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PubMed2006

Preconception care and treatment with assisted reproductive technologies.

Couples with fertility problems seeking treatment with assisted reproductive technologies (ART) such as in vitro fertilization should receive preconception counseling on all factors that are provided when counseling patients without fertility problems. Additional counseling should address success rates and possible risks from ART therapies. Success rates from ART are improving, with the highest live birth rates averaging about 40% per cycle among women less than 35 years old. A woman's age lowers the chance of achieving a live birth, as do smoking, obesity, and infertility diagnoses such as hydrosalpinx, uterine leiomyoma, or male factor infertility. Singletons conceived with ART may have lower birth weights. Animal studies suggest that genetic imprinting disorders may be induced by certain embryo culture conditions. The major risk from ovarian stimulation is multiple gestation. About one-third of live-birth deliveries from ART have more than one infant, and twins represent 85% of these multiple-birth children. There are more complications in multiple gestation pregnancies, infants are more likely to be born preterm and with other health problems, and families caring for multiples experience more stress. Transferring fewer embryos per cycle reduces the multiple birth rate from ART, but the patient may have to pay for additional cycles of ART because of a lower likelihood of pregnancy.

Age Factors↗
PubMed1993

A new prognostic classification for esophageal atresia.

BACKGROUND: Waterston's risk categories have been extensively used in the past for the classification and management of neonates with esophageal atresia. Advances in neonatal care have affected the prognostic usefulness of the Waterston classification. The purpose of this study is to formulate a new classification of risk factors that would more accurately predict outcome. METHODS: We retrospectively reviewed 95 consecutive cases of esophageal atresia and/or tracheoesophageal fistula treated at the Montreal Children's Hospital. Fifteen patients were in the Waterston class A, with a 6.7% mortality; 35 patients, in class B with a 5.7% mortality; and 45 patients, in class C with a 26.7% mortality. Logistic regression analysis of the influence of each risk factor (weight, pulmonary status, and severity of associated anomalies) on mortality was performed. RESULTS: Birth weight was not found to independently influence mortality. Only severe pulmonary dysfunction with preoperative ventilator dependence and severe associated anomalies had a prognostic influence. We therefore revised the classification to include only significant factors. The new high-risk class II consists of patients with either life-threatening anomalies or both major anomalies and ventilator dependence; the low-risk class I includes all other patients. These criteria radically changed the stratification of both the number of cases and the mortality among classes: the 82 patients in class I had a 7.3% mortality; the 13 patients in class II had a 69.2% mortality. Logistic regression analysis confirmed the validity of this new classification by showing displacement of individual variables by the revised classification but not by Waterston's. CONCLUSIONS: This new "Montreal classification" can simplify and improve the stratification of patients with esophageal atresia. It also reflects the more favorable outcome of low birth weight neonates.

Abnormalities, Multiple↗
PubMed2005

Blue rubber-bleb nevus syndrome: report of a case associated with osteoid osteomas.

Blue rubber-bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by multiple cavernous hemangiomas of the skin, mucosae and frequently of other sites. A 49-year-old male patient had been affected since birth by multiple angiomas localized in the skin, lips, oral cavity, cranial theca, and central nervous system; intrauterine rupture of angiomas in the right parietal lobe had caused partial hypotrophic paralysis of the left hemisoma. In addition to BRBNS, the patient was affected by three osteoid osteomas: this never-described clinical association is here discussed.

Bone Neoplasms↗
PubMed1991

Birth prevalence of different congenital limb deficiency types in a revised, population based Hungarian material, 1975-1984.

998 cases affected with limb reduction deficiency were evaluated in Hungary, 1975-1984. Through the check-up of other sources of ascertainments, the Hungarian Congenital Abnormality Registry was found to be 98.4% complete. The proportion of misdiagnoses was 12.6%. In the period encompassed by the study, the birth prevalence of revised cases affected with congenital limb reduction deficiency was 0.55 per 1000 total births. Isolated and multiple cases were separated. The birth prevalence of revised isolated cases was 0.35 per 1000. Six types were separated based on their phenotypic manifestations. As the number of affected limbs, ratio of isolated and multiple cases and sex ratio showed obvious differences, etiological factors should be evaluated separately in these different types of congenital limb deficiencies.

