Nonlethal Anomaly Research Articles

Evaluation of Neonatal Intensive Care Unit Mortality

Objective: To evaluate neonatal intensive care unit (NICU) deaths in one of the largest obstetrics centers in Turkey in order to determine the causes of death in this high-risk group. Materials and Methods: We retrospectively analyzed all NICU deaths occurring between 2013 and 2018. The study included infants born alive at 22 weeks of gestation or older. Results: Of 102374 babies born in our hospital, 14768 infants (14.4%) were admitted to the NICU and 957 (6.48%) of those infants died before discharge. The most common causes of death were extreme prematurity or extremely low birth weight (31.5%), lethal anomalies (13.1%), and sepsis (8.2%). At younger gestational ages, causes associated with extreme prematurity and complications of prematurity were most common, while the death rate due to perinatal asphyxia and genetic or structural anomalies increased at older gestational ages. Conclusion: The causes of NICU deaths are multifactorial and vary with gestational age. Efforts to reduce NICU mortality should include preventing or delaying preterm delivery and identifying the most appropriate treatment modalities that may reduce the risk of respiratory distress, intracranial hemorrhage, necrotizing enterocolitis, and sepsis. In more mature infants, the main goal should be to prevent and treat perinatal asphyxia and determine the most appropriate treatment modalities for non-lethal anomalies.

Congenital Alveolar Capillary Dysplasia and New Associations: A Case Series with a Report of New Associations and Literature Review

Congenital Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD-MPV) is a rare and a lethal cause of neonatal respiratory failure and severe hypoxemia, secondary to persistent pulmonary hypertension (PPHN). It is refractory to all standard medical therapies including High Frequency Ventilation (HFV), inspired Nitric Oxide (iNO), and Extracorporeal Membrane Oxygenation (ECMO). According to the Online Mendelian Inheritance in Man (OMIM), it is caused by heterozygous mutation in the FOXF1 gene on chromosome 16q24. Newer study has suggested that two other genes can cause (ESRP1) or function as modifiers (PLXNB2) of the ACDMPV phenotype. Most reported cases of ACD-MPV had multiple congenital non-lethal anomalies. Here, we report six cases of autopsyproven ACD-MPV from a single institution during a seven year period. Medical information was obtained from the electronic medical records. Pathology slides were read and confirmed by pediatric pathologists of two different university hospitals. Novel findings include an association with previously undescribed congenital anomalies and a sibling with congenital alveolar dysplasia without capillary dysplasia. All patients presented in the newborn period, with severe hypoxemia and echocardiogram (Echo)-confirmed PPHN. The vast majority of ACDMPV cases continue to be diagnosed by autopsy, after the infants have been subjected to extreme degree of intensive care. ACD-MPV needs to be considered as a diagnostic possibility when ECMO fails.

Long-term neurofunctional outcome, executive functioning, and behavioral adaptive skills following fetal myelomeningocele surgery

Myelomeningocele (MMC) represents the first nonlethal anomaly to be treated by prenatal intervention. Case series and a prospective, randomized study show that fetal surgery for MMC before 26 weeks' gestation may preserve neurological function. Long-term follow-up is a fundamental component to evaluate the overall efficacy of any new medical or surgical procedure. To further delineate the long-term impact of fMMC surgery, we continued to follow children treated in our institution before the Management of Myelomeningocele Study trial by the means of parental questionnaires to assess changes in functional, developmental, and cognitive status as these unique patients grow older. The objective of the study was to evaluate the long-term neurological outcome, executive functioning (EF), and behavioral adaptive skills (BAS) following fetal myelomeningocele (fMMC) surgery. Prior to the Management of Myelomeningocele Study trial, 54 patients underwent fMMC surgery at our institution. Parents of 42 children (78%) participated in structured questionnaires focusing on neurofunctional outcome. EF and BAS were measured by the Behavior Rating Inventory of Executive Function (BRIEF) and the Adaptive Behavioral Assessment System II. The BRIEF is organized into 3 primary indices including the following: Global Executive Composite, Metacognition Index, and Behavioral Regulation Index. The Adaptive Behavioral Assessment System II results in a general adaptive composite score. Based on SD intervals, EF and BAS were categorized as being average, borderline, or impaired. At a median follow-up age of 10 years (range, 8-14 years), 33 (79%) are community ambulators, 3 (9%) are household ambulators, and 6 (14%) are wheelchair dependent. Preschool ambulation was predictive of long-term ambulation (P < .01), whereas the need for tethered cord surgery was associated with persistent deterioration of ambulatory status (P= .007). Normal bladder function was found in 26%. Although the majority scored within the average range for the Behavioral Regulation Index, Metacognition Index, and Global Executive Composite indices, significantly more children who had fMMC surgery had deficits in EF in all 3 BRIEF indices compared with the population norms. The general adaptive composite scores were also more likely to fall below average following fMMC surgery. Normal early neurodevelopmental outcomes were predictive of normal EF and BAS (P < .01). Need for shunting was associated with a significant impairment of BAS (P= .02). The present study suggests that fMMC surgery improves long-term functional outcome. The majority of fMMC children can successfully complete everyday tasks at home and at school. Abnormalities of BAS appear to be more common than impairments in EF and therefore offer an area for early screening and interventional therapy for these at-risk children. Non-shunted fMMC children with normal early neurodevelopmental outcome are less likely to experience problems with EF and BAS. fMMC surgery improves long-term ambulatory status. Symptomatic spinal cord tethering with or without intradural inclusion cyst is associated with functional loss. More than expected fMMC children are continent, but bowel and bladder control continue to be an ongoing challenge for the fMMC children.

