Anencephalic Pregnancies Research Articles

An Unusual Monochorionic Pregnancy.

An Unusual Monochorionic Pregnancy.

The impact of anencephaly on parents: A mixed-methods study

This study used a convergent parallel mixed-method design to explore the impact of an anencephalic pregnancy on parents. Twenty women and four men between 18–59 years old participated. Interview transcripts were analyzed using interpretive phenomenology and synthesized with Perinatal Grief Intensity Scale scores using a Pearson’s correlation. Overall, 75% of parents scored intense grief. Qualitative patterns included overwhelming trauma, patient-centeredness as critical, stigmatizing perinatal loss, embracing personhood, and reframing reality. Control over care was associated with decreased grief (p =.019). Health care professionals are ideally positioned to reduce the risk of intense grief in parents experiencing an anencephalic pregnancy.

Experiencing Anencephaly: A Parent's Perspective (S782)

•Describe components contributing to the long-term impact of perinatal bereavement on parents as they traverse the unknown journey of perinatal loss associated with an anencephalic pregnancy.•Recognize the utility of the perinatal grief intensity scale (PGIS) and its application to daily practice during encounters with parents experiencing perinatal loss.•Identify barriers in attendees current work setting to providing bereaved parents with support and resources such as perinatal palliative care. Congenital anomalies are the leading cause of infant death in the United States. Nearly 25% or parents who experience perinatal loss develop long-term adverse psychosocial outcomes resulting from intense grief, such as depression, anxiety, substance abuse, posttraumatic stress disorder, and suicidal ideation. The majority of perinatal loss research has focused on miscarriage and stillbirth, necessitating investigation into the impact of lethal congenital anomalies. The purpose of this study was to explore the impact of the lived experience of parents with a history of a pregnancy complicated by anencephaly using hermeneutic interpretive phenomenology and the PGIS. This mixed methods pilot study included three open ended interviews followed by the administration of the PGIS. Interview transcripts were analyzed by a hermeneutic team using Heideggerian philosophy. The PGIS scores were analyzed and demographic characteristics were collected. Two women and one man participated. All participants were Caucasian, middle income, living in a suburban area. Three patterns emerged: Perinatal loss as a psychosocial journey, struggling with societal expectations, and communication as challenging. The PGIS scores indicated two of the three participants continue to experience intense grief at two and four years after their loss. None of the participants were referred to bereavement support or perinatal palliative care. Congenital anomalies such as anencephaly are a life altering event for parents, placing them at risk for persistent, intense grief. It is important to recognize parents at risk for intense grief and provide appropriate bereavement resources such as perinatal palliative care.

What's Happening When the Pregnancies Are Not Terminated in Case of Anencephalic Fetuses?

BackgroundTo review the obstetric outcomes of pregnancies with anencephalic fetuses when these pregnancies are not terminated and ongoing.MethodsA retrospective chart review is made of the cases with a prenatal diagnosis of anencephaly and who were opted to continue the pregnancy in 1-year period. The evaluated data included gestational age at diagnosis, gestational age at birth, labor induction rates, cesarean delivery rates, stillbirth, shoulder dystocia rate, antepartum and postpartum hemorrhage.ResultsA total of 28 cases that were selected from 87 cases with the diagnosis of anencephaly are included in the study. The average gestational age at diagnosis was 18 weeks. The average gestational age at birth was 31 weeks (range 23 - 37 weeks). Stillbirths were reported in 32% (9/28). Polyhydramnios developed at six patients and two of them required amniodrainage due to severe polyhydramnios. Vaginal birth was achieved in 67% (19/28) of the patients. Labor induction was applied at total 17 patients and one of them had gone to cesarean section due to failed induction. There were two cases of shoulder dystocia. Nine patients had gone to cesarean delivery. Any other complication was not encountered.ConclusionsParents should be counseled in detail about continuation of an anencephalic pregnancy before making their decision. The information about “what an anencephalic pregnancy can lead”' should be given. The redundant cesarean deliveries, polyhydramnios and associated complications, obstetrical hemorrhage risk should be discussed with patients. It should also be emphasized that these maternal risks are for the sake of a non-life expectant baby.

