Amniotic fluid cell morphology in early antenatal prediction of abortion and low birth weight.

The morphology of rapidly adherent (RA) amniotic fluid cells was examined in 201 pregnant women referred for amniocentesis because of two sequential high serum alpha-fetoprotein (AFP) concentrations. Out of 43 amniotic fluid samples containing increased amounts of AFP, 42 had neural or peritoneal cells predominating among the RA cells, the outcome being an infant with a neural-tube defect or exomphalos. In the other case with a raised amniotic fluid AFP concentration but only anterior placental cells the infant was normal. In 25 amniotic fluid samples containing normal amounts of AFP distinctive new patterns of RA cells were observed, termed fetal distress cells. These pregnancies resulted in five spontaneous abortions and 20 infants with birth weights under 2500 g. Fetal distress cells were not detected in any of the remaining 133 samples. One pregnancy was terminated because of a chromosomal abnormality, and there were seven twin pairs not recognised on ultrasonography before amniocentesis. The remaining 125 pregnancies went to term, resulting in infants with birth weights exceeding 2500 g. The results suggest that RA-cell morphology will prove to be of value in the early antenatal prediction of spontaneous abortion and low birth weight.     

Plasmodial pigmentation of placenta and outcome of pregnancy in West African mothers.

In a region where falciparum malaria is endemic and where pregnant women traditionally receive only curative treatment for parasitaemias and no chemoprophylaxis 65 placental biopsy specimens were examined histologically for malaria pigment. Twenty seven placentas had pigment, but parasitaemias had been diagnosed antenatally in only 12 of these women despite their frequent attendance at antenatal and other clinics. The incidence of parasitaemia in pregnant primigravidas was 17.7%, seven times greater than that in lactating primiparous mothers; pregnant primigravidas also had the highest incidence (67%) of pigmented placentas. First born babies with pigmented placentas had a mean (SD) birth weight of 2580 (260) g, significantly less than the 3150 (400) g of unaffected first babies. All babies weighing less than 2500 g at birth had pigmented placentas. Pigmentation was associated with parasitaemias in the second half of pregnancy, and, although some recovery from early parasitaemias may occur, the fetoplacental unit is inadequately protected by curative treatment alone. Chemoprophylaxis currently remains the procedure of choice.     

Results of cytogenetic examinations in 255 married couples with a history of infertility]

The results of cytogenetic examination carried out in 255 couples with a history of infertility have been analysed. Chromosomal aberrations have been detected in 15 examinations (6.7%) with predominance of translocations (mutual - 3.6%; Robertson' - 1.3%). Identified aberrations have been noted in 9 women and 6 men. The obtained results have been analysed in relation to the number of abortions, dead and live newborn babies with inherited abnormalities. It was found that the incidence of chromosomal aberrations increases with the number of the spontaneous abortions in anamnesis. Such aberrations have also been more frequent in the families in which spontaneous abortions have been accompanied by other fertility disorders.     

A cytogenetic study of the human chorion for the purpose of the prenatal diagnosis of hereditary diseases

Cytogenetical investigation of 50 diagnostic chorionic villus samples from women with a high risk of giving birth to babies with chromosomal and genic pathology, and of 128 chorionic samples obtained from medical abortions, both on the 8-12th weeks of gestation was performed by means of original direct chromosomal analysis. Chromosomal anomalies were found in 6 cases of diagnostic chorion biopsies (12%) and in 4 cases (3%) of medical abortions. The former group included 5 embryos with autosomal trisomy (4--Ts21 and 1--Ts13) and one embryo with monosomy 18. The latter group contained 2 embryos with X-chromosome monosomy and 2 other with chromosomal mosaicism. A significant prevalence of the female sex was found in the diagnostic group (sex ratio 0.56), but not in the medical abortion one (sex ratio 1.0). Analysis of routine chromosomal preparations and those after in situ hybridization with X-chromosome alfoid-probe YAP 1-10 revealed polyploidy in average in 0.8-1% chorion cells. The feasible causes of sex ratio distortion in embryos of diagnostic group and factors responsible for the rate of polyploidy are discussed. High reliability of originally elaborated direct "shaking-blotting" method of chromosomal preparations from chorionic villus samples is stressed.     

