Trisomy 18: Fetal ultrasound findings at different gestational ages

The aim of this article is evaluate the sonograhic findings in fetuses with trisomy 18 at different gestational ages. The cases were recruited from pregnant women, who underwent to prenatal diagnosis in the period from October 1995 to September 2006. Seventy-one fetuses with trisomy 18 were diagnosed. On review of the sonograms the majority of these cases had ultrasound anomalies (sensitivity of 91.5%). The most frequent anomalies were abnormalities of extremities (40.8%) and fetal growth restriction (35.2%). More frequently (54.9%) two or more anomalies were present. Nearly all fetuses with trisomy 18 had sonographic abnormalities. Likely improved high-resolution equipment and attention to details by skilled operators led to the detection of most anomalies to trisomy 18. Knowledge of types of specific ultrasound findings can improve prenatal diagnosis in order to provide invasive procedures only when indicated, and to avoid amniocentesis when ultrasound signs are not observed in women at high risk from positive biochemical testing.     

Fetal orbital and ocular biometry at different gestational ages

IntroductionDetermination of orbital and ocular growth patterns in fetal life is necessary for early diagnosis of facial malformation syndromes. We aim to establish the normative data for growth of different ocular and orbital parameters. These parameters may also correlate with fetal anthropometry.MethodsFifty normal fetuses at different gestational ages were studied for anthropometric, orbital and ocular growth. The parameters measured included weight, height, biparietal diameter, depth and width of the orbit, interorbital distance, transverse and vertical corneal diameters, axial and transverse diameters of the eyeball and diameter of the lens. Normative values were determined for orbital and ocular parameters in fetuses of 11–36 gestational weeks.ResultsThe orbital and the ocular parameters demonstrated significant positive correlation with age and biparietal diameter. However, the lens diameter did not show any significant correlation with either age or biparietal diameter. Among orbital parameters interorbital distance showed maximum correlation with biparietal diameter. The correlations of orbital and ocular parameters were better defined in males.ConclusionsThe gestational age specific normative data generated in this study may provide reference for comparing the growth of various orbital and ocular parameters and may aid in early diagnosis of fetal maldevelopment syndromes.     

Examination of trisomy 13, 18 and 21 foetal tissues at different gestational ages using FISH

In man high levels of aneuploidy are seen in spontaneous abortions. Very few autosomal trisomies survive to birth, the three most common being those for chromosome 13, 18 and 21 giving rise to the syndromes named Patau, Edwards and Down respectively. Since the majority of these spontaneously abort, what makes the survivors different from the aborters? Could it be that they have tissue specific mosaicism with the additional normal cell line supporting survival? In this study fluorescence in situ hybridisation was used as a convenient way to detect trisomy in interphase cells. To study the level of mosaicism across gestation, different tissues from 21 trisomic foetuses were analysed using probes for chromosome 13, 18, 21, X and Y. Two trisomy 18 foetuses exhibited mosaicism. Two others, one trisomy 13 and one trisomy 18 had mosaic placentas. There was no clear association between the limited mosaicism seen and severity of the phenotype. We conclude that at least for this sample set, tissue-specific mosaicism was not likely to be responsible for potential survival to birth.     

Fetal size at the 32nd gestational week is associated with the risk of breech presentation at term birth

Objectives

The association patterns between breech presentation at birth and fetal biometry at the first, second, and third trimesters, newborn size but also maternal age, body height, prepregnancy weight status as well as gestational weight gain, were analyzed using a dataset of 4501 singleton term birth in Vienna, Austria.

Methods

In this medical record-based study, fetal biometry was reconstructed based on the results of three ultrasound examinations conducted at the 11th/12th, 20th, and 32nd gestational weeks. Head dimensions, abdominal dimensions, and femur length were determined by sonography. Birth weight, birth length, and head circumference were measured immediately after birth.

Results

The total breech presentation rate at birth was 6.2%. Breech newborns were significantly (p < 0.001) shorter and lighter at the time of birth, their head circumferences, however, were significantly larger (p = 0.001). At the 32nd week, breech fetuses showed significantly smaller biparietal breadths, but highly significantly longer heads. Their abdominal dimensions were significantly smaller, and their femora were shorter. Higher maternal age, and a longer, but narrower fetal head as well as smaller abdominal dimensions at the 32nd gestational week were independently related to a higher risk of breech presentation at the time of birth.

Conclusions

Fetuses who remain in a breech presentation until term birth (≥37 gestational weeks) differed significantly in head and abdominal dimensions from cephalic fetuses from the 32nd gestational week onwards.     