Constitutionalizing abortion in Brazil

Brazil has been constitutionalizing disputes on women’s right to terminate unwanted pregnancy. This paper explains how this process started with the drafting of the new constitution in 1986-87, and evolved in different arenas, the legislative, the executive and in the public sphere. Most recently, it moved to the Supreme Court, primarily in its anencephalic pregnancy decision, brought as a Claim of Non Compliance with Fundamental Precept (ADPF 54). Decided in 2012, it was the first time since the adoption of the Penal Code in 1940 that the Brazilian Supreme Court moved the criminal boundaries to enable women to decide whether to terminate anencephalic pregnancies. The purpose of this article is to examine how the ADPF 54 decision contributed to the constitutionalization of abortion. First, it established the right to life as a non-absolute right, granting constitutional legitimacy to the system of legal exceptions. Second, it signaled the balancing of constitutional rights as the reasoning paradigm for this issue. Third, in framing the controversy as a matter of balancing constitutionally protected rights, the positions established in the Court ultimately recognized crucial understandings of women’s rights.

Anencephaly and obstetric outcome beyond the age of viability.

Objective To review the obstetric impact and natural history of anencephalic pregnancies beyond the age of viability. Study design A retrospective chart review of all cases with a prenatal diagnosis of anencephaly who delivered after 24 weeks' gestation during the period 1990 until 2016. Obstetric outcomes including mode of delivery, live births, shoulder dystocia, antepartum haemorrhage (APH), postpartum haemorrhage (PPH) and uterine rupture were studied. Results A total of 42 cases were studied. The average gestational age at diagnosis was 22 weeks (range 10-41). The average gestational age at birth was 36 weeks (range 25-44 weeks). Induction of labour was performed in 55% (23/42) of the cases. Livebirths were documented in 40% (17/42) of the cases. The average birth weight was 1597±746 g. The rate of vaginal birth was 69% (29/42), the overall rate of caesarean section was 31% (13/42), with a primary caesarean section in 31% (4/13) and a repeat caesarean section in 69% (9/13) of the patients. There were two cases of shoulder dystocia. No other complications were encountered. Conclusion Overall, anencephaly is not associated with an increased risk of obstetric complications; however, there is a tendency towards delivery via repeated caesarean section in women with a previous uterine scar and anencephaly. The prenatal counselling of potential obstetric outcomes could be of robust value for parents who opt to continue with anencephalic pregnancies.

A Diagnosed Case of Anencephaly and Severe Neural Tube Defect at 30 Weeks, Antenatal and Intrapartum Aspects

With routine prenatal diagnosis offered to pregnant women, cases of anencephaly are diagnosed and managed in the early stages of pregnancy. As cases of anencephaly have a lethal outcome, termination of pregnancy is offered. This has led to a lack of familiarity for clinicians on how to manage on-going anencephalic pregnancies from the obstetrics point of view. We present a case of late diagnosis of anencephalic pregnancy where the mother has opted to continue with the pregnancy.

Pedidos para interrupção de gestação de anencéfalos: jurisprudência no estado de São Paulo

<p>Em 2012, foi aprovada a legalização do término de gestações de fetos anencéfalos no Brasil pelo Supremo Tribunal Federal (STF). Contudo, os tribunais brasileiros já vinham se posicionando neste sentido por vários anos, com destaque a atuação dos tribunais paulistas. O objetivo deste trabalho foi buscar o posicionamento e as justificativas que serviram de apoio às decisões referentes à interrupção das gestações de anencéfalos e observar na literatura dados referentes aos aspectos médico-legais envolvidos nas decisões. Em São Paulo, foram encontrados 30 acórdãos relacionados ao tema interrupção de gestação de anencéfalos, 9 favoráveis, 6 contrários ao aborto e 15 que não tratavam diretamente o tema. Quando autorizado, o aborto foi realizado tendo como fundamentação jurídica: a) analogia com o aborto terapêutico ou com o sentimental; b) o direito à vida, à saúde, à intimidade, à dignidade e autonomia da gestante; c) a inexigibilidade de conduta diversa da gestante; e d) a equiparação do feto anencéfalo ao morto cerebral. Já os negados, consideraram a primazia do direito à vida do nascituro e a ilegalidade da conduta. Do ponto de vista legal, além dos artigos referentes ao aborto encontrados no Código Penal, foram citados os direitos fundamentais encontrados na Constituição Federal (1988), a Lei no 9.434/97, Lei no 8.069/90, a Declaração Universal dos Direitos Humanos (1948), Declaração Universal dos Direitos da Criança (1959), as resoluções do Conselho Federal de Medicina - CFM nos 1.480/97 e 1.752/04, o Pacto de São José (Decreto no 678/92), e a Arguição de Descumprimento de Preceito Fundamental - ADPF no 54 (2008).</p>

