Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study.

BACKGROUND: Twin pregnancies carry a higher risk of congenital and structural malformations, and pregnancy complications including miscarriage, stillbirth, and intrauterine fetal death, compared with singleton pregnancies. Carrying a fetus with severe malformations or abnormal karyotype places the remaining healthy fetus at an even higher risk of adverse outcome and pregnancy complications. Maternal medical conditions or complicated obstetrical history could, in combination with twin pregnancy, cause increased risks for both the woman and the fetuses. To our knowledge, no previous studies have evaluated and compared the outcomes of all dichorionic twin pregnancies and compared the results of reduced twins with those of nonreduced and primary singletons in a national cohort. These data are important for clinicians when counseling couples about fetal reduction and its implications. OBJECTIVE: This study aimed to describe and compare the risks of adverse pregnancy outcomes, including the risk of pregnancy loss, in a national cohort of all dichorionic twins-reduced, nonreduced, and primary singletons. In addition, we examined the implications of gestational age at fetal reduction on gestational age at delivery. STUDY DESIGN: This was a retrospective cohort study of all Danish dichorionic twin pregnancies, including pregnancies undergoing fetal reduction and a large proportion of randomly selected primary singleton pregnancies with due dates between January 2008 and December 2018. The primary outcome measures were adverse pregnancy outcomes (defined as miscarriage before 24 weeks, stillbirth from 24 weeks, or single intrauterine fetal death in nonreduced twin pregnancies), preterm delivery, and obstetrical pregnancy complications. Outcomes after fetal reduction were compared with those of nonreduced dichorionic twins and primary singletons. RESULTS: In total, 9735 dichorionic twin pregnancies were included, of which 172 (1.8%) were reduced. In addition, 16,465 primary singletons were included. Fetal reductions were performed between 11 and 23 weeks by transabdominal needle-guided injection of potassium chloride, and outcome data were complete for all cases. Adverse pregnancy outcome was observed in 4.1% (95% confidence interval, 1.7%-8.2%) of reduced twin pregnancies, and 2.4% (95% confidence interval, 0.7%-6.1%) were delivered before 28 weeks, and 4.2% (95% confidence interval, 1.7%-8.5%) before 32 weeks. However, when fetal reduction was performed before 14 weeks, adverse pregnancy outcomes occurred in only 1.4% (95% confidence interval, 0.0%-7.4%), and delivery before 28 and 32 weeks diminished to 0% (95% confidence interval, 0.0%-5.0%) and 2.8% (95% confidence interval, 0.3%-9.7%), respectively. In contrast, 3.0% (95% confidence interval, 2.7%-3.4%) of nonreduced dichorionic twins had an adverse pregnancy outcome, and 1.9% (95% confidence interval, 1.7%-2.1%) were delivered before 28 weeks, and 7.3% (95% confidence interval, 6.9%-7.7%) before 32 weeks. Adverse pregnancy outcomes occurred in 0.9% (95% confidence interval, 0.7%-1.0%) of primary singletons, and 0.2% (95% confidence interval, 0.1%-0.3%) were delivered before 28 weeks, and 0.7% (95% confidence interval, 0.6%-0.9%) before 32 weeks. For reduced twins, after taking account of maternal factors and medical history, it was demonstrated that the later the fetal reduction was performed, the earlier the delivery occurred (P<.01). The overall risk of pregnancy complications was significantly lower among reduced twin pregnancies than among nonreduced dichorionic twin pregnancies (P=.02). CONCLUSION: In a national 11-year cohort including all dichorionic twin pregnancies, transabdominal fetal reduction by needle guide for fetal or maternal indication was shown to be safe, with good outcomes for the remaining co-twin. Results were best when the procedure was performed before 14 weeks.

FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

BACKGROUND: Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. CASE PRESENTATION: We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers. Firstly, we identified a de novo, missense mutation (c.238C > G, p.(Leu80Val)) in a five-year old Indian boy who presented with periventricular nodular heterotopia, increased skin laxity, joint hypermobility, mitral valve prolapse with regurgitation and marked facial features (e.g. a flat face, orbital fullness, upslanting palpebral fissures and low-set ears). Secondly, we identified two cis-located FLNA mutations (c.7921C > G, p.(Pro2641Ala); c.7923delC, p.(Tyr2642Thrfs*63)) in a Bosnian patient with Ehlers-Danlos syndrome-like features such as skin translucency and joint hypermobility. This patient also presented with brain anomalies, pectus excavatum, mitral valve prolapse, pulmonary hypertension and dilatation of the pulmonary arteries. He died from heart failure in his second year of life. CONCLUSIONS: These two new cases expand the list of live-born FLNA mutation-positive males with connective tissue disease from eight to ten, contributing to a better knowledge of the genetic and phenotypic spectrum of FLNA-related disease.