Mothers' birth weight and survival of their offspring: population based study.

OBJECTIVE: To test the hypothesis that a baby''s survival is related to the mother''s birth weight. DESIGN: Population based dataset for two generations. SETTING: Population registry in Norway. SUBJECTS: All birth records for women born in Norway since 1967 were linked to births during 1981-94, thereby forming 105104 mother-offspring units. MAIN OUTCOME MEASURES: Perinatal mortality specific for weight for offspring in groups of maternal birth weight (with 500 g categories in both). RESULTS: A mother''s birth weight was strongly associated with the weight of her baby. Maternal birth weight was associated with perinatal survival of her baby only for mothers with birth weights under 2000 g. These mothers were more likely to lose a baby in the perinatal period (odds ratio 2.3, 95% confidence interval 1.4 to 3.7). Among mothers with a birth weight over 2000 g there was no overall association between mother''s weight and infant survival. There was, however, a strong interaction between mother''s birth weight, infant birth weight, and infant survival. Mortality among small babies was much higher for those whose mothers had been large at birth. For example, babies weighing 2500-2999 g had a threefold higher mortality if their mother''s birth weight had been high (> or = 4000 g) than if the mother had been small (2500-2999 g). CONCLUSION: Mothers who weighed less than 2000 g at birth have a higher risk of losing their own babies. For mothers who weighed > or = 2000 g their birth weight provides a benchmark for judging the growth of their offspring. Babies who are small relative to their mother''s birth weight are at increased risk of mortality.     

Is perinatal care in southwestern Ontario regionalized?

OBJECTIVE: To determine whether perinatal care in southwestern Ontario is regionalized, to identify trends over time in referral patterns, to quantify trends in perinatal death rates and to identify trends in perinatal death rates that give evidence of regionalization. DESIGN: Cohort study. SETTING: Thirty-two hospitals in southwestern Ontario (1 level III, 1 modified level III and 30 level II or I). PATIENTS: All pregnant women admitted to the hospitals and their infants. MAIN OUTCOME MEASURES: Antenatal and neonatal transfer status, live-born with discharge home alive from hospital of birth, stillborn, and live-born with death before discharge. RESULTS: Between 1982 and 1985 the antenatal transfer rate increased from 2.2% to 2.8% (p less than 0.003). The proportion of births of infants weighing 500 to 1499 g increased from 49% to 69% at the level III hospital. The neonatal transfer rate increased from 26.2% to 47.9% (p less than 0.05) for infants in this birth-weight category and decreased from 10.2% to 7.1% (p less than 0.03) for infants weighing 1500 to 2499 g. The death rate among infants of low birth weight was lowest among those born at the level III centre and decreased at all centres between 1982 and 1985. CONCLUSIONS: Perinatal care in southwestern Ontario is regionalized and not centralized; regionalization in southwestern Ontario increased between 1982 and 1985.     

Five Years' Experience with Intrauterine Transfusion

Five years'' experience with intrauterine transfusion involving 94 transfusions on 50 fetuses forms the basis of the paper. Twenty-three fetuses survived, which represents an overall salvage of 46%. Of 22 fetuses who received intrauterine transfusions before 28 weeks'' gestation, seven (31.9%) survived, which justifies the attempt. Of 28 fetuses who received intrauterine transfusions after 28 weeks'' gestation, 16 (57.1%) survived, which compares favourably with other series. A comparison of two different procedural techniques shows no statistically significant difference in ultimate results. Indications for amniocentesis are outlined and intrauterine transfusion was advised if the optical density difference fell in Liley''s zone III (or a very high zone II) and rose at a rate which anticipated a zone III reading prior to 32 weeks'' gestation. A pediatric assessment and therapeutic management of the 33 live births are presented. Twenty-eight babies received exchange transfusions. Five were excluded for reasons outlined in the text. Ten of the live-born died neonatally. The 23 survivors continue to thrive mentally and physically and follow-up continues.     