Congenital Abnormalities↗
PubMed1987

Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta.

We report two infants with bone deformities and multiple fractures reminiscent of osteogenesis imperfecta, but also having ocular proptosis with orbital craniosynostosis, hydrocephalus, and distinctive facial features. Both infants were normal at birth, but multiple compression fractures of the long bones were noted shortly thereafter, followed by extensive demineralization and culminating in recurrent diaphyseal fractures of the weight-bearing bones before the first birthday. The striking similarity of both the distinctive dysmorphic features and the unique pattern of fractures in two unrelated individuals suggests that this is a previously unrecognized form of osteogenesis imperfecta. Despite the craniosynostosis and hydrocephalus, intellectual performance is unimpaired in both individuals. Bone biopsy in one patient revealed decreased bone volume and increased bone resorption without compensatory new bone formation. Extensive laboratory investigations have not identified a cause, nor have they clarified pathogenesis; further elucidation will require the identification and study of new cases.

Craniosynostoses↗
PubMed2000

The interpretation and use of statistics in assisted reproductive technologies.

This article has discussed some of the uses and limitations of currently available statistics for ART programs. A well-known example from statistics states that flipping a coin will produce "heads" 50% of the time and "tails" 50% of the time, provided that the coin is flipped enough times. Experience also shows that the result of individual flips cannot be predicted. Similarly, in ART, statistics can only give general probabilities and not meaningful predictions of the outcome of any particular cycle. Patients should be aware of the limits of statistical analysis as it applies to their individual treatment.

Adult↗
PubMed2004

Why and how should multiple pregnancies be prevented in assisted reproduction treatment programmes?

Although most professional societies have issued guidelines to diminish the number of embryos to be transferred during assisted reproductive techniques, the incidence of multiple pregnancies remains unacceptably high. The burden of morbidity and mortality seems to increase substantially with each fetus in a multiple gestation. As a result, there has been growing debate on the need to prevent multiple pregnancies. The infertility specialists who can solve the infertility problem are usually shielded from the complications of multiple pregnancies. If they were involved in the delivery and, more particularly in the care of multiple pregnancies (both financially and socially), their attitude would probably change. IVF centres should gradually reduce the mean number of embryos per transfer in terms of the cost:benefit ratio. A further reduction to one single embryo per transfer in good cases would be similarly acceptable. Laboratory expertise is of vital importance, especially in terms of embryo culture, embryo selection, and freezing and thawing techniques in embryo transfer programmes for reducing the number of transferred embryos.

Cost-Benefit Analysis↗
PubMed1994

Moderate low birth weight and infectious disease mortality during infancy and childhood.

The purpose of this study was to determine whether moderately low birth weight, singleton babies without congenital anomalies are at increased risk for postperinatal infectious disease mortality. The study cohort consisted of 54,795 live births assembled at 12 medical school-affiliated hospitals in different regions of the United States between 1959 and 1966 and followed prospectively. After exclusions of multiple gestation births, very low birth weight (less than 1,500 g) births, births with major congenital anomalies, and first-week deaths, 51,931 children remained for analysis. Postperinatal infectious disease mortality was assessed through age 7 years. Causes of death were classified independently by two pediatricians, blinded to birth weight status, according to an algorithm developed for the study. Moderately low birth weight infants and children were at increased risk of infectious disease mortality (relative risk (RR) = 2.49, 95% confidence interval (CI) 1.74-3.55). The risk persisted among those whose deaths met our strictest criteria for infectious etiology and was sustained beyond infancy throughout the age interval under analysis. Among those with moderate low birth weight, there was an increased risk among those with preterm birth (RR = 2.77, 95% CI 1.19-6.46) but not among those who were born small-for-gestational age (RR = 1.19, 95% CI 0.37-3.83). The data suggest that moderate low birth weight renders individuals vulnerable to infectious disease mortality during both infancy and childhood. Among moderately low birth weight infants and children, this vulnerability appeared to be attributable primarily to preterm birth rather than to intrauterine growth retardation.

Cause of Death↗
PubMedDate not supplied

Precursors of preterm birth: comparison of three ethnic groups in the middle East and the United States.