Mosaic trisomy 15 in a liveborn infant.

With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, and other organ anomalies. Very few liveborns have survived the first year of life. We report here on a term infant with growth restriction and multiple congenital anomalies who was found to have mosaic trisomy 15. The proband presented with some frequently reported findings such as dysmorphic facies and overlapping fingers, and the uncommon finding of whorled hypopigmentation. Previously unreported findings include abnormal cerebral vasculature and dysplastic kidneys. We add this new phenotypic information to widen the spectrum previously reported and provide a review of the literature to date.

Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.

Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non-mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non-mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed.

Fatal fetal abnormality Irish live-born survival-an observational study.

The aim of the study was to provide accurate information regarding live-born infant survival after diagnosis of fatal fetal anomaly (FFA) to aid decision-making in respect of pregnancy management, and to ascertain the natural history of live-born infants with FFAs via a retrospective analysis of death records (2006-2018), from the National Paediatric Mortality Registry (source Central Statistics Office 2019). Diagnoses and survival times were ascertained from narrative records with further ascertainment and reconciliation of trisomies 13 and 18 cases by review of cytogenetic test records, the National Death Events Register and National Perinatal Epidemiology Centre data. During the study period, termination of pregnancy was not permitted under the Irish Constitution. Patients are live-born babies with fatal fetal anomalies whose deaths were registered in the Republic of Ireland. The main outcome measure was construction of anomaly-specific survival curves, or survival time range and median for those anomalies with rare occurrence. Survival curves for anencephaly, bilateral renal agenesis, thanatophoric dysplasia, trisomy 13, and trisomy 18 show that 90% (n = 95), 93% (n = 60), 100% (n = 14), 37% (n = 92) and 33% (n = 162), respectively, were deceased by 24 h and 98%, 100%, 100%, 73%, and 53%, respectively, by 1 week post-delivery. Survival time range and median were calculated for triploidy (3.5 h-20 days; 10.5 days), whose occurrence was rare. Anhydramnios, craniorachischisis, hydranencephaly and severe hydrocephalus were extremely rare and all deaths were neonatal deaths. Our results provide 13 years of national natural history data of live birth FFA survival. This provides objective information to aid obstetric counselling of couples upon diagnosis of an FFA.

[IPartial molar pregnancy with liveborn diploid fetus: case study and literature review]. / Grossesse molaire partielle avec fœtus diploïde vivant: à propos d'un cas et revue de la littérature.

Partial hydatiform mole (MHP) represents a spectrum of trophoblastic-related disorders occurring during pregnancy. Also known as embryonal mole, it is characterized by a recognizable ovum abnormality with vesicular transformation of villi but with recognizable placental appearance and amniotic cavity containing the fetus. First-trimester spontaneous abortion most commonly suggests the diagnosis. Partial moles rarely persist beyond the first trimester and are then a cause of maternal and fetal complications and diagnostic confusion. MHP of genetic origin is triploid with extra chromosome of paternal origin. The coexistence of normal fetal karyotype and MHP is exceptional. We report a rare case of partial molar pregnancy with liveborn diploid fetus in a 36-year-old woman diagnosed with threat of premature labour associated with placenta previa at 27 weeks of amenorrhea (WA).

Effect of frozen and fresh embryo transfers on the birthweight of live-born twins.

