Which congenital anomaly is incompatible with life

Antenatal sonography and MRI of iniencephaly apertus and clausus. Iniencephaly: prenatal diagnosis and management. Iniencephaly clausus: a case report with review of literature.

J Pediatr Neurosci. Your documents are now available to view. Confirm Cancel. From the journal Case Reports in Perinatal Medicine. Cite this. You currently have no access to view or download this content. Please log in with your institutional or personal account if you should have access to this content through either of these. Showing a limited preview of this publication:.

Abstract Introduction Iniencephaly is characterized by a defect in the occipital bone in the inion, occipital encephalocele, spinal dysraphism and fixed hyperextension of the fetal head. Case A year-old healthy primigravida Syrian woman consulted with labor pain at 39 weeks of gestation. Discussion Iniencephaly is an extremely rare neural tube defect first described by Saint-Hilare in Keywords: Anencephaly ; iniencephaly ; neural tube defect.

Corresponding author: Dr. Received: We had dreams of raising a daughter along with our two sons. Although they could have terminated the pregnancy, the Flors, who are Episcopalians, felt that was the wrong choice for them.

They really wanted to meet their daughter. Most of these newborns struggle to breathe and eat, and survivors are severely disabled. Because of the dire prognosis, many women decide to end their pregnancies. When should potentially life-lengthening procedures not be offered?

And most of all: How do the words, stories and philosophical framework that experts use to think about disease shape how they approach it? Julia was born with Trisomy 18, a genetic disorder. Julia's father, Patrick, and her brothers, Elijah and Joshua greet her, also in the hospital. Julie Cahill Photography. Last year, Collins published a study comparing babies with trisomy 13 or 18 who had heart surgery with those who did not have surgery. Heart surgeries carry risks and cause pain. Before conducting the study, Collins believed the surgeries would harm these babies.

The data upended his expectations. Though a small proportion of infants in the study received cardiac surgery — 7 percent of the 1, study subjects born with trisomy 13 or 18 and heart defects, for a total of surgery recipients — the surgeries seemed to help. For instance, in trisomy 18 patients, 84 percent of those who had heart surgery lived to go home with their families, compared to 56 percent of those who did not receive surgery.

Collins wonders what this means for our understanding of the limits of life in babies with trisomy 13 or The right amount of intervention depends on what feels acceptable to the family, Collins added.

Most quickly grasp the severity of the disabilities a child with trisomy 13 or 18 would face, but they reach different conclusions. The Flors had their first sign that something was wrong at a week prenatal ultrasound scan in June It was the Friday before they planned to start driving from Illinois to the Bay Area, where Patrick Flor had a new job. However, they are also faced with severe illness incompatible with neonatal survival.

On this occasion, several questions arise regarding the approach to be adopted. How to counsel pregnant women about the risks of maintaining or not the pregnancy 1? The laws of developed Western countries such as Europe and North America, allow the interruption of pregnancy when the fetus has an anomaly incompatible with life. However, in Brazil, this procedure is not allowed by the Brazilian Penal Code 2. From this legal standpoint, an abortion is the interruption of pregnancy with fetal death, regardless of the pregnancy stage.

Also according to the law, abortion is not punishable when it is necessary to preserve the mother's life or being the pregnancy a result from rape 7. Because there is no specific legislation on termination of pregnancy in cases of lethal fetal malformation there is a need for judicial permission in each case.

However, the decision to terminate the pregnancy or not is the responsibility of the couple, and there are many factors affecting this decision. In the study, which evaluated the care of pregnant women with an anencephalic fetus, it was verified that the reasons for the choice of non-termination of pregnancy at diagnosis ranged from disbelief to the need for the mother to bury her son.

Among other factors there is also hope that the fetal prognosis change and belief that the mother should not interfere in the time of fetal life 8. It is in this context that nursing care is related with the responsibility of advising the couple.

In this service, it is clear the role of the nurse as an educator, performing genetic counseling consultation, which aims to ensure the couple to acquire basic technical knowledge that can be used as a basis for making a decision 1. When working with couples that are generating unviable fetuses it was observed that it is no longer enough to seek alternatives for intervention, whether for maintenance or termination of pregnancy, but rather inform about the possible risks that each option can cause to the maternal health.

As for the maintenance of pregnancy status as related to the possible emergence of obstetric complications, there are few data in the literature. In attempting to answer this question and seek greater accuracy in the information provided to these families, the nursing staff of this Centre has proposed a study aiming to describe the most common obstetric complications encountered during periods of pregnancy, childbirth and postpartum in women with fetuses with anomalies incompatible with life.

The oligohydramnios in the first and second trimester was associated with an increased frequency of abnormalities of the urinary system, which prevents either the production or disposal of diuresis. On the other hand the polyhydramnios is associated with abnormalities that prevent swallowing of the liquid as anencephaly, or upper digestive tract atresia. This change in amniotic fluid offers greater maternal risk, as there is a greater chance of developing hypertensive disorders of pregnancy, renal and cardiac insuficiency, respiratory distress, placental abruption, premature rupture of membranes, infection, premature labor and even abortion by the need for invasive diagnostic and therapeutic procedures such as amniocentesis or amniodrenagem, for example The premature ruptured membranes figure as an important cause of puerperal infection This is a cross sectional study.