正丁醇替代无水乙醇和二甲苯在制作大鼠全胚切片中的应用 

目的 探索一种以正丁醇替代无水乙醇和二甲苯制作不同胎龄大鼠全胚切片的简便方法。方法 收集胚龄14d（E14）、E16、E18、E20大鼠胚胎,固定及低浓度乙醇脱水后,部分标本按传统方法用无水乙醇脱水和二甲苯透明(无水乙醇-二甲苯法),另一部分标本用正丁醇脱水、透明(正丁醇法)。所有标本进行石蜡包埋、切片、H     

Cpne5蛋白在新生及成年小鼠各组织及其在不同胎龄胎鼠脑组织中的表达

目的:检测小鼠Cpne5蛋白在脑发育过程及不同组织中的表达水平,为Cpne5基因的功能研究提供线索。方法:提取新生、成年小鼠多种组织蛋白及11.5,12.5,13.5,14.5,15.5,17.5 d胎鼠脑组织蛋白,用免疫印迹法检测Cpne5蛋白表达量。结果:Cpne5蛋白表达于新生4 d小鼠的全部受检组织,大、小脑表达量最少,眼和肺的表达量高。成年小鼠检测结果相似,Cpne5蛋白的组织分布广泛,但脑组织含量低,表达量以卵巢、睾丸为高,其次为肺和心脏。胎脑的Cpne5蛋白表达量在胎鼠11.5、12.5 d较高,13.5 d降低,14.5至17.5 d再次升高,出生后又降低。结论:Cpne5蛋白在新生和成年小鼠广泛表达于各种受检组织,脑组织表达量最低;小鼠胎脑发育过程中Cpne5蛋白表达呈现先高后低,再升高再降低的变化趋势。     

Potential differences between mother and foetus at different gestational ages in the rat, rabbit and guinea-pig

1. Potential differences associated with fluid compartments of rat, rabbit and guinea-pig conceptuses have been measured. [Na(+)] and [Cl(-)] in maternal plasma and amniotic fluid from these three species were also determined.2. Transplacental potential differences of about 15 mV (foetus positive) were found in the rat, of approximately 0 mV in the rabbit, and of about 18 mV (foetus negative) in the guinea-pig.3. Amniotic fluid potential differences appeared to arise indirectly from the transplacental potential difference in the rat, from the foetal gastric mucosa in the rabbit, and possibly from the foetal gastric mucosa and indirectly from the placenta in the guinea-pig.4. The results are discussed in the context of Na(+) transfer to the foetus, and on this basis tend to question the general assumption that almost all Na(+) reaching the foetus passes across the placenta.     

不同胎龄新生儿血脂与母亲血脂水平关系

本文对各组胎龄的新生儿及其母亲共8o对按微量指血酶法进行母婴配对的血清胆固醉和甘油脂的测定，结果表明母亲的血脂水平与新生儿血脂有明显的正相关关系，且孕妇的血脂水平偏高者＊匕率较高（其中胆固醇偏高者占41．8％，甘油三月旨偏高者占32．5％），而母亲血脂水平偏高者其新生儿血脂水平亦明显高于母亲血脂水平正常者的新生儿，又母亲的血脂水平对新生儿的影响从不同胎龄分组比较看出主要表现在37周以上者，提出早期做好预防新生儿高血脂工作的重要性，合理指导孕妇的营养膳食的必要性．对确保小儿健康发育均有意义。     

Ratio of fetal to maternal DNA is less than 1 in 5000 at different gestational ages in maternal blood

Using Southern hybridization with the DNA probe pY3.4, we were not able to detect fetal DNA in blood of 36 pregnant women carrying male fetuses. Gestational ages ranged from 8-40 weeks of pregnancy. Using the same DNA probe, we were able to detect the male-specific signal in experimental dilution series down to 1/5000 on autoradiograms. We conclude that the ratio of fetal DNA in maternal circulation, in contrast to previous estimations, must be lower than 1/5000.     

Distribution of ions and electrical potential differences between mother and foetus at different gestational ages in goats and sheep