Psychological effects of fetal diagnoses of non-lethal congenital anomalies on the experience of pregnant women during the remainder of their pregnancy.

The aim of this study was to explore the effects of prenatal fetal diagnoses of non-lethal anomalies on the psychological well-being of pregnant women throughout their pregnancy. Fifty-five pregnant women were asked to complete a questionnaire (the Spielberger State-Trait Anxiety Inventory) to assess their anxiety levels at multiple follow-up visits. In-depth interviews were conducted with 20 pregnant women after completion of the questionnaire. We identified three stages of psychological distress. The intense negative psychological reaction stage was characterized by an intense psychological distress in response to the loss of an ideal child. The psychological healing stage was characterized by the emergence of coping mechanisms and a concomitant decrease in psychological distress. Finally, the intense negative psychological reaction re-emergence stage was characterized by an increase in psychological distress related to uncertainty regarding the future of the baby. Following a prenatal diagnosis of a non-lethal anomaly, both the nature and the intensity of the psychological distress experienced by pregnant women change throughout the remainder of their pregnancy. Throughout the remainder of their pregnancy, these women should be offered effective psychological support that accounts for each of the distinct psychological response stages identified in this study.

PFM.63 Uncovering the complex relationships between maternal age, antenatal detection rates, and pregnancy outcome in cases of Trisomy 13 and 18 (T13&T18)

BackgroundScreening for T13&T18 is offered to all pregnant women as part of the UK Fetal Anomaly Screening Programme (FASP). Current targets require antenatal detection rates of 95%.AimTo explore the complex...

Is karyotype beneficial in prenatal non-lethal anomalies?

The objective of the study is to evaluate the need for fetal karyotyping after ultrasonographic diagnosis of isolated non lethal anomalies and to stress the importance of prenatal counseling. Sixty expectant mothers were chosen to have detailed fetal anomalies survey including echo were done between 24-28 weeks. The fetuses diagnosed antenately for nonlethal anomalies are subjected to postnatal karyotyping. About twelve cases of isolated nonlethal anomalies were detected. Various anomalies are intra abdominal cyst, VSD, microcephaly, isolated hydrocephalus, cleft lip, cleft palate, talipes, and abnormal wrist position were detected. Out of twelve cases only one case had abnormal Karyotype and it was Trisomy 18. From this study it is concluded, that in isolated Non-Lethal anomalies with otherwise normal morphology, prenatal testing of karyotyping is not beneficial.

Expectant Management in Twin Pregnancies With Discordant Structural Fetal Anomalies

Routine obstetric ultrasound increasingly leads to the detection of structural fetal anomalies. In twin pregnancies with one anomalous twin, counseling on management strategies is complicated. Twin pregnancies (n = 212) were referred to a tertiary center between January 2007 and July 2009. In a retrospective analysis, twins discordant for a structural fetal anomaly were compared to twins without anomalies in the prenatal ultrasound. Outcome parameters were survival and gestational age at birth. Anomalies were seen in at least one fetus of 30 twin pairs. The two pregnancies in which the anomalies were concordant were terminated. Selective feticide was performed in three cases of major but non-lethal anomalies in dichorionic twins. The remaining 25 cases were managed expectantly. In three of these cases, spontaneous fetal demise of the affected fetus was observed. In five cases with major (lethal) anomalies, the pregnant women and their partners opted for non-intervention comfort care after birth for the affected fetus. Median gestational age at delivery was 257 days for twins without structural anomalies and was 254 days (n = 22) for twins with one anomalous fetus. This was not significantly different (Mann Whitney U, p = .69). Again, no difference was found for median gestational age at delivery in normal vs. discordant anomalous dichorionic twins if subdivided for chorionicity (Mann Whitney U, p = .68). In this cohort we describe the request for expectant management by pregnant women and their partners of those twins discordant for major (lethal) anomalies. Expectant management was not associated with increased risk of premature delivery. Fetocide was only opted for in a small number of cases with severe but non-lethal anomalies in dichorionic twins.