Between and , pregnant women were enrolled in the service, among which a total of women were diagnosed with fetal inviability. However, adjusting the research design women were excluded, of whom 80 opted for pregnancy termination and the other 85 did not carry on prenatal or delivery was performed at another hospital.

The study population was composed, therefore, of 78 pregnant women. The population met the following inclusion criteria: a single fetus, diagnosis of lethal fetal malformation, option for non-termination of pregnancy and childbirth in the realization of the Hospital. Mean maternal age was Almost half of the mothers More than half of the mothers had a tertiary level of education The average number of ANCs attended by mothers was 4. One hundred and seventy-nine The average number of ultrasounds was 2 with extremes ranging from 1 to 5.

Thus, an antenatal presumptive diagnosis was evoked in 44 newborns with VCMs, the majority of them in the third trimester. Thirty-five The TTP was performed when a malformation incompatible with live was diagnosed antenatally or when a fetus with a potentially surgical corrected malformation which could not await term delivery; as was the case two fetuses with severe bilateral urethro-vesico-uretero-hydronephrosis Brune Belley Syndrome , a fetus with hydrocephalus, one with hydronephrosis plus hypospadia and one with omphalocele.

Visible central nervous systems CNS malformations including hydrocephalus, was the most diagnosed malformations in the antenatal group because 17 out of 24 cases were diagnosed among the 22 who performed an antenatal ultrasound. That of spina bifida was No cases of orofacial clefts, polydactyly and club feet were diagnosed antenatally. We found that the incidence of VCMs was 9 per births. The overall incidence of VCMs in our study was 9 cases per births.

This incidence is higher than that of the multicenter study carried out in the Democratic Republic of Congo in which found an incidence of VCMs of 6. We observed the highest frequency Moreover, these results are also certainly influenced by the fact that the obstetrical and pediatric staff of the hospital had recently undertaken a refresher course on the recognition of CMs at birth geared at their timely diagnosis and management.

The most common VCMs were: skeletal 4. This order of frequency per system is closed to that found by several authors [ 5 , 6 , 7 ]. Polymalformations were observed in This prevalence rate is lower than those observed in Abidjan [ 8 ], Paris [ 9 ] and Belgium [ 10 ] which were 6.

This disparity in prevalence rates may be due to under-reporting of VCMs which still seems to go unnoticed in at birth and the neonatal period in many settings.

In this study, the sole antenatal diagnostic test was obstetrical ultrasound scan. According to the WHO recommendations, at least three ultrasounds should be performed during pregnancy, one per trimester [ 3 ]. These scans aim to ensure foetal well-being, and the absence of CMs. This antenatal diagnosis is important to pregnant women because while some choose the continuation of their gestation, others seek a TTP. This antenatal diagnosis makes it possible to terminate the pregnancy if the VCM seen on antenatal ultrasound is deemed incompatible with life, or if emergency management is necessary to improve the vital prognosis of the foetus.

It is worth to mention that our prevalence rate of antenatal diagnosis was higher than the The frequency of antenatal diagnosis in our context is far below the However, we found that antenatal ultrasounds, especially those of the 2 nd and 3 rd trimesters, were not performed at the right time, which could compound, contribute to the low antenatal diagnosis rate.

As a result, abnormalities of foetal morphology or nuchal translucency were not timely diagnosed antenatally, hindering adequate pregnancy follow-up and anticipation of TTP or timely surgical management of newborns with VCMs requiring surgery. Fifteen newborns with VCMs were delivered stillborn, with majority of the deaths occurring intra-uterinelly.

This result suggest the role of VCMs in neonatal mortality, which is one of the leading cause of neonatal mortality [ 1 , 11 , 12 , 13 ]. The main indication for caesarean section in our study was cephalo-pelvic disproportionation related to macrocranium due to either thanatophoric dwarfism Fig.

Thanatophoric dwarfism. It is a genetically based malformation incompatible with life. Beckwith Wiedemann Syndrome. We acknowledge the following limitations of the present study. Firstly, the diagnosis of VCMs was made antenatally with ultrasound scans and at birth through clinical examination of the newborn without in-depth investigations of probably associated occult CMs through cardiac ultrasound, abdominopelvic ultrasound scan, spinal x-ray, magenetic resonance imaging or more sophisticated tests like amniocentesis and chorionic villi sampling for genetic tests.

Although this was not the scope of our study, it is likey that we may have overlooked some associated and even later fatal neonatal occult malformations in newborns presenting with a visible single malformation or polymalformation syndrome.

The inability to carry out the aforementioned imaging and genetic tests due to their relatively expensive cost and invailability in our resource-challenged setting was a significant compounding factor to this shortcoming.