O aborto do feto anencefálico e a questão constitucional

Há tempos o aborto vem ocupando as discussões jurídicas, tanto no ordenamento pátrio como internacional. É tema de imensa complexidade, que, por sua interdisciplinaridade, gera intensas discussões entre juristas, médicos, cientistas, filósofos e a própria sociedade civil. Nesse ambiente, a questão referente à possibilidade, ou não, da interrupção da gestação do feto anencefálico vem ocupando os salões da Corte Constitucional Brasileira, que tem possibilitado o embate de ideias e a participação ampla de todos os interessados. Por meio do julgamento da ADPF 54, todas as particularidades dessa "modalidade de aborto" vêm sendo esmiuçadas. Porém, é por meio de uma interpretação constitucional que os hermeneutas devem compreender a questão. Em um momento de constitucionalismo contemporâneo valorizador dos princípios fundamentais do cidadão, a dignidade, a liberdade e a saúde da mãe devem ser colocadas em proeminência, lançando-se mão, inclusive, de instrumentos da hermenêutica constitucional, como a interpretação conforme e a ponderação. Assim, o tratamento jurídico da gravidez anencefálica deve entender a interrupção desta gestação como medida terapêutica garantidora da dignidade humana da mulher, e jamais como aborto.

Meckel-Gruber Syndrome (Dysencephalia Splanchnocystica)

Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The present pregnancy was a preterm vaginal delivery of female twins by face presentation at 35 weeks of gestation (diamniotic dichorionic twin gestation). Neonatal autopsy revealed classical triad of occipital encephalocele, polycystic kidneys and lungs with postaxial polydactyly. This case is presented for its rarity and its documented occurrence in Gujarati Indians.

Prenatal management of anencephaly

About a third of anencephalic fetuses are born alive, but they are not conscious or viable, and soon die. This neural tube defect can be limited by dietary consumption of foliates, and detected prenatally by ultrasound and other means. Many laws permit abortion, on this indication or on the effects of pregnancy and prospects of delivery on a woman's physical or mental health. However, abortion is limited under some legal systems, particularly in South America. To avoid criminal liability, physicians will not terminate pregnancies, by induced birth or abortion, without prior judicial approval. Argentinian courts have developed means to resolve these cases, but responses of Brazilian courts are less clear. Ethical concerns relate to late-term abortion, meaning after the point of fetal viability, but since anencephalic fetuses are nonviable, many ethical concerns are overcome. Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies.

Historical Perspectives

This month’s Historical Perspectives is in a slightly different format, but should be of considerable interest to readers of NeoReviews. Professor Nicholas Wald is an epidemiologist who has evaluated and written about a variety of topics, but he is best known for his work on screening methods, particularly in the area of maternal serum alpha-fetoprotein (AFP) and fetal abnormalities. Because of his continuing heavy commitments and to minimize the disruption of his schedule, I posed a number of questions to him, to which he responded with detailed answers. Before moving to his responses, some background information seems in order. Shortly before publication of the article highlighted this month, evaluation of amniotic fluid in cases of open spina bifida and other neural tube defects had shown increased levels of AFP. (1) Somewhat later, it was shown that abdominal wall defects, as well as neural tube defects, could contribute to increased levels of amniotic fluid AFP. (2) In his responses, Professor Wald documents the sequence of events that followed, noting that Professor David Brock in Edinburgh described the association of increased levels of maternal serum alpha-fetoprotein (MSAFP) with fetal anencephaly, which triggered the idea that this also might be true of open spina bifida. Thus, MSAFP was used as a screening tool for the detection of neural tube and abdominal wall defects. Elevated MSAFP levels were noted in other “at-risk” pregnancies (3) and twin pregnancies. (4) To provide better standardization, Professor Wald introduced the concept of “multiples of the median” (MoM) at different gestational ages. Approximately a decade passed before the association was made between low MoMs for AFP and chromosomal defects, particularly Down syndrome. Soon thereafter, several other serum markers for Down syndrome were described, and by linking them to maternal age, screening became increasingly valuable. In the early 1980s, Dr …