OBJECTIVE: To explore the influence of frozen embryo transfer (FET) and fresh embryo transfer (Fresh) on the birthweight of live-born twins. STUDY DESIGN: A total of 8482 live-born twins were studied. The proportions of small for gestational age (SGA) and large for gestational age (LGA), the mean birthweight and the z score of live-born twins in the two groups were compared. Multiple linear regression analysis was used to evaluate the relationship between confounding factors and the birthweight of live-born twins. RESULTS: The proportion of SGA infants significantly decreased as BMI increased (BMI < 20, 6.1 %; 20 ≤ BMI≤25, 4.1 %; BMI > 25, 3.6 %; P<0.05). The proportion of LGA infants significantly increased as BMI increased (BMI < 20, 20.5 %; 20 ≤ BMI≤25, 25.2 %; BMI > 25, 30.7 %; P<0.0001). The proportion of SGA infants was significantly lower in the FET group than in the Fresh group, whereas the proportion of LGA infants was significantly higher in the former than in the latter. The absolute mean birthweight of live-born twins was significantly higher in the FET group compared with the Fresh group (2579 ±â€¯458 vs. 2534 ±â€¯465, P < 0.0001). The mean z score of the FET group was also significantly higher than that of the Fresh group (0.420 vs. 0.240, P < 0.0001). Multiple linear regression analysis indicated that FET was a more significant factor than fresh embryo transfer in influencing the birthweight of live-born twins. CONCLUSION: FET significantly increased the birthweight of live-born twins compared with fresh embryo transfer.

Effects of temperature and temperature-humidity index on the reproductive performance of sows during summer months under a temperate climate.

Heat stress is known to influence sow reproduction, but it is unknown to which extent under temperate climates. Therefore, the impact of temperature and temperature-humidity index (THI) on the reproductive performance of sows during summer months from 2009 to 2011 were studied. Reproductive parameters of 22 264 inseminations and 21 610 resulting farrowings of 22 German commercial farms were analyzed. Climatic records were available from the nearest weather station. Effects of temperature and THI at different periods of the reproductive cycle were estimated from May to September where temperatures were expected to influence climatic conditions indoors. High temperatures and THI values 5 days pre- and 14 days post-breeding reduced litter size by 0.01 to 0.03 piglets (P < 0.05). Prior to farrowing, the number of liveborn piglets was reduced (P < 0.05) and of stillborns increased with rising climatic variables (P < 0.001). On the day of farrowing, reduced numbers of weaned piglets were observed when temperature and THI values were elevated (P < 0.05), but pre-weaning mortality was not influenced (P > 0.05). In conclusion, even under temperate conditions adverse effects of climatic variables on the reproductive performance of sows are present. Thereby, the number of liveborn piglets can be considered as the most sensitive parameter to heat stress. Considering the impact of climate change and predicted heat waves, strategies to mitigate the impact of heat stress are necessary.

Congenital cytomegalovirus infections and glycoprotein B genotypes in live-born infants: a prevalence study in Turkey.

BACKGROUND: Cytomegalovirus (CMV) infections are the leading cause of infectious hearing loss and central nervous system disease among children worldwide. In this study, we aimed to determine the birth prevalence of congenital CMV infection in live-born infants in Turkey. METHODS: In total, 944 consecutive live-born infants born from 926 pregnant women were included in this study. CMV-DNA was investigated in saliva samples of all newborns within the first 3 days after birth using TaqMan-based real-time PCR. RESULTS: The birth prevalence of congenital CMV infection in live-born infants was 1.91% (18/944), and all congenitally infected infants were asymptomatic at birth. The prevalence of congenital CMV infection was 16.7% (3/18) in twin pregnancies and 1.32% (12/908) in single pregnancies (p = 0.002). Genotyping analysis showed glycoprotein B-1 (gB1) to be the most frequently detected genotype at 83.3%. CONCLUSION: The study results suggest that the majority of congenital CMV infection in Turkey occurs following nonprimary maternal infection. We believe that congenital CMV infection and its long-term effects have been underestimated in our country, as infected infants are usually asymptomatic at birth.

Live-born trisomy 22: patient report and review.

Trisomy 22 is a common trisomy in spontaneous abortions. In contrast, live-born trisomy 22 is rarely seen due to severe organ malformations associated with this condition. Here, we report on a male infant with complete, non-mosaic trisomy 22 born at 35 + 5 weeks via caesarean section. Peripheral blood lymphocytes and fibroblasts showed an additional chromosome 22 in all metaphases analyzed (47,XY,+22). In addition, array CGH confirmed complete trisomy 22. The patient's clinical features included dolichocephalus, hypertelorism, flattened nasal bridge, dysplastic ears with preauricular sinuses and tags, medial cleft palate, anal atresia, and coronary hypospadias with scrotum bipartitum. Essential treatment was implemented in close coordination with the parents. The child died 29 days after birth due to respiratory insufficiency and deterioration of renal function. Our patient's history complements other reports illustrating that children with complete trisomy 22 may survive until birth and beyond.

