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PubMed2006

Maternal panic disorder and congenital abnormalities: a population-based case-control study.

BACKGROUND: Maternal panic disorder in pregnancy is the most common manifestation of anxiety disorders in Hungary. The association between panic disorder during pregnancy and structural birth defects, i.e., congenital abnormalities, was studied. METHODS: The prevalence of maternal panic disorder in cases with different congenital abnormalities was compared to that of matched controls in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. RESULTS: Of 22,843 cases with congenital abnormalities, 210 (0.9%) had mothers with panic disorder during pregnancy compared to 187 (0.5%) of 38,151 controls (adjusted prevalence odds ratio [POR] 1.6; 95% CI, 1.3-2.0). Specific groups of congenital abnormalities were also assessed versus controls. Cases with isolated cleft lip with or without cleft palate (CL/P) (adjusted POR, 3.4; 95% CI, 1.3-9.0) and multiple congenital abnormalities (adjusted POR, 3.0; 95% CI, 1.2-7.2) were more likely to have had mothers with panic disorder during the study pregnancy. Notably, among mothers with panic disorders, the associations were found only in offspring of untreated mothers. CONCLUSIONS: A higher rate of isolated CL/P and multiple congenital abnormalities may be caused by the direct biological effect of panic disorder or by the interaction of maternal panic disorder and lifestyle factors. Antipanic drug treatment seems to have a protective effect for isolated CL/P and multiple congenital abnormalities. Birth Defects Research (Part A), 2006.

Abnormalities, Multiple↗
PubMed2001

The genetic sonogram: its use in the detection of chromosomal abnormalities in fetuses of women of advanced maternal age.

Real-time and color Doppler ultrasound were used to examine 103 second trimester fetuses with abnormal chromosomes (trisomies 13, 18, 21 and sex aneuploidy =86; other =17) and 2000 controls from women of advanced maternal age who electively underwent genetic amniocentesis. Ten ultrasound markers were analyzed and likelihood ratios were computed for each abnormal ultrasound finding and for a normal ultrasound study if none of the ten markers were present. Abnormal ultrasound markers were present in 81% of fetuses with abnormal karyotypes. The false-positive rate was 13%. The likelihood ratios and the 5% and 95% confidence limits for each of the ultrasound markers were as follows: choroid plexus cyst(s) 1.5 (0.7-3.6); central nervous system abnormalities 16.2 (4.4-60.3); abnormal nuchal skin fold 20.9 (8.4-52.1); ventricular septal defect 8.3 (4.7-14.9); outflow tract defects of the heart 3.6 (0.9-14.6); right-to-left chamber disproportion of the heart 36.9 (14.4-94.5); pericardial effusion 7.2 (3.2-16.1); tricupsid regurgitation 4.7 (2.1-10.7); hyperechoic bowel 3.7 (1.8-7.7); and pyelectasis 2.7 (1.0-7.7). All ultrasound markers were independent of each other. The likelihood ratio following a normal ultrasound study was 0.20. Isolated ultrasound markers were present in 20.4% (n=21) of fetuses. When all markers were compared to non-cardiovascular markers, the detection rate for fetuses with a chromosomal abnormality decreased from 81% to 52% (p<0.01). Given the above data, the posterior risk following an ultrasound examination using the ultrasound markers evaluated in this study can be used to compute the risk for an abnormal karyotypes in women of advanced maternal age.

Adult↗
PubMed2007

Use of phenytoin, phenobarbital, or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study.

PURPOSE: Case-control studies are often used to examine putative teratogenic drug effects during organogenesis but these studies are subject to confounding by indication, recall, and participation bias. The case-time-control approach is less susceptible to these sources of bias. We studied congenital abnormalities following exposure to phenytoin, phenobarbital, and diazepam in early pregnancy, i.e., second and third month, compared to mid-pregnancy, i.e., fifth and sixth month of pregnancy. METHODS: We analyzed data from the Hungarian Case-Control Surveillance of Congenital Abnormalities (1980-1996) in a case-time-control study. RESULTS: The study included 22 843 children with congenital abnormalities (cases) and 38 151 children with no abnormalities (controls). Overall, odds ratio (OR) for congenital abnormalities after exposure to one of the three drugs in early pregnancy was 1.2 (95% confidence interval (CI): 1.0-1.4). Among children exposed to phenytoin OR for congenital abnormalities was 3.7 (95%CI: 0.3-49.6), for children exposed to phenobarbital the OR was 1.1 (95%CI 0.7-1.7), and for diazepam, OR for congenital abnormalities was 1.2 (95%CI: 1.0-1.4). CONCLUSIONS: The associations we found between the drugs examined and congenital abnormalities were either only borderline significant or not statistically significant. The case-time-control study provides an interesting way of using existing case-control data to study rare side effect of drugs taken during pregnancy.