Quality of antenatal care and its dose-response relationship with birth weight in a maternal and child health training institute in Bangladesh

Four hundred and sixty-five pregnant women and their newborn babies were studied at a maternal and child health training institute in Dhaka, Bangladesh, between July 2002 and June 2003 with the objective of (1) examining the relationship between birth weight and maternal factors, and, if there was a dose-response relationship between quality of antenatal care and birth weight, (2) predicting the number of antenatal visits required for women with different significant characteristics to reduce the incidence of low-birth-weight babies. The study revealed that 23.2% of the babies were of low birth weight according to the WHO cut-off point of <2500 g. Mean birth weight was 2674.19+/-425.31 g. A low birth weight was more common in younger (<20 years) and older (> or =30 years) mothers, the low-income group and those with little or no education. The mean birth weight of the babies increased with an increase in quality of antenatal care. The babies of the mothers who had 6+ antenatal visits were found to be 727.26 g heavier than those who had 1-3 visits and 325.88 g heavier than those who had 4-5 visits. No significant relationship was found between number of conception, birth-to-conception interval, BMI at first visit, sex of the newborn and birth weight. Further, from multiple regression analysis (stepwise), it was revealed that number of antenatal visits, educational level of the mother and per capita yearly income had independent effects on birth weight after controlling the effect of each variable. Using multiple regression analysis, the estimated number of antenatal visits required to reduce the incidence of low-birth-weight babies for women with no education and below-average per capita income status was 6; the number required for women with no education and above-average per capita income status was 5; and that for women with education and with any category of income status was 4 visits. So there is a need to stratify women according to their income and educational status so that, along with other measures, the required number of antenatal visits can be estimated beforehand to reduce the incidence of low-birth-weight babies.     

Distributions of birth weight in seven Dublin maternity units.

Differences in birthweight distribution among babies born to Dublin residents during one year in seven maternity units were analysed. Large differences were found between the hospitals. The evidence indicated that most of the difference was attributable to the differing socioeconomic profile of the mothers in the hospitals. The socioeconomic gradients shown by the hospitals in the proportions of babies weighing less than or equal to 2500 g, less than or equal to 3000 g, and 3001-4499 g diverged with increasing socioeconomic disadvantage. Steepest gradients were found in hospitals where the socioeconomic disadvantage was greatest, and vice versa. The differences between the hospitals in the socioeconomic gradient of birthweight performance were tentatively ascribed to some sort of catchment area effect, which added to the disadvantage of the already most disadvantaged mothers. Differences in antenatal care and induction of labour between hospitals were not assessed but were thought unlikely to have made a major contribution to the differences in socioeconomic gradient.     

Home births in England and Wales, 1979: perinatal mortality according to intended place of delivery.

A survey was carried out of all 8856 births occurring at home in England and Wales in 1979. Of these births, 67% had been booked for delivery at home, 21% had been booked for delivery in hospital, 3% had not been booked, and for 9% the intended place of delivery was unknown. The perinatal mortality varied almost 50-fold according to the intended place of delivery, ranging from 4.1/1000 births in those booked for delivery at home to 196.6/1000 unbooked births. Deliveries that occurred at home but had been booked for a hospital consultant unit were associated with a perinatal mortality of 67.5/1000. Births that had been booked for delivery at home included the smallest proportion of babies of low birth weight: 2.5% weighed 2500 g or less compared with 18% of those booked for consultant units and 29% of those not booked. Within these low birthweight groups there were noticeable differences in perinatal mortality; births booked to occur at home had the lowest mortality and unbooked births had the highest. Perinatal mortality among babies who weighed more than 2500 g was generally low irrespective of the intended place of delivery; the only exception was in babies whose delivery had not been booked. In all groups perinatal mortality was considerably higher in nulliparous than parous women. Women booking a delivery at home are clearly a selected group, and some may have been transferred to hospital during labour and were thus not included in the survey. Nevertheless, these data suggest that the perinatal mortality among births booked to occur at home is low, especially for parous women.     