Genetic susceptibility to neural tube defect pregnancy varies with offspring phenotype

Neural tube defects (NTDs) have a well-established genetic basis, although no single genetic factor has been identified as a major risk factor in NTD susceptibility. A large number of association studies have been conducted to investigate the possibility that NTD susceptibility is linked to polymorphic variation in genes involved in early embryonic development or in the absorption or metabolism of folate, a nutrient that has been clearly associated with a reduction in the risk of NTD pregnancy. A study of three candidate gene polymorphisms at loci implicated in folate absorption and metabolism has been conducted on a population of 211 mothers of a heterogeneous mix of NTD phenotypes: 59% spina bifida aperta (SBA), 20.3% spina bifida occulta (SBO), 17% anencephaly, and 3.7% other NTD. Allele and genotype frequencies were stratified according to offspring NTD phenotype, and variation in the level of NTD risk was associated with different phenotypes. All the three variants (MTHFR 677C > T, GCPII 1561C > T, and RFC-1 80G > A) were shown to significantly influence the risk of anencephalic pregnancy. In addition, the MTHFR 677C > T variant conferred a modest protective effect in SBO mothers and the total NTD mother group, but not in SBA mothers. The RFC-1 80G > A variant elevated the risk of SBO and anencephalic pregnancy. The findings of this study suggest that NTD phenotypic heterogeneity may help explain the mixed findings of previous association studies and that different polymorphisms may hold differing degrees of significance for the various NTD phenotypes.

9 Medical management of abnormal pregnancy

Medical termination of abnormal pregnancy requires specific techniques since some conditions make therapy more effective, e.g., missed abortion intrauterine death and molar pregnancy, and others less so, e.g. anencephalic pregnancy. In all cases it is best to terminate the pregnancy as soon as possible to reduce anguish and risks of complications such as consumptive coagulopathy. Oxytocin is not consistently effective, but intraamniotic rivanol has oxytocic properties, and prostaglandins (PGs) are effective by several routes. Surgical methods are more popular in Japan and the US. A diagnostic flow chart is included and described. For missed abortion and fetal death vacuum aspiration or dilatation and evacuation are appropriate for early pregnancy, or PGs are used for later pregnancy, unless there are medical contraindications. Anencephalic pregnancy, usually diagnoses in 2nd or 3rd trimester, is resistant to medical therapy and must often be terminated by cesarean section. Molar pregnancy can be managed with vacuum aspiration at any length of gestation, but must be completed by curettage. Intraamniotic PGs are not advised for mole or fetal death. PG analogs can be administered intramuscularly, or vaginally in gel form. Other types of abnormal pregnancy that can be managed with PGs are spina bifida, hydrocephalus, hydrops fetalis, Dandy-Walker syndrome and Down's syndrome. Tubal pregnancy can be evacuated with intratubally administered PGs under laparoscopic control, thereby preserving tubal integrity.

Prenatal screening and diagnosis of neural tube defects in England and Wales in 1985.