OBJECTIVE: To examine factors related to preterm birth in three ethnic groups and in three different countries. DESIGN: Data were obtained on a convenience sample of 118 Lebanese mothers, 104 Egyptian mothers, 40 Mexican American mothers, and 32 White American mothers from Southern California. About half of each cohort had delivered a preterm newborn and half a full-term newborn. Mothers with premature or full-term newborns completed a questionnaire by interview. Analysis compared ethnic groups and preterm- versus full-term birth groups. Multiple logistic regression determined relatedness to outcome. RESULTS: Descriptive factors differed among groups, but not for preterm versus full-term newborn groups. Significant factors for premature birth were vaginal infections, stress, smoking, drug use, and protein intake. Factors significantly related to preterm birth in the Middle-Eastern and American groups were almost identical: social support, stress, and exercise. Smoking was related only in the American group. CONCLUSIONS: These data suggest risk factors are similar across nations and ethnic groups. Prenatal counseling and programs should address these four issues.

Adult↗
PubMed1992

Relationship of follicle number and other factors to fecundability and multiple pregnancy in clomiphene citrate-induced intrauterine insemination cycles.

OBJECTIVE: To determine characteristics associated with pregnancy and multiple gestation after clomiphene citrate (CC)-intrauterine insemination (IUI). DESIGN: Prospective study of all patients undergoing CC-IUI between January 1, 1983 and December 31, 1989. SETTING: Private fertility clinic. PATIENTS: Eight hundred forty-nine patients undergoing 1,974 cycles of CC-IUI. MAIN OUTCOME MEASURES: Relationship between number and size of preovulatory follicles, age, additional infertility diagnosis, medication, and initial semen quality to fecundity, birth, and multiple gestation. RESULTS: Uncorrected, per cycle fecundity was 7.2%. The number of follicles greater than or equal to 12 mm (r = 0.055, P less than 0.05) was and the number greater than or equal to 15, 18, and 21 mm was not correlated with fecundity. Endometriosis with (P = 0.013) or without (P less than 0.0005) tubal adhesions and tubal adhesions alone (P = 0.005), decreased fecundability by 50%. Initial semen quality did not affect fecundity, unless semen concentration was less than 5 x 10(6)/mL or motility was less than 20%. Multiple pregnancy was not associated with the dose of CC, use of human chorionic gonadotropin, or number of follicles. CONCLUSIONS: Multiple pregnancy was unrelated to follicle numbers or to CC dose. The highest birth rates after CC-IUI occurred when initial sperm concentration was greater than or equal to 5 x 10(6)/mL, motility was greater than or equal to 20%, and no endometriosis or adhesions were present.

Clomiphene↗
PubMed1998

The East Flanders Prospective Twin Survey (Belgium): a population-based register.

The East Flanders Prospective Twin Survey (EFPTS), started in 1964, is unique among the 17 major European twin registers because it is population based, the twins (and higher order births) are ascertained at birth, basic perinatal data are collected, chorion type is established and, when appropriate, genetic markers including DNA fingerprints, are determined. The total number of sets is 5089 twin, 158 triplet and 14 of higher order. Zygosity has been diagnosed on the basis of sex, placental structure and genetic markers in more than 95% of pairs. The EFPTS is the only large register that includes placental data and allows differentiation of three subtypes of monozygotic twins based on the time of the initial zygotic division: the dichorionic-diamnionic pairs (early), the monochorionic-diamnionic pairs (intermediate), and the monochorionic-monoamnionic pairs (late). Methodology and basic results in twins are considered in this article; detailed studies will be reported later. The sex proportion in dizygotic (DZ) twins is the same as in singletons, whereas monozygotic (MZ) twins number more girls than boys. The difference in perinatal mortality between DZ and MZ twins is limited to the monochorionic MZ subgroup. Birth weight is highest in DZ twins and diminishes stepwise in MZ dichorionic and MZ monochorionic twins. Duration of pregnancy follows the same trend but is limited to a few days. Iatrogenic pregnancies are increasing to the point of representing almost 50% of the twin births in 1997.

Amnion↗
PubMed1998

Neonatal morbidity and mortality associated with triplet pregnancy.