Chromosomal abnormalities in the Kaiser-Permanente Birth Defects Study, with special reference to contraceptive use around the time of conception

Chromosomal abnormalities were studied in 33,551 abortions and births to women whose contraceptive histories had been recorded at their first antenatal visit in 1975-1977. Chromosome examinations were performed exclusively on clinical grounds. There were 45 de novo abnormalities detected (1.34/1,000); three of them were detected at amniocentesis. Trisomy 21 was observed in 27 cases (0.80/1,000), trisomy 18 in nine (0.27), other trisomies in three (0.09), and translocations or deletions in five (0.15). One case of triploidy and six cases of inherited abnormalities were detected. There were no significant racial variations. No increase in risk for chromosomal abnormalities was found among women who had used oral contraceptives prior to becoming pregnant or among women who experienced oral contraceptive breakthrough pregnancies. Two cases of trisomy 18 were observed among the 814 deliveries following oral contraceptive breakthrough conceptions (2.46/1,000), two cases of trisomy 21 occurred in 338 births following failures of rhythm contraception (5.92/1,000), and no cases of trisomy 21 or 18 among the 1,569 women using spermicides at the time of conception.     

Prenatal diagnosis and outcome of pregnancy in 2036 women investigated by amniocentesis

Summary The report presents the indications for prenatal diagnosis, the results from amniocentesis and details of outcome of pregnancy in 2036 women. Aneuploidy was found in 26 fetuses (1.3%) including 16 with trisomy 21 and 9 sex chromosome abnormalities. There were 38 balanced chromosomal rearrangements (1.9%): 23 of these (1.1%) were pericentric inversions of a number 9 chromosome. Only twoof the chromosomal abnormalities were found in other than those mothers referred for maternal age of 35 or over. Concern is expressed at the low referral rate for older mothers in the population served (only 25% of those over 40 years). Failure of amniotic cell culture occurred in 2.8% of cultures. Maternal cell contamination was detected in 23 cultures (1.1%) with four errors in reported fetal sex. Total error estimate was 0.5%. There were 20 in vitro artefacts (1.0%) with no reporting errors. Neural tube defects were identified in 28 fetuses and there were three false-positive and one false-negative results. Data on outcome of pregnancy was available from 1805 pregnancies (96.5%): 1295 were normal (71.7%) and 510 (28.3%) showed some abnormality. Pregnancy was terminated for fetal abnormality in 53 cases (2.9%) and fetal loss occurred in 65 (3.7%). Methods, quality control, safety and service considerations are discussed. It is suggested that amniocentesis should be restricted to centres where the greatest expertise is available. The service should be improved to meet the needs of a greater number of patients. The series is compared with other studies of over 1500 cases.     

Glycosylated haemoglobin concentrations in mothers of large babies.

Mothers who have big babies may have had abnormal glucose tolerance during pregnancy. Glycosylated haemoglobin (HbA1) concentrations were measured on the first or second day after delivery in 50 women who had had babies weighing over the 95th centile for gestational age and in 50 women who had had normal-sized babies (controls). Nine of the mothers of big babies but only one of the controls had an HbA1 concentration above the normal range. All the women had normal glucose tolerance and HbA1 concentrations six weeks after delivery. Measuring HbA1 concentration in the first two days after delivery in mothers of large babies may identify gestational diabetics.     

