pregnancy. For the diagnosis of fetal defects, we carried out ultrasound, biochemical, invasive and cytogenetic studies. The results of study showed that the majority of fetal defects and pathological course of pregnancy was noted in women at the age of 21-25 years old, since at this age period women have the highest number of pregnancies. At the older age, we noted a gradual decrease in the number of pregnant women, as well as the number of abnormalities of the fetus. Based on the analysis of the results obtained, we have developed an algorithm for early fetal ultrasound examination. In order to exclude non-developing pregnancy and intrauterine fetal death, as well as for early diagnosis of fetal defects, we recommend screening women in the first trimester of pregnancy.
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The outcome of pregnancy was studied in 325 patients with an induced abortion in their previous pregnancy, together with 721 control patients. The patients were matched for age, parity and social class. Smoking and unplanned pregnancies were found to be more comon among abortion patients than among the control patients. As regards pregnancy complications, bleeding during pregnancy and placental retention were found to be significantly more common in the index group. No statistical differences were noticed in gestation length, birthweight, rate of spontaneous abortion and perinatal mortality in the pregnancy following induced abortion as compared with control patients.Pregnancy outcome was studied in 325 patients with an induced abortion in the previous pregnancy, together with 721 control patients attending 10 Maternity Health Centers in Helsinki, Finland. Patients were matched for age, parity and social class. Smoking and unplanned pregnancies were found to be a more common occurrence among abortion than among control patients. In terms of pregnancy complications, bleeding during pregnancy and placental retention were found to be significantly more common in the index group as compared to the primigravid women or women with a live birth in their previous pregnancy, being roughly equal with women who had experienced spontaneous abortion. No statistical differences were noted in gestation length, birthweight, rate of spontaneous abortion and perinatal mortality in the pregnancy following induced abortion as compared with control patients.
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