A survey was carried out to determine the effect of prenatal screening and therapeutic abortion on births in 1985 with anencephaly and spina bifida in England and Wales. Maternal serum alpha-fetoprotein tests were done on 399,288 women (60 per cent of pregnant women): 4 per cent were reported as being screen-positive and 1 per cent had an amniocentesis. An estimated 534 pregnancies associated with anencephaly were terminated and an estimated 445 pregnancies associated with spina bifida (but without anencephaly) were terminated. Most (63 per cent) of the anencephalic pregnancies were first suspected from an ultrasound examination; 57 per cent of the spina bifida pregnancies were first suspected from a positive maternal serum alpha-fetoprotein test, 35 per cent by ultrasound, and the remaining 8 per cent by other means. The birth prevalence of anencephaly declined by 94 per cent between 1964-1972 and 1985, but when the terminations of pregnancy on account of having a fetus with anencephaly are added to the births the decline in prevalence was only 50 per cent. The birth prevalence of spina bifida declined by 68 per cent over the same period but when the terminations were added to the births the decline in prevalence was only 32 per cent. Among births with anencephaly 66 per cent had had no screening or diagnostic tests in early pregnancy, but in those that did nearly all were positive--usually in twin pregnancies where one fetus was affected but not the other. Among births with spina bifida, 48 per cent had no tests and in those that did the results were mainly negative.(ABSTRACT TRUNCATED AT 250 WORDS)

Serum concentrations of delta 5C21 steroids during pregnancy and at delivery

In order to study the changes of C21-steroid levels which included Pregnenolone (P5), 20 alpha dihydropregnenolone (20P5), 16 alpha hydroxypregnenolone (16P5), progesterone (P4) and 20 alpha dihydroprogesterone (20P4) in maternal peripheral blood during pregnancy and at delivery, these steroids were measured by GC-MASS with application of deuterated steroids as internal standard. The accuracy of GC-MASS method of these steroids was satisfactory with C.V. value of less than 6%. Total delta 5C21 steroid concentrations in course of pregnancy and at delivery were as follows; P5 (mean +/- S.D. ng/ml): 66.6 +/- 36.2 (1st trimester), 80.9 +/- 24.6 (2nd trimester), 147.7 +/- 30.1 (3rd trimester) and 299.7 +/- 178.3 ng/ml (at delivery), 20Ps: 212.6 +/- 102.5, 143.4 +/- 53.9, 248.9 +/- 58.8, 563.4 +/- 198.2 ng/ml, 16P5: 8.6 +/- 8.6, 8.1 +/- 5.2, 124.3 +/- 40.3, 378.5 +/- 180.0 ng/ml, respectively. P4 (43.0 +/- 28.0 ng/ml) and 20P4 (8.0 +/- 4.0 ng/ml) in 1st trimester showed gradual increase to maximum level (P4: 138.2 +/- 30.1 ng/ml, 20P4: 105.4 +/- 21.6 ng/ml) at pre-pain period, afterward decreased rapidly (P4: 70.9 +/- 23.2 ng/ml, 20P4: 59.8 +/- 19.3 ng/ml) at delivery. P5, 20P5 and 16P5 levels were found to be significantly higher in umbilical artery (UA) as well as in umbilical vein (UV) than those in maternal vein (MV) regardless of labor pain. P4 and 20P4 did not show any differences in MV regardless of labor pain. P4 in UV (pain+) and 20P4 in UA (pain-), however, showed significantly higher than P4 in UV (pain-) and 20P4 in UA (pain+). P5, 20P5, 16P5 and 20P4 levels were significantly lower in the case of anencephalic pregnancy (ANC) at 3rd trimester than in normal pregnancy, especially 16P5 levels (22.2 +/- 5.0 ng/ml) showed 1/5 of those in normal pregnancy. From the results obtained above, it is suggested that these delta 5C21 steroids are actively produced in the feto-placental unit in the course of pregnancy. The levels of these steroids reached maximum at delivery, but the levels of P4, 20P4 decreased toward delivery after maximum levels were shown in the stage of pre-labor pain. No significant difference of P4 level in the case of ANC suggested that P4 production correlated with placenta as well as maternal and fetal precursor. Decreasing of 20P4 and P4 level after the stage of pre-labor pain suggested that activity of 3 beta hydroxysteroid dehydrogenase was reflected by uterine contraction during labor.

Rapid and simultaneous measurement of estrone, estradiol, estriol and estetrol in serum by high performance liquid chromatography with electrochemical detection.