Abnormalities, Drug-Induced↗
PubMed2005

Three-dimensional sonographic description of abnormal metopic suture in second- and third-trimester fetuses.

OBJECTIVE: To describe patterns of abnormal development of the metopic suture in association with fetal malformations during the second and third trimesters of pregnancy. METHODS: This was a cross-sectional study of the frontal bones and metopic suture in 11 fetuses at 17-32 weeks of gestation. Cases were selected because there were obvious abnormalities in the metopic sutures. In each case, a malformation was detected by two-dimensional (2D) ultrasound and the abnormality of the metopic suture was detected and evaluated on three-dimensional (3D) ultrasound, using transparent maximum mode. RESULTS: There were essentially four patterns of abnormality in the metopic suture: firstly, delayed development with a V- or Y-shaped open suture, which is found in normal fetuses at 12-16 weeks; secondly, a U-shaped open suture, presumably due to upward growth of the frontal bones with delayed closure; thirdly, premature closure of the suture, which is normally observed after 32 weeks; fourthly, the presence of additional bone between the frontal bones. Premature closure of the suture or additional bone between the frontal bones was observed in fetuses with holoprosencephaly and abnormalities of the corpus callosum, whereas the V-, Y- and U-shaped metopic sutures were observed in fetuses with facial defects involving the orbits, nasal bones, lip, palate and mandible, in the absence of holoprosencephaly and abnormal corpus callosum. CONCLUSIONS: This preliminary study describes the pattern of possible abnormalities of the metopic suture and should stimulate further investigation to establish the prevalence and evolution of abnormal sutures as well as the incidence and pattern of other associated defects.

Abnormalities, Multiple↗
PubMed1998

Antenatally detected urinary tract abnormalities: changing incidence and management.

UNLABELLED: To define the incidence of urinary tract abnormalities detected by antenatal ultrasound and assess changes in postnatal management we conducted a retrospective survey using data bases of the nephro-urology unit, obstetric ultrasound and perinatal pathology departments. The birth population (105,542) of the two Nottingham teaching hospitals between January 1984 and December 1993 was divided into two 5-year cohorts, 1984-1988 and 1989-1993. Detailed fetal scanning at 18-20 weeks gestation was introduced in 1989. During this 10-year period, 201 abnormalities of the urinary tract were noted with a 2:1 male to female ratio. The incidence of abnormalities in the first 5 years was 1 in 964 compared to 1 in 364 in the last 5 years. There was a significant increase in the number detected before 20 weeks gestation (12% in 1984-1988 compared to 62% in 1989-1993). Despite the increased incidence of abnormalities detected, the termination rate remained static between the two 5-year cohorts. Only 3 fetuses had intra-uterine intervention and 173 were live-born. Eight infants subsequently died in association with other major congenital abnormalities. The incidence of transient abnormalities (antenatal dilatation with no abnormality noted on postnatal ultrasound) increased from 6% in 1984-1988 to 18% in the 1989-1993 cohort. A more conservative approach to postnatal management is reflected by 71% of infants having operations between 1984 and 1988 compared to 35% in 1989-1993. CONCLUSION: The advent of detailed fetal scanning at 18-20 weeks gestation has significantly increased the detection rate of urinary tract abnormalities with no significant increase in pregnancy termination rates. The need for antenatal intervention is a rare event and most problems can be managed conservatively both pre- and postnatally.

Abortion, Induced↗
PubMed2006

Population-based case-control study of the common cold during pregnancy and congenital abnormalities.