The effect of high birth weight (400 g or more) on the weight and height of adult men and women

Three hundred and twenty eight examined adult men and 346 examined adult women were macrosomic at birth (4000 g or over). The control group consisted of 564 adult men and 749 adult women with birth weights of 2500 to 3999 g. Both male and female macrosomic babies achieve greater weights and heights in adulthood than those in the control group. There are more overweight and obese men in the macrosomic group than in the control group and the same is true of the women (p < 0.001). The mean values of the BMI (body mass index) for the macrosomic adults are greater than those for the control group (p < 0.001). Fetal macrosomia is a good predictor of the weight and height of adult men and women.     

Perinatal mortality rates in isolated general practitioner maternity units.

OBJECTIVE--To determine the perinatal mortality rate among normally formed, singleton babies with birth weights greater than or equal to 2500 g in Bath health district based on the intended place of delivery at the time of onset of labour or at the time of diagnosis of intrauterine death. DESIGN--The numbers of live births and stillbirths were collected monthly returns from the maternity units concerned. Deaths of infants aged less than or equal to 1 week were collected in the same returns. The intended place of delivery was confirmed at the monthly perinatal mortality meeting, during which maternal and fetal factors were discussed. SETTING--A rural health district of 400,000 population where one third of all deliveries occurred in seven isolated general practitioner maternity units, 8% in the integrated general practitioner unit, and the remainder in the consultant unit. SUBJECTS--All babies of women whose deliveries were booked in the district before the onset of labour or the diagnosis of intrauterine death, excluding twins, babies with lethal congenital malformations, and those less than 2500 g. MAIN OUTCOME MEASURES--Outcome of all deliveries and parity of mothers. RESULTS--14,415 Deliveries were analysed. The perinatal mortality rate was 2.8/1000 births in the consultant unit (7950 deliveries), 4.8 in the isolated general practitioner units (5237 deliveries), and zero in the integrated general practitioner unit (1228 deliveries). Perinatal deaths attributable to asphyxia were more common in the isolated general practitioner units (1.5 per 1000) than the consultant unit (0.6 per 1000). The perinatal mortality rate among babies born to nulliparous women was 3.2/1000 births in the consultant unit and 5.7 in the isolated general practitioner units; for those born to multigravid women it was 2.4 and 4.2 respectively. CONCLUSIONS--The outcome of delivery was not influenced by parity. Both antenatal and intrapartum care were responsible for the higher perinatal mortality rate in the isolated general practitioner units. The integrated unit, which shared midwifery staff with the consultant unit, seemed to work well. Analysis by intended place of delivery at the time of onset of labour or diagnosis of intrauterine death suggested that the care given in isolated units needs to be improved, perhaps by better training of general practitioners and consultant supervision of antenatal care.     

Prevalence of congenital anomalies at birth among offspring of women at risk for a genetic disorder and with a normal second-trimester ultrasound.

The goal of this study was to determine the prevalence and the nature of congenital anomalies found at birth in offspring of women who had a normal second-trimester ultrasound and/or amniocentesis. Two groups of women were studied in our prenatal diagnosis clinic between 1991-1997. Group 1 consisted of pregnant women who had an amniocentesis for advanced maternal age (AMA), or for familial chromosomal or monogenic disorders. Group 2 consisted of pregnant women attending the prenatal diagnosis clinic and who had no indication for amniocentesis. Those with an abnormal ultrasound and/or amniocentesis were excluded. At the time of delivery, a questionnaire was sent pertaining to perinatal complications and the anomalies detected during the neonatal period. From a total of 15, 370 questionnaires sent from 1991-1997, 10,823 (group 1, n = 8,877; group 2, n = 1,946) were returned (overall response rate, 70.4%). Mean maternal age was 36 years in group 1 and 29 years in group 2. The prevalence of perinatal complications was similar in the two groups. In each group, the prevalence of all unforeseen anomalies was 2.9%. In group 1, the distribution of those anomalies was: major anomalies, 67.7%; minor anomalies, 23.9%; and multiple congenital anomalies (MCA), 8.3%. In group 2, the distribution was: major anomalies, 70.7%; minor anomalies, 24.1%; and MCA, 5.2%. In patients at risk for a genetic disease and consulting in a prenatal diagnosis clinic, the prevalence of all anomalies diagnosed at birth was 2.9%, even if the second-trimester ultrasound and amniocentesis results were normal. Therefore, it is important to inform those couples of this remaining risk.     