Attitudes of obstetrics and gynecology residents toward abortion participation: a Philadelphia area survey

Objective The objective of this study was to evaluate the willingness of Philadelphia obstetrics and gynecology residents to participate in three abortion procedures for various fetal conditions. Methods Anonymous questionnaires were distributed to 310 residents from 18 programs. The survey asked the residents whether they would participate in first trimester dilatation and evacuation (D&E), second trimester prostaglandin induction or second trimester D&E for the following conditions: lethal fetal anomaly, nonlethal anomaly with certain long-term functional consequences, possible long-term functional consequences, little or no long-term functional consequences and elective abortion of a normal fetus. Results Of the 148 respondents, the percentage of residents who would participate in a second trimester D&E for each fetal condition was significantly lower than that for a first trimester D&E (p≤.001). Additionally, for each abortion procedure, the participation rates consistently fell for lesser degrees of fetal severity. Participation was significantly associated with preferences regarding abortion legislation and personal abortion stance. Conclusion Resident attitudes regarding abortion participation were related to severity of the fetal condition, gestational age and procedure type.

Nurses’ Attitudes Toward Pregnancy Termination in the Labor and Delivery Setting

To examine nurses' attitudes toward pregnancy termination in the labor and delivery setting and the frequency of nurse refusal to care for patients undergoing pregnancy termination. Nonexperimental, descriptive study. Six central and northern California hospitals, including Level 1, 2, and 3 facilities. Seventy-five labor and delivery registered nurses. Anonymous survey with visual analog scales. Ninety-five percent of the nurses indicated they would agree to care for patients terminating a pregnancy because of fetal demise, 77% would care for patients terminating a fetus with anomalies that were incompatible with life, and 37% would care for patients terminating for serious but nonlethal anomalies, with a significant drop in agreement as gestation advanced. Few nurses would agree to care for patients undergoing termination for sex selection, selective reduction, or personal reasons. Nurses both accepting and refusing patient care assignments were criticized by coworkers. Clear guidelines should be established on how to handle nurse refusal to care for patients terminating pregnancy in advance. Open discussions should be encouraged between staff and management to minimize criticism.

Short‐rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report

The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second-trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21-year-old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short-rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non-lethal anomalies.

Multicystic dysplastic kidney: observations of contralateral disease in the fetal population.

To evaluate multicystic dysplastic kidney (MDK) and associated contralateral renal abnormalities in the fetal population, 27 cases detected and followed in utero were reviewed retrospectively. The sonographic assessment included estimation of amniotic fluid volume and interval growth, evaluation for non-genitourinary anomalies, and postnatal follow-up study. Contralateral renal anomalies were detected in 41% of the fetuses and included obstruction of the ureteropelvic junction, renal agenesis, renal hypoplasia, and bilateral MDK. The incidences of these malformations were compared with results of earlier studies of MDK in the pediatric and adult populations. Lethal anomalies, such as bilateral MDK and MDK associated with contralateral agenesis, are common (19% and 11%, respectively) in the fetal population; obstruction of the contralateral ureteropelvic junction, a nonlethal anomaly, was seen less commonly (7%). Perinatal death from lethal abnormalities may spuriously raise the incidence of nonlethal contralateral abnormalities in the pediatric and adult populations. Contralateral mild fetal pyelectasis, found in 15% of fetuses with MDK, was not clinically significant.

Early and Late Complications of Bladder Exstrophy Surgery at Al-Ribat University Paediaric Surgery Center 2006 - 2012

Background Exstrophy of the bladder is a very serious nonlethal anomaly. Many surgical techniques have been applied to manage exstrophy. The objective of this study was to identify early and late complications of bladder exstrophy surgery in Sudan. Methods This is a descriptive, retrospective and prospective small-scale hospital-based study conducted at Al-Ribat University Hospital for 6 years from January 2006 to June 2012. The study included 37 patients with urinary bladder exstrophy. The data were collected using a predesigned data sheet and analysed using the software SPSS version 18. Thirty-seven patients were studied, with a male to female ratio of 3:2. Eighteen patients were studied retrospectively, and Results the remaining 19 patients were followed prospectively. Sixty-five percent of the their life. Wound infection was an early complication in 17% of patients who underwent primary reconstruction, followed by wound dehiscence in 13% of patients. Only 9% of patients who underwent urinary diversion developed wound dehiscence. Late complications were urinary tract infections (UTIs), which were observed in 60.7% of patients who underwent primary reconstruction, followed by urinary tract stones in 13% of patients. Hydronephrosis was reported in 4.3% of patients and vesicoureteric reflux in 4.3% of patients. The stone impacted in the external opening of 4.3% of patients with primary reconstruction. Urinary tract stones developed in 14.7% of patients who underwent urinary diversion, and UTIs developed in 7.1% of patients. Fifty-two percent of patients with primary reconstruction developed total urinary incontinence, and 48% of patients were partially continent. No urinary incontinence was observed in the patients who underwent urinary diversion. Other rare complications included bowel adhesion, pyelonephrosis, perinephric abscess and vesical fistula. Conclusion Diversion is a suitable option for treating bladder exstrophy in those who live far away from surgical services. To ensure acceptable outcomes, patients should be followed up to check for hyperchloremia and malignancy.