The common cold is the most frequent maternal disease during pregnancy. The possible association between different congenital abnormalities and the common cold in pregnant women was evaluated in the data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities between 1980 and 1996. Of 22,843 cases with congenital abnormalities, 3,827 (16.8%) had mothers with the common cold, while of 38,151 population controls without congenital abnormalities, 5,475 (14.4%) (adjusted prevalence odds ratio: POR: 1.26 with 95% CI: 1.20-1.32). Of 834 malformed controls with Down syndrome, 114 (17.3%) had mothers with the common cold (POR: 0.96 with 95% CI: 0.80-1.16). Nearly half of mothers with the common cold had secondary complications with antifever therapy. The comparison of cases with 25 congenital abnormalities and population control mothers with medically recorded common cold during the second and third months of gestation showed that five congenital abnormality groups: congenital hydrocephaly (3.6, 1.3-9.7), cleft lip+/-palate (2.3, 1.5-3.6), posterior cleft palate (2.3, 1.2-4.1), limb deficiencies (2.2, 1.1-4.1) and multiple CAs (2.0, 1.4-2.9) had adjusted POR 2 or more. The comparison of cases with different congenital abnormalities and malformed controls (including offspring with Down syndrome) as referent, indicated a higher prevalence of the common cold during the second and third month of gestation only in the mothers of cases with cleft lip+/-palate (adjusted POR: 1.7 with 95% CI: 1.2-2.5), however, congenital hydrocephaly, neural-tube defects and multiple CAs had also mothers with a somewhat higher occurrence of the common cold. The possible association between the common cold during early pregnancy and the above mentioned congenital abnormalities may be connected mainly with the indirect effect of secondary complications of maternal common cold, particularly high fever because antifever drugs were able to prevent the possible teratogenic effect of the common cold.

Analgesics, Non-Narcotic↗
PubMed1992

Ultrasonographically detectable markers of fetal chromosomal abnormalities.

Screening for fetal chromosomal abnormalities on the basis of maternal age has not resulted in a substantial fall in the proportion of infants born with an abnormal karyotype. Most fetuses with major chromosomal abnormalities have defects that can be recognised on detailed ultrasonographic examination. Therefore, provided the cardinal signs of each chromosomal syndrome are recognised, it is possible that screening by ultrasound examination could have a greater impact. We karyotyped 2086 fetuses after ultrasonographic examination had revealed fetal malformations, growth retardation, or both. Chromosomal abnormalities were detected in 301 (14%) cases and were more common among fetuses with multisystem malformations (29%) than among those with isolated defects (2%). The commonest chromosomal abnormality was trisomy 18, followed by trisomy 21, triploidy, Turner's syndrome, unbalanced chromosomal rearrangements, and trisomy 13. Trisomy 18 was associated with strawberry-shaped head, choroid plexus cysts, facial cleft, micrognathia, heart defects, exomphalos, malformations of hands and feet, and growth retardation. In trisomy 21, the associated defects were subtle and included nuchal oedema, macroglossia, atrioventricular septal defects, mild hydronephrosis, clinodactyly, and sandal gap. The frequency of autosomal abnormalities increased with maternal age, but if fetal karyotyping had been restricted to mothers older than 35 years, large proportions of chromosomally abnormal fetuses would not have been diagnosed prenatally (64-97%). Our findings provide guidelines as to which defects to search for in screening studies for the detection of chromosomal abnormalities.

Adolescent↗
PubMed1993

Methods and concepts in detecting abnormal reproductive outcomes of paternal origin.