OBJECTIVE: To compare neonatal morbidity and mortality in a large cohort of triplet pregnancies with singleton and twin neonates managed at a single tertiary center over a short time. METHODS: Records from all triplet pregnancies managed and delivered from 1992 to 1996 were reviewed for neonatal outcome data. Pregnancies delivered before 20 weeks' gestation and neonates with lethal congenital anomalies were excluded. The comparison group comprised all singleton and twin neonates managed in the same neonatal intensive care unit (NICU) during the same period. RESULTS: During the 5-year period, 55 triplet pregnancies and their resulting 165 neonates were managed and delivered at this center. Their outcomes were compared with those of 959 singleton and 357 twin neonates born at similar gestational ages. The median gestational age at delivery for triplets was 32.1 weeks, and 149 of the 165 infants were admitted. Sixteen triplet neonates were not admitted to our neonatal intensive care unit, 12 because of previable gestational age, three because of stillbirth, and one because of a lethal congenital anomaly. The crude perinatal mortality rate in triplets was 121 per 1000 births, and there was no significant difference in outcome based on triplet birth order. There were no significant differences in survival rates between singleton, twin, and triplet neonates, with an overall neonatal survival of 95%, 95%, and 97%, respectively. The only significant differences in morbidity were an increased incidence of mild intraventricular hemorrhage (relative risk [RR] 6.20; 95% confidence interval [CI] 2.64, 14.61), mild retinopathy of prematurity (RR 20.05; 95% CI 3.59, 111.79), and severe retinopathy of prematurity (RR 46.69; 95% CI 6.25, 348.85) in triplets compared with singletons, and severe retinopathy of prematurity (RR 6.83; 95% CI 1.24, 37.56) in triplets compared with twins. CONCLUSION: When stratified by gestational age, triplet neonates delivered at 24-34 weeks' gestation have similar outcomes as singleton and twin neonates, with the only clinically significant difference being an increased incidence of retinopathy of prematurity in triplets.

Female↗
PubMed2004

Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey.

BACKGROUND: The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. METHODS: The 1994/1995 National Health Interview Survey (NHIS) was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1) single non-familial (one individual with one birth defect); 2) single familial (more than one individual with one birth defect); 3) multiple non-familial (one individual with more than one birth defect), and 4) multiple familial (more than one individual with more than one birth defect). The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. RESULTS: Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. CONCLUSIONS: Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

Age Distribution↗
PubMed1994

A comparison of single versus multiple growth ultrasonographic examinations in predicting birth weight.

OBJECTIVE: Our purpose was to determine whether two or more ultrasonographic fetal growth assessments provide a superior estimate of birth weight than does a single examination. STUDY DESIGN: Five hundred and eighty five ultrasonographic procedures were performed in 263 patients, divided into single (n = 249) and multiple (n = 247) examination groups. Ultrasonographically estimated fetal weight percentiles and abdominal circumference percentiles were compared with gestationally corrected birth weight percentiles. After the gestational age range with the fewest errors in birth weight percentile prediction (32 to 36 weeks) was determined, patients with a single examination in this range were assigned to the single examination group. In the group with multiple examinations averaged ultrasonographic percentiles were used to predict birth weight percentile. Mean absolute and percentage errors were compared for predictive accuracy by means of analysis of variance and Student t test. RESULTS: There was a linear correlation between the estimated fetal weight and abdominal circumference percentiles and the birth weight percentile, (r = 0.72, p < 0.0001). The accuracy of birth weight percentile predictions was similar whether one or multiple examinations were performed in the third trimester. Both the abdominal circumference percentile and estimated fetal weight percentile underpredicted birth weight, although the abdominal circumference percentile errors (1% to 2%) were statistically smaller than those derived from estimated fetal weights percentile (9% to 11%, p < 0.0001). Both abdominal circumference percentile and estimated fetal weights percentile consistently overidentified fetuses < 10th percentile (small for gestational age) and underidentified fetuses > 90th percentile (large for gestational age). However, multiple abdominal circumference percentile measurements resulted in improved predictions for small for gestational age (sensitivity 100%, specificity 88%) and large for gestational age (sensitivity 84%, specificity 100%). CONCLUSIONS: With either the single or multiple examination approach birth weight percentile estimates were within 10% of the actual birth weight percentile approximately 50% of the time. Multiple ultrasonographic examinations provided little improvement in prediction of birth weight compared with a single observation. Multiple measurements of the abdominal circumference percentile may provide improved accuracy in identifying large for gestational age and small for gestational age fetuses.

Birth Weight↗