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• W1991566750 abstract "Neurofibromatosis type 1 (NF1) is one of the most common inherited genetic disorders with an incidence of 1/2,500 to 1/3,300 live births. The disease is caused by a mutation in NF1, a tumor suppressor gene on 17q11.2 coding for neurofibromin, or by a microdeletion involving the NF1 and its surrounding region. NF1 is an autosomal dominant condition with complete penetrance after childhood. Almost half the cases result from a de novo mutation, while the others inherit the altered gene from an affected parent. The disease is marked by poor genotype–phenotype correlation and high inter- and intra-familial variability. Therefore genetic counseling for affected individuals is hampered by the difficulty in forecasting the clinical outcome for future offspring. Prenatal testing can be carried out if the parental mutation is known, or if there are multiple affected family members, and linkage has been established within the family; such testing is useful for establishing the presence of the parental mutation in the fetal DNA, but, as noted, cannot make any prediction about disease severity [Origone et al., 2000; Terzi et al., 2009]. Pregnancy has always been considered a critical time for women with NF1 because of reports of increased complications during gestation arising from pre-eclampsia, preterm labor, IUGR, hypertension, oligohydramnios, and spontaneous abortion and/or stillbirth [Blickstein and Lancet, 1987; Sharma et al., 1991; Segal et al., 1999]. Furthermore, case reports described the association between pregnancy and HELLP syndrome [Hagymásy et al., 1998; Agarwal et al., 2003], diagnosis of malignant peripheral nerve sheath tumor (MPNST) [Posmaa et al., 2003; Kellogg and Watson, 2010; Nelson et al., 2010] and the occurrence of pheochromocytoma [Liu et al., 1996]. Although Dugoff and Sujansky [1996] presented a large study of pregnancy in 105 women, including data from 247 gestations and noted a greater cesarean rate than in the general population, they did not find an increased incidence of any of these complications. However they did describe the growth of new neurofibromas and the enlargement of existing neurofibromas in more than the half. Although the majority of NF1 pregnant women did not report complications, some investigators proposed special monitoring in specific situations [Chetty et al., 2011]. Here we describe our experience in the management of pregnancies in women with NF1, and their attitude towards prenatal diagnosis. We included 43 women with a total of 79 pregnancies. Eight of the women (18.6%) were referred for care during the entire gestational period, while the other 35 women had their pregnancies detected before joining our program; for them we obtained data from a review of their medical records and through personal interviews. Among these 79 pregnancies, 65 were carried to term while the other 14 resulted in five first trimester spontaneous abortions, seven elective terminations (not related to concerns about NF1), and two therapeutic abortions after prenatal diagnosis through chorionic villus sampling (CVS). Two of the 65 full term pregnancies were twins, for a total of 67 live births. For women visiting our center before and during their pregnancies, we set up a model based on a set of preconceptional multispecialized evaluations that we felt were a prerequisite for a proper personalized management of pregnancy in women with NF1. The multidisciplinary group was composed of medical geneticists, coordinators of the team responsible for diagnosis and follow-up of NF1 patients, gynecologists trained in pregnancy management for women with chronic diseases, the prenatal diagnosis team and a psychologist with particular experience in issues related to prenatal diagnosis. Its work began in the preconceptional period to establish the physical condition of each woman with particular attention to complications that require special monitoring during pregnancy (i.e., hypertension, plexiform neurofibromas, and orthopedic complications) and to evaluate reproductive options, including prenatal and pre-implantation diagnosis. For women interested in prenatal diagnosis, we offered a specific genetic counseling session aimed at the feasibility of a prenatal genetic test, explaining genetic analysis and discussing the attitude of each woman toward prenatal diagnosis. This assessment allowed us to select women who needed a personalized follow up during pregnancy, in addition to the baseline monitoring performed for all. Baseline follow up included monthly gynecologic visits, routine blood examinations, serial blood pressure measurements and standard fetal ultrasound (US) monitoring (first trimester, second trimester, morphologic US at 20th gestational week, third trimester); prenatal diagnosis by CVS was discussed and performed when requested. With respect to the eight women cared for the entire gestational period, preconceptional baseline evaluation was integrated with further examinations in three women. In one, endocrine and neuroradiological evaluations were necessary due to the presence of a double pituitary gland [Filopanti et al., 2011]; in the second case an abdominal MRI was performed to rule out recurrence of a pelvic plexiform neurofibroma, previously removed surgically due to malignant degeneration. In the last case the woman needed a reassessment of antihypertensive therapy. We noted few complications. In 5 of 65 pregnancies carried to term (7.7%) threatened abortion in the first trimester was reported. Thirty-one of the 65 women (47.7%) reported an increased number and/or size of neurofibromas. In