There is conclusive evidence that exposures of human males to ionizing radiation or certain chemicals can diminish sperm production and reduce fertility. Of approximately 100 chemical agents and mixtures that have been evaluated in men by semen analysis, about half (mostly drugs and a few occupational exposures) reduced sperm quantity and quality; several of these agents also affected the fertility of exposed men. It is now well recognized that the importance of the father in reproduction goes beyond fertilization. Abnormalities in paternal chromosomes (structural and numeric) have been found in various abnormal reproductive outcomes, including chromosomal abnormality syndromes among newborns. In rodent systems, exposure of males to mutagens before mating induces transmissible cytogenetic and genetic abnormalities as well as morphologic defects and cancer among offspring. Consistent with animal findings, there is growing epidemiologic evidence of associations between male exposures to exogenous agents and abnormal reproductive outcomes (fetal loss, birth defects, childhood cancer, etc.). However, no clear links have been established between exposure, mechanism of transmission, and abnormal reproductive outcomes. It is not known to what extent male-mediated birth defects and childhood cancer are due to genetic, epigenetic, or nongenetic causes. Viewed in a multigenerational context, the role of the father in abnormal reproductive outcomes is dependent on his exposure history and susceptibilities as well as those of his mate. Relevant exposures may occur any time between conception of the parents and production of their fertilizing gametes, including their development in utero, childhood, and adolescence. Efficient measurements (including biomarkers) of relevant exposure, early biologic effects, and susceptibility in human males are under development. An integrated approach is recommended for assessing male reproductive and genetic toxicity that utilizes biomarkers in (a) epidemiologic studies of exposed human populations, (b) risk characterization in sensitive laboratory species, and (c) in vivo and in vitro studies of the molecular mechanisms of action of toxicants. A special category of "bridging" biomarkers is needed for evaluating animal data for risk assessment and for discriminating among genetic, epigenetic, and nongenetic mechanisms of abnormal reproductive outcomes of paternal origin.

Adult↗
PubMed1994

Ultrasonographic measurement of fetal nuchal skin to screen for chromosomal abnormalities.

OBJECTIVE: The purpose of this prospective investigation was to determine the utility of ultrasonographic measurement of the fetal nuchal skin in screening for chromosomal abnormalities. STUDY DESIGN: In 1510 patients undergoing genetic amniocentesis at 14 to 21 weeks' gestation, the fetal nuchal skin fold was measured. A measurement of > or = 6 mm was considered abnormal. RESULTS: In fetuses with normal karyotype the nuchal skin increased with advancing gestational age (r = 0.45, p < 0.001). Only 27 fetuses with normal karyotype (2.0%) had an abnormal nuchal skin thickness. Fifty-seven fetuses had abnormal karyotype. Eight of 14 fetuses with Down syndrome had abnormal ultrasonographic findings; four had increased nuchal skin as the only ultrasonographic abnormality. Increased nuchal skin alone, in the absence of other ultrasonographic dysmorphologic features, did not help to identify fetuses with other abnormal karyotypes. CONCLUSION: Nuchal skin thickness is a useful noninvasive measurement to screen for Down syndrome but does not help to identify fetuses with other chromosomal abnormalities.

Chromosome Aberrations↗
PubMed1999

Congenital abnormalities and indicators of germinal mutations in the vicinity of an acrylonitrile producing factory.

The results of an environmental mutation and teratologic epidemiological study are presented which was performed in inhabitants living in the surrounding region of an acrylonitrile factory in Nyergesújfalu. The endpoint of the study was congenital abnormalities in 46,326 infants born to mothers living in the 30 settlements of the study region within a 25 km radius of the acrylonitrile factory between 1980 and 1996. The ascertainment of cases with congenital abnormalities was based on the dataset of the Hungarian Congenital Abnormality Registry complemented with the review of pediatric, pathology and cytogenetic records. A particular attention was paid to the indicators of germinal mutations as sentinel anomalies, Down syndrome and unidentified multiple congenital abnormalities and the indicators of teratogens as the specific pattern of multiple congenital abnormalities. Three congenital abnormalities: pectus excavatum in Tata, 1990-1992 (OR with 95%CI: 78.5, 8.4-729.6), undescended testis in Nyergesújfalu between 1980 and 1983 (8.6, 1.4-54.3) and in Esztergom, 1981-1982 (4. 2, 1.3-13.5) and clubfoot in Tata, 1980-1981 (5.5, 1.5-20.3) showed significant time-space clusters in the study region. There was a decrease in risk of undescended testis with increasing distance from the acrylonitrile factory. An unusual increase was found in the combination of oral cleft and cardiac septal defects in multimalformed babies in Tatabánya, 1990. The detailed analysis of congenital abnormalities in all settlements of a given territory may help to detect clusters of congenital abnormalities and their possible relation to the environmental hazards.

Acrylonitrile↗
PubMed1997

Congenital airway abnormalities requiring tracheotomy: a profile of 56 patients and their diagnoses over a 9 year period.