Estudo das anomalias cromossômicas ocorridas em uma maternidade nos anos de 2010 a 2014 / Study of chromosomal abnormalities encountered in a maternity hospital between 2010 and 2014 / Estudio de las anomalías cromosómicas que ocurrieron en una maternidad en los años de 2010 a 2014

O presente estudo buscou identificar a existência de anomalias cromossômicas registradas nos prontuários de nascidos vivos em uma maternidade. Estudo retrospectivo que analisou as informações contidas nos prontuários dos arquivos do Serviço de Arquivamento Médico de uma maternidade do estado do Amazonas entre janeiro de 2010 e dezembro de 2014, e estudou-se a correlação de anomalias cromossômicas presentes com características maternas e do nascido vivo. Analisou-se 15.621 prontuários, destes 163 apresentaram defeitos congênitos, 15 foram diagnosticados com síndromes cromossômicas distribuídas em três tipos de anomalias: 13 indivíduos com Síndrome de Down, um com Síndrome de Patau e um com Síndrome de Dany-Walker. Este é o primeiro registro de ocorrência e perfil dos nascimentos com anomalias cromossômicas em uma maternidade. O resultado é de grande importância para a saúde pública do Estado. A realização de novos estudos poderá fornecer um melhor panorama sobre diferentes doenças genéticas daquele estado (AU).

This study sought to identify the existence of chromosomal abnormalities recorded in the medical records of live-born infants in a maternity hospital. This retrospective study analyzed the information contained in the medical records of the archives of the Medical Archiving Service of a maternity hospital in Amazonas state between January 2010 and December 2014, with the correlation between the chromosomal abnormalities and the characteristics of the mothers and the live-born infants also studied. A total of 15,621 records were analyzed, of these 163 presented congenital defects, with 15 diagnosed with chromosomal syndromes, divided into three types of anomalies: 13 individuals with Down syndrome, one with Patau syndrome and one with Dandy-Walker syndrome. This is the first registration of the occurrence and profile of births with chromosomal abnormalities in a maternity hospital. The result is of great importance for the public health service of the state. The performance of further studies may provide a better overview of the different genetic diseases of this state (AU)

Este estudio tuvo la finalidad de identificar la existencia de anomalías cromosómicas registradas en los prontuarios de nacidos vivos en una maternidad. Estudio retrospectivo hecho por medio de análisis de informaciones contenidas en los prontuarios de los archivos del Servicio de Archivo Médico de una maternidad del estado de Amazonas entre enero de 2010 y diciembre de 2014. Fue examinada la correspondencia de anomalías cromosómicas presentes con características maternas y del nacido vivo. Se analizaron 15.621 prontuarios, de los cuales 163 presentaron defectos congénitos, 15 fueron diagnosticados con síndromes cromosómicas distribuidas en tres tipos de anomalías: 13 individuos con Síndrome de Down, un con Síndrome de Patau y un con Síndrome de Dany-Walker. Este es el primero registro de ocurrencia y perfil de los nacimientos con anomalías cromosómicas en una maternidad. El resultado tiene gran importancia para la salud pública del estado. La realización de nuevos estudios podrá traer un mejor panorama acerca de distintas enfermedades genéticas del estado (AU).

Docimasia hepática y ausencia de cuidados mínimos: serie de casos / Docimasia liver and lack of minimal care: case series

Para definir si un lactante nació vivo o muerto, se ha practicado por algún tiempo la prueba de sumersión del pulmón en agua, pero diversas condiciones la alteran y además ella no tiene en cuenta los otros criterios de nacido vivo definidos por la Organización Mundial de la Salud (OMS) como los latidos del corazón, los movimientos espontáneos o las pulsaciones del cordón umbilical; por lo tanto, se requiere de pruebas adicionales. Presentamos tres casos de fetos abandonados con hallazgo histológico de hepatocitos claros. Este hallazgo en hígados de recién nacidos puede contribuir a establecer la vitalidad en el momento del nacimiento...

In the case of infant death, a coroner routinely performs lung submersion in water to establish if a child had been liveborn or stillborn. However, this test fails to provide absolute proof because the lungs may have been affected by diverse conditions. Furthermore, it does not allow for liveborn criteria defined by WHO such as heartbeat, spontaneous movements, or umbilical cord pulse. Therefore, additional tests are needed. We present three cases of abandoned newborn with a histological finding of clear hepatocytes. This finding in fetal livers can help establish vitality at the time of birth...