1. Potential differences associated with the compartments of goat and sheep conceptuses have been measured in vivo and in vitro during the last half of gestation and the osmolarity, and the [Na(+)], [K(+)], and [Cl(-)] of maternal and foetal plasma and amniotic and allantoic fluid taken from these animals were determined.2. The potential difference (p.d.) patterns of both goats and sheep were the same.(a) The transplacental p.d. was about 71 mV (foetus negative) in the goat, and about 51 mV (foetus negative) in the sheep.(b) The amniotic fluid p.d. (i.e. the p.d. measured between the maternal extracellular fluid and the amniotic fluid) decreased as gestation advanced (from 110 to 70 mV in the goat, and 90 to 50 mV in the sheep) and was equal to the sum of the transplacental p.d. and a p.d. between the foetal blood and the amniotic fluid. The amniotic fluid was negative relative to both maternal and foetal blood.(c) An allantoic fluid p.d. (measured between the maternal extracellular fluid and the allantoic fluid) of about 107 mV in the goat, and about 96 mV in the sheep, was equal to the sum of the transplacental p.d. and a p.d. between the foetal blood and the allantoic fluid. The allantoic fluid was negative relative to both maternal and foetal blood.(d) The results suggest that p.d.s of the fluid sacs arise from activity between the foetal fluids and the blood perfusing the foetal membranes, and not from activity across the full thickness of the foetal membranes.3. The ionic concentrations were considered in relation to the electrochemical gradients found between the maternal and foetal fluid compartments to determine whether the ions were distributed according to electrochemical equilibrium.(a) It seems that ions in the amniotic fluid tend to equilibrate with foetal plasma, and not with maternal plasma or allantoic fluid, that changes in the [Na(+)] and [K(+)] of amniotic fluid can be accounted for largely in terms of passive factors, and that variations in the [Cl(-)] are associated with activity of an electrogenic Cl(-) pump directed from the foetal blood into the amniotic fluid.(b) It appears that ions in the allantoic fluid can exchange with those of both maternal and foetal plasma, that an electrogenic pump effects absorption of Na(+) from the allantoic fluid into the foetal blood, and that the [K(+)] and [Cl(-)] of allantoic fluid are maintained largely by passive exchange under the action of electrochemical gradients between maternal plasma and allantoic fluid, and between foetal plasma and allantoic fluid.4. The results considered in the context of Na(+) passage between mother and foetus call in question the general assumption that all Na(+) reaches the foetus by passing across the placenta.     

Clinical profile of Angelman syndrome at different ages

We describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including the anamnestic data, the clinical and the behavioral attributes at different ages. The clinical picture of AS is most distinct between the ages of 2–16 years. Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike movements, typical stature, wide based gait) beside the mental retardation and (almost) absence of speech, which is a universal trait. The diagnosis in infants is based on only a limited number of clinical characteristics or on anamnestic data. However, if these occur in combination, they are indicative of AS. In older patients, the diagnosis may be hampered in part because of the changing behavioral characteristics and the decreasing frequency of fits. Other manifestations, such as scoliosis, may become more pronounced with age. © 1995 Wiley-Liss, Inc.     

Differences in mortality and morbidity according to gestational ages and birth weights in infants with trisomy 18

The aim of this study was to clarify the effects of gestational age and birth weight on outcomes of the infants. Medical records of 36 infants with trisomy 18 admitted to Tokyo Women's Medical University Hospital from 1991 to 2012 were reviewed retrospectively. We compared clinical characteristics between term infants (n = 15) and preterm infants (n = 21). There were one very‐low‐birth‐weight (VLBW) term infant (5%) and 12 VLBW preterm infants (80%). Although there were no significant differences in clinical characteristics and provided management between the two groups, none of the preterm infants achieved survival to discharge. On the other hand, 6 of 21 term infants (29%) achieved survival to discharge (P < 0.05). Similar results were obtained for comparisons between the VLBW infants and non‐VLBW infants. Multiple logistic regression analysis revealed that shorter gestational age had a more negative impact than lower birth weight to survival to discharge in infants with trisomy 18. In both preterm and term groups, the infants who died before 30 days commonly died of respiratory failure or apnea. Whereas, the infants who survived more than 30 days mostly died of heart failure. © 2015 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.     

Ethnic variation in the size of infant at birth

The impact of ethnicity and other maternal factors (BMI, parity, glucose tolerance, gestational age) on the size of the infant at birth was investigated in a relatively low socioeconomic status, multi-ethnic population at San Francisco General Hospital. A sample of 2,069 infants born to mothers of black, non-Hispanic white, Hispanic, and Chinese descent and whose mothers had received prenatal care at San Francisco General Hospital were studied. Maternal size, pregnancy history, and blood glucose were determined prenatally at 26–28 weeks gestation. Anthropometry was performed on the infant within 72 hours of birth. Black and Chinese infants were the lightest in weight, while Hispanic infants were the heaviest. When correction was made for maternal factors black infants were shown to be significantly (P < .05) lighter in birth weight than non-Hispanic white, Chinese, or Hispanic infants. Black infants were also significantly shorter in birth length and smaller in chest circumference. Chinese infants had significantly (P < .05) greater adiposity, as indicated by the sum of skinfold measurements, than both black and Hispanic infants. These findings are relevant to current practices in neonatal growth categories which are determined solely by birth weight and do not account for variations in body composition. Comparisons with a relatively higher socioeconomic status sample from Kaiser-Permanente Hospital (Oakland) shows a similar prevalence of low birth weight among blacks. These results support other results that ethnicity is a major independent influence on the weight of the newborn.