We reviewed the 9 year experience at the Children's Hospital of Philadelphia with patients requiring tracheotomy for a diagnosis of congenital airway abnormalities. Of the 56 patients, 28 (50%) had cardiovascular, or chromosomal abnormalities, neurologic conditions, or congenital syndromes, 24 (43%) were born prematurely, and 13 (23%) were found to have gastroesophageal reflux. Only 18 (32%) went on to eventual decannulation of their tracheotomy with a mean tracheotomy duration of 1.75 years. The majority of patients (75%) had multiple presenting signs. Stridor was the most common (54%), followed by accessory respiratory effort (39%), cyanosis (30%), apnea (29%), and failure to thrive (23%). Twenty eight patients (50%) had multiple airway abnormalities contributing to their need of a tracheotomy for airway protection orr ventilator dependence. Laryngeal abnormalities were found in 71% of patients, tracheal abnormalities in 48% of patients, bronchial abnormalities in 11%, and upper airway obstruction in 14%. Of the laryngeal abnormalities, laryngomalacia was the most common, followed by subglottic stenosis, glottic web, and vocal cord paralysis. Tracheomalacia was the most common tracheal abnormality. The relatively large percentage of patients with cardiovascular or other major malformations, and prematurity, accounts for comorbid factors in the need for prolonged tracheotomy (and low early decannulation rate). Although gastroesophageal reflux was found in a recognizable portion off the patients, it is unclear whether this represents a comorbid condition.

Abnormalities, Multiple↗
PubMed2002

First-trimester pregnancy scanning as a screening tool for high-risk and abnormal pregnancies in a district general hospital setting.

This study set out to evaluate the feasibility and acceptability of routine early ultrasound (12-14 weeks) within a district general hospital (DGH) for identifying high-risk and abnormal pregnancies. This was a pilot study for screening by ultrasound examination all women who presented to their community midwife before 12 weeks' gestation. The study involved 991 women who presented clinically pregnant before 12 weeks' gestation between May 1998 and May 1999. Women were offered routinely two ultrasound examinations during their pregnancy, the first at 12-14 weeks' gestation and the second at 20-21 weeks' gestation. The main outcome measures were: range and number of abnormal/high-risk pregnancies identified during an ultrasound scan at 12-14 weeks' gestation; range and number of abnormalities diagnosed during scans at later gestations; outcomes of the pregnancies; questionnaires assessing how the women viewed early pregnancy ultrasound as a method of screening. Nine hundred and eighty-four (99%) women accepted the offer of an early ultrasound scan at 12-14 weeks' gestation; of these 840(85%) women accepted screening for trisomy 21 (T21) by fetal nuchal translucency thickness (NT) and maternal age (fetal medicine foundation risk assessment programme) and this was completed successfully in 797(80%) of cases. Twenty-four women (2%) had a failed pregnancy and where necessary an ERPC was performed following a planned admission. Thirty pregnancies (3%) were diagnosed as abnormal or having high risk of abnormality at the early scan. A major abnormality was confirmed before the expected anomaly scan at 20 weeks in five (17%) pregnancies; all of these patients opted for an elective termination. Twenty-six (3%) pregnancies had a diagnosis of abnormality at their anomaly scan. Of these, three pregnancies were diagnosed as major abnormalities with two resulting in termination of the affected pregnancy before 24 weeks' gestation. Eight hundred and thirty-seven women (85%) completed questionnaires, 833 women (84.5%) were satisfied with the counselling they received before the ultrasound scan and 827 women (84%) answered that they would accept an early pregnancy scan if offered during their next pregnancy. Early pregnancy ultrasound at 12-14 weeks' gestation can be used as an effective method of identifying and screening for major abnormalities of pregnancy within a DGH setting, but it is appropriate to use this in conjunction with an anomaly scan at around 20 weeks' gestation. Women found this method of screening acceptable.

Congenital Abnormalities↗
PubMed2003

Idiopathic scoliosis as a presenting sign of familial neurologic abnormalities.