one, a new neurofibroma grew at the pancreatic tail. Two other women (3.1%) noted the appearance of neurofibromas for the first time during pregnancy. In 7 of the 33 pregnancies (21.2%) in which neurofibromas increased in number or size, or appeared for the first time, the neurofibromas shrank after delivery. One woman had an increased number of CALS; in three women (4.6%) blood pressure was higher than usual (but still in the normal range); in one we found proteinuria and one had a placental abruption at the 8th month of gestation. Furthermore, in the woman with a double pituitary gland, we detected a peripartum transient gestational diabetes insipidus that completely resolved after childbirth; her clinical history is described elsewhere [Filopanti et al., 2011]. Of the 65 full term pregnancies, 45 (69.2%) ended with a vaginal delivery, while 20 (30.8%) needed a cesarean. Seven of the 45 vaginal deliveries developed obstetrical complications, detailed in Table I. Except for the pregnancy with oligohydramnios, the remaining six dystocic deliveries required forceps. In Table II the indications for cesarean are listed. Dugoff and Sujansky [1996] observed a cesarean rate of 36%. The 30.8% cesarean rate in our study is slightly lower, even though it remains higher than in the general population (9.1–24.8%) [Shiono et al., 1987; ICHSC, 2009]. Of the 20 cesareans, three were performed because of maternal complications related to NF1: the onset of sciatic nerve inflammation resulting from previous surgical treatment of a pelvic neurofibroma, the presence of a vertebral prosthesis for scoliosis correction, and a double pituitary gland. Merging data from vaginal and cesarean deliveries, we noted a relatively high incidence of fetopelvic disproportion of 10.8% (7/65 pregnancies), which, worldwide, is 4.6% [WHO 2005]. Macrocephaly related to NF1 in the newborn was the major cause of this increased rate, as five of seven babies presented with it. Mildly premature delivery (between 32 and 37 weeks gestation), IUGR (defined as neonatal weight <10%), perinatal distress and congenital hypothyroidism were observed as neonatal complications. Their frequencies (Table III) did not differ from general population, except for IUGR, observed in 20.9% of our subjects compared to 10–15% in the general population [Botero and Lifshitz, 1999]. Nevertheless this increase did not appear to correlate with the presence of the disease in newborns and further studies are needed to determine whether it might be related to Neurofibromatosis in the mother. With respect to prenatal diagnosis, 24 of the 43 women (55.8%) had at least one pregnancy in recent years when prenatal diagnosis was available. Eight out of 24 (33.3%) had not yet been referred to our center, and had not been informed about the opportunity for prenatal diagnosis; 10/24 (41.7%) were informed about this option but decided not to undergo it; 6/24 (25%) were interested in prenatal diagnosis for NF1. In 4/6 women we could not proceed as the familial mutation was not known; for two women, CVS was carried out at the 12th gestational week. In the first case the woman had only one pregnancy and fetal DNA analysis showed the inheritance of the maternal mutation; the pregnancy was terminated. In the second case the woman had two subsequent pregnancies, and in both the mutation was transmitted. Only the first pregnancy was terminated (Fig. 1). Attitude towards prenatal diagnosis in NF1 women followed in our Center. We observed a different attitude towards prenatal diagnosis in women with a family history (mother or father and/or other family members affected) than in women who represented sporadic cases. Indeed we noted that 90% (9/10) of women not interested in prenatal diagnosis had a familiarity with NF1 because of one parent and/or other affected relatives; in contrast, five of six (83%) women interested in CVS had no parents suffering from NF1. In the former group, familiarity with the disease, coupled with increased knowledge and a feeling that complications can be managed, were reasons for not wishing prenatal diagnosis. In the latter group the uncertainty of the clinical outcome and the fear of serious complications were the reason for requesting prenatal diagnosis. Our study confirms that there is an increase in number and size of neurofibromas during pregnancy, as well as an increased rate of cesarean delivery (either for NF1-related complications or for fetopelvic disproportion) and low neonatal weight. In our cohort we did not find an increased rate of other pregnancy complications. We suggest a management model based on a preconceptional multi-specialized evaluation, aimed at determining the clinical condition of the woman and assessing the presence of NF1-related complications that may affect the pregnancy. This evaluation allows the practitioners to select women who need personalized monitoring and prompts appropriately targeted examinations. In multi-specialized teams, different professions work together to create a complete and integrated program. A multi-specialized team allows women and their partners to make fully informed decision about prenatal diagnosis, a frank discussion of the feasibility of genetic testing, outcomes analysis, couples' support and an organized procedure for attaining these goals." @default.
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• W1991566750 date "2013-01-16" @default.
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• W1991566750 title "Neurofibromatosis type 1 and pregnancy: Maternal complications and attitudes about prenatal diagnosis" @default.
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