Mode of delivery and survival in babies weighing less than 2000 g at birth.

A retrospective study of babies weighing less than 2000 g at birth admitted over a four-year period to Nottingham City Hospital Neonatal Unit showed a higher incidence of lower Apgar scores and the need for intubation in babies born by caesarean section and breech deliveries. Mortality in those delivered by the breech (35%) was statistically higher than those by caesarean section (10%) or vertex (14%). It is concluded that small babies born by breech delivery have a higher mortality than when delivered vaginally and should have the benefit of caesarean section.     

颈项透明层厚度超声联合无创DNA对孕妇胎儿染色体非整倍体异常诊断效能的影响

摘要 目的：探讨颈项透明层(nuchal translucency,NT)厚度超声联合无创DNA对孕妇胎儿染色体非整倍体异常诊断效能的影响。方法：2018年7月到2020年4月选择在本院进行产前筛查的孕妇120例,所有孕妇都给予NT厚度超声联合无创DNA检查,采用羊水穿刺分析检测结果为阳性的胎儿情况。结果：120例胎儿的NT厚度为0.8~10 mm,平均厚度为1.57±0.41 mm;不同孕妇年龄的NT厚度对比差异无统计学意义(P>0.05)。以羊水穿刺检测结果为金标准,120例胎儿中检出染色体非整倍体异常7例,NT超声检出12例,无创DNA检出13例,联合检出14例。NT超声、无创DNA与联合诊断的染色体非整倍体异常敏感性为57.1%、85.7%和100.0%,特异性为92.9%、93.8%和93.8%。检测结果为阳性的14例胎儿中,还包括3例淋巴水囊瘤,2例单脐动脉伴胎儿宫内发育迟缓,1例胎儿双肾畸形,1例胎儿并腿畸形。结论：颈项透明层厚度超声联合无创DNA在孕妇胎儿染色体非整倍体异常中的诊断具有操作简便、无创伤等特点,诊断敏感性与特异性都比较高,可对临床医生遗传咨询有一定的参考价值。     

Prenatal diagnosis of genetic disease in Canada: report of a collaborative study.

A study of 1223 amniocenteses carried out during 1020 pregnancies in 990 women showed that 2nd-trimester amniocentesis at about 16 weeks'' gestation is a safe, accurate and reliable procedure for the diagnosis of certain classes of genetic disease when it is monitored by ultrasound, performed by a trained obstetrician and carried out in a major health sciences centre. The percentage of fetal losses (4.7%) and neonatal deaths (0.5%) during the study was not greater than in control samples for women 35 years of age and older. The best results were obtained when needles of gauge 20 or 21 were used. The use of needles of gauge 19 or larger and more than two insertions during a single amniocentesis were associated with a significantly greater frequency of fetal loss than a second or even a third amniocentesis during the same pregnancy. For 39 fetuses (3.8%) a diagnosis of a genetic abnormality was made and 23 male fetuses were found to be potentially hemizygous for an X-linked gene. There were 51 therapeutic abortions as a result of the diagnosis. Sixty-six tests (5.4%) gave an inconclusive result and seven (0.6%) gave an erroneous diagnosis; five of the latter (two false-positives and three false-negatives) resulted from the alpha1-fetoprotein test for neural-tube defects and in two cases the sex was incorrectly determined. The frequency of all chromosome abnormalities was 1:20 when the mother''s age was 40 years or more and 1:60 when the mother''s age was between 35 and 39 years. When a mother had previously had a child with a chromosome abnormality the risk of recurrence of such an abnormality was 1:100 when the age of the mother was 35 years or more.