STUDY DESIGN: Familial cases of "idiopathic" scoliosis associated with neurologic abnormalities are reported with a review of the literature. OBJECTIVE: To investigate the prevalence of neurologic abnormalities such as syringomyelia, Chiari 1 malformation, and tonsillar ectopia in patients with genetically determined "idiopathic" scoliosis. SUMMARY OF BACKGROUND DATA: Idiopathic scoliosis is widely considered to be a genetic disorder of unknown etiology. Magnetic resonance imaging (MRI) studies have shown that several cases of "idiopathic" scoliosis show neurologic abnormalities including syringomyelia and Chiari 1 malformation. Recently, several familial cases of either syringomyelia or Chiari malformation were reported, and it is suspected that genetic factors may influence the development of the craniovertebral malformation. It was hypothesized that some cases of "idiopathic" scoliosis include a craniovertebral malformation that is genetically determined. METHODS: This study, using clinical examinations and MRI, investigated 71 patients with scoliosis and a family history of "idiopathic" scoliosis in third-degree relatives for the presence of neurologic abnormalities. If neurologic abnormalities were confirmed with MRI, the relatives affected with scoliosis were also examined. RESULTS: Nine (13%) patients showed neurologic abnormalities on MRI. Magnetic resonance imaging showed syringomyelia with Chiari 1 malformation in four patients, Chiari 1 malformation in three patients, and tonsillar ectopia in two patients. Among the relatives of these patients, 4 of 15 individuals affected with scoliosis also showed neurologic abnormalities on MRI. CONCLUSIONS: It is suggested that familial neurologic abnormalities may have a wide range of expression, and that some patients with "idiopathic" scoliosis present with genetically determined craniovertebral malformations such as syringomyelia, Chiari 1 malformation, and tonsillar ectopia.

Abnormalities, Multiple↗
PubMed1985

Heinz body formation in red cell membrane disorders: its acceleration in membrane lipid abnormalities.

Abnormal Heinz body formation in the presence of acetylphenyl hydrazine was observed in some patients with red cell membrane abnormalities, such as hereditary red cell membrane high phosphatidyl choline haemolytic anaemia, congenital haemolytic anaemias of unknown origin, acquired hyperlipidaemia and paroxysmal nocturnal haemoglobinuria. No abnormality of haemoglobin composition or of oxidation-reduction activities was noted in 66 patients studied. No abnormal Heinz body formation was seen in hereditary spherocytosis, hereditary elliptocytosis or hereditary stomatocytosis with normal membrane lipids, but increased Heinz body formation was observed in some patients with red cell membrane lipid abnormalities. The extent of abnormal Heinz body formation inversely correlated with a decreased molar ratio of free cholesterol to phosphatidyl choline in these red cells. Heinz body formation, therefore, may be abnormal in some red cell membrane disorders, especially when membrane lipid abnormalities exist.

Anemia, Hemolytic↗
PubMed1998

Routine ultrasound scanning for congenital abnormalities.

Screening has been defined as "the systematic application or a test or enquiry, to identify individuals at sufficient risk of a specific disorder to benefit from further investigation or direct preventive action, among persons who have not sought medical attention on account of symptoms of that disorder" (Wald, N.J. 1994. J. Med. Screen. 1:76). The purpose of screening is to benefit the individuals being screened. The early detection of abnormalities should not be an end in itself, and the value of a screening approach needs to be determined before it is introduced into practice. Ultrasound as a means of screening for fetal abnormalities has not been adequately assessed even though it is widely used in this way. To assess its value it is helpful to classify abnormalities that can be detected on the basis of the clinical usefulness of doing so. To this end we propose four categories similar to those independently suggested by the Royal College of Obstetricians and Gynaecologists Working Party on Ultrasound Screening for Fetal Abnormalities. Four groups were specified: (A) major abnormalities--death inevitable, (B) abnormalities associated with long-term handicap, (C) abnormalities potentially amenable to intrauterine treatment, and (D) fetal conditions that require immediate postnatal investigation and/or treatment. For each abnormality, the screening detection and false-positives need to be estimated together with the medical and financial costs of screening, particularly those arising from findings of uncertain or little medical consequence that may lead to worry and further unnecessary obstetric intervention.

Congenital Abnormalities↗
PubMed1990

Examination of fetuses after induced abortion for fetal abnormality.