A high performance liquid chromatographic (HPLC) method with electrochemical detection (ECD) was developed for the simultaneous measurement of estrone, estradiol, estriol and estetrol in serum. These hormones were extracted with diethylether, chromatographed on an silica-octadecyl silane (ODS) column with an eluent of phosphate buffer solution-acetonitrile-methanol (volume ratio 152:85:40), and detected by ECD at +1.0V vs. Ag/AgCl. In comparisons between the values measured by this method and radioimmunoassay, significant correlations were noted for estrone (r = 0.759, p less than 0.01), estradiol (r = 0.816, p less than 0.001) and estriol (r = 0.830, p less than 0.001). In clinical applications of this method, differences between cases of the normal and the anencephalic pregnancy in the thirty-eighth week of gestation were distinct not only in the individual estrogen, but also in the profile analysis of estrogens. With this method, all 4 serum estrogens above approximately 500 pg/ml could be measured within 2 h, and the method seemed to be clinically applicable.

Amniotic fluid alkaline ribonuclease activity: an indicator of foetal growth retardation and anencephaly

Amniotic fluid alkaline ribonuclease (RNase) activity was measured in 55 normal and 29 neural tube defect pregnancies. The pregnancies which resulted in neural tube defects gave a mean value of 2,500 U/l with a sd of 600 compared with a mean activity of 1,600 U/l (sd 350) from the control normal pregnancies. The mean amniotic fluid RNase activity of 15 anencephalic pregnancies was 2,600 U/l (sd 600), compared with 1,600 U/l ( sd 350), for 28 gestational age-matched controls. Highest RNase activities appear to be related to anencephaly.

Maternal zinc status: a determination of central nervous system malformation.

Maternal serum zinc concentrations were estimated during 244 normal pregnancies and 15 abnormal pregnancies. The serum zinc concentrations were lower in the anencephalic pregnancies than in the normal control subjects. The serum zinc levels in women whose pregnancies terminated in a spontaneous abortion were normal. There was no variation of serum zinc level with gestational age between 15 to 18 weeks in normal pregnancies.

Determination of free and conjugated 16 alpha-hydroxyestrone (16 alpha-OH E1) in serum by mass fragmentography using gas chromatography mass spectrometry

A simple, rapid and highly specific method for the determination of maternal and cord serum 16 alpha-hydroxyestrone (16 alpha-OH E1) during pregnancy and at delivery was developed by mass fragmentographic technique using a Gas chromatography--Mass spectrometry (GC-MS) with application of deuterated estradiol as an internal standard. The equipment used was Shimadzu LKB9000 GC-MS (MID-PM). The T.F.A. derivative of the compounds was analyzed using the GC-MS system equipped with a 1 m glass coil, 1% OV-1 on chromosorb w 60 approximately 80 mesh. The flow rate of carrier gas (helium) was 25 ml/min. The temperatures of column oven, separator and ionization source were kept at 190 degrees C, 270 degrees C and 290 degrees C, respectively. The ionization energy and trap current were 70 eV and 60 microA, respectively. The mass spectrum showed molecular ions at m/ e467 and m/ e478 corresponding to the T.F.A. derivatives of d3-E2 and 16 alpha-OH E1 respectively. Evaluation of the method assessed by recovery experiments was 99.2 percent when 10 ng of 16 alpha-OH E1 was added to 1.0 ml of male serum treated with charcoal. The coefficient of variation was 4.2 percent. Serum conjugated 16 alpha-OH E1 levels during pregnancy increased with progressing gestation. The levels in early pregnancy (5th approximately 15th week), middle pregnancy (16th approximately 27th week) and late pregnancy (28th approximately 42th week) were 1.72 +/- 0.43 ng/ml, 5.35 +/- 2.60 ng/ml, 11.92 +/- 3.93 ng/ml (mean +/- S.D.), respectively. Mean levels of 16 alpha-OH E1 in the umbilical artery were 11.61 +/- 5.17 ng/ml which were statistically higher than these in the maternal peripheral vein (6.06 +/- 4.72 ng/ml) and umbilical vein (9.16 +/- 3.77 ng/ml). Serum 16 alpha-OH E1 levels in the samples obtained from anencephalic pregnancy were significantly lower than those in normal pregnancy, suggesting that fetal adrenal function may be involved in the formation of this steroid during pregnancy.