OBJECTIVE: To determine the accuracy of midtrimester diagnosis of fetal abnormality by examination and investigation of fetuses after induced abortion. DESIGN: Prospective study over five years of fetuses aborted in the midtrimester because of abnormalities detected by ultrasonography and amniocentesis. Techniques included a full external examination by a clinical geneticist with experience in dysmorphology and other investigations including necropsy. SETTING: Regional genetic centre. PARTICIPANTS: Clinicians working within the North Western region who wished to use the service offered. RESULTS: 133 Fetuses were aborted because of abnormalities detected on ultrasonography and 115 because of abnormal findings on amniotic fluid analysis. In a further two cases fetal abnormality was diagnosed by molecular genetic and biochemical techniques. Among the fetuses with abnormal scans the pretermination diagnosis was changed or refined in a way which affected genetic counselling in 53 of 133 cases. Among the 115 fetuses diagnosed as abnormal by amniocentesis the pretermination diagnosis was confirmed in 112 cases and altered in three. CONCLUSION: Fetuses aborted because of abnormalities detected by screening should be examined by suitably experienced clinicians, both for accurate genetic counselling of the families and for quality control of the tests employed.

Abortion, Induced↗
PubMed1993

Prevention of congenital abnormalities by periconceptional multivitamin supplementation.

OBJECTIVE: To study the effect of periconceptional multivitamin supplementation on neural tube defects and other congenital abnormality entities. DESIGN: Randomised controlled trial of supplementation with multivitamins and trace elements. SETTING: Hungarian family planning programme. SUBJECTS: 4156 pregnancies with known outcome and 3713 infants evaluated in the eighth month of life. INTERVENTIONS: A single tablet of a multivitamin including 0.8 mg of folic acid or trace elements supplement daily for at least one month before conception and at least two months after conception. MAIN OUTCOME MEASURES: Number of major and mild congenital abnormalities. RESULTS: The rate of all major congenital abnormalities was significantly lower in the group given vitamins than in the group given trace elements and this difference cannot be explained totally by the significant reduction of neural tube defects. The rate of major congenital abnormalities other than neural tube defects and genetic syndromes was 9.0/1000 in pregnancies with known outcome in the vitamin group and 16.6/1000 in the trace element group; relative risk 1.85 (95% confidence interval 1.02 to 3.38); difference, 7.6/1000. The rate of all major congenital abnormalities other than neural tube defects and genetic syndromes diagnosed up to the eighth month of life was 14.7/1000 informative pregnancies in the vitamin group and 28.3/1000 in the trace element group; relative risk 1.95 (1.23 to 3.09); difference, 13.6/1000. The rate of some congenital abnormalities was lower in the vitamin group than in the trace element group but the differences for each group of abnormalities were not significant. CONCLUSIONS: Periconceptional multivitamin supplementation can reduce not only the rate of neural tube defects but also the rate of other major non-genetic syndromatic congenital abnormalities. Further studies are needed to differentiate the chance effect and vitamin dependent effect.

Congenital Abnormalities↗
PubMed1996

Second trimester routine ultrasound and abnormal findings.

OBJECTIVE: To estimate the detection rate of abnormal findings, especially fetal anomalies, at second trimester ultrasound screening performed in a way representative of Swedish antenatal clinics. DESIGN: A prospective study carried out over two years in Uppsala county, Sweden, including 8,228 unselected pregnant women (8,345 fetuses). The ultrasound scans were performed by specially trained midwives. MAIN OUTCOME MEASURES: The number of abnormalities suspected by the midwives and the number of abnormalities confirmed by the obstetricians were registered, as was pregnancy outcome for these cases. RESULTS: Midwives reported suspected abnormalities at the screening procedure in 59 cases (0.7%), abnormalities were confirmed by obstetricians in 42 cases (0.5%, of which 0.36% were fetal malformations). Seventeen of these 42 pregnancies were terminated and 11 ended with miscarriages or intrauterine fetal deaths. Fourteen of the 42 pregnancies ended with a live born infant, of which two died postnatally. CONCLUSIONS: The described ultrasound screening procedure led to suspected abnormalities in 0.7% of the scanned cases and to confirmed abnormalities in 0.5% of the cases. The outcome for the confirmed abnormalities was poor, as 71% were either terminated or ended with miscarriage or perinatal death.

Abortion, Induced↗