Absence Of Congenital Malformations Research Articles

S3312 Acute Decompensation of Late-Onset Glutaric Acidemia Type II in the Setting of Multifactorial Cirrhosis

Introduction: Glutaric acidemia type 2 (GA2), or multiple acyl CoA dehydrogenase deficiency (MADD), is a disorder of fatty acid oxidation, amino acid and choline metabolism. GA2 is inherited in an autosomal recessive manner by changes in the ETFA, ETFB, or ETFDH genes. The classic and most severe form of GA2 is neonatal onset. Our patient has symptoms of late onset disease, including fatigue, vomiting, episodic hyperammonemia, fatty infiltration of the liver, and an absence of congenital malformations. In acute decompensations, triggered by catabolism and/or intercurrent illness, individuals with GA2 may develop metabolic acidosis, rhabdomyolysis, elevation of transaminases, and hyperammonemia. Case Description/Methods: This case describes a 36-year-old gentleman with late onset glutaric acidemia type II, multifactorial cirrhosis from non-alcoholic steatohepatitis in the setting of a metabolic disorder, class III obesity, alcoholic associated liver disease, portal hypertension, splenic embolization, CHF, presented to the ED for confusion following progressive nausea and vomiting over five days, and was found to have elevated ammonia level at 165 mcmol/L. His vital signs were tachycardia of 133 bpm, hypertension of 221/133, he was afebrile in no respiratory distress. Physical exam was notable for a drowsy obese male oriented to self and place, diaphoretic, tachycardic, no JVD, no crackles, non-tender abdomen with normoactive bowel sounds, and asterixis. Initial lab studies were significant for platelets of 131k, potassium of 2.4 mmol/L, total bilirubin 3.7 mg/dL, AST 355 ALT 130 ALP 143 IU/L, and no detectable ethanol, acetaminophen or salicylates. Multiple factors can influence his ammonia level, including underlying cirrhosis and glutaric acidemia. His metabolic crisis was suspected due to a catabolic state from intake of high-protein diet, and was managed with 10% Dextrose IV fluids, levocarnitine, riboflavin, lactulose, low-protein low-fat diet with improvement in encephalopathy. Hypokalemia from decreased absorption and lactulose use resolved with potassium supplements and addition of spironolactone. Discussion: Metabolic disorders are rare but important to consider in patients that present with metabolic crisis. They can decompensate after periods of dehydration, exercise, alcohol ingestion or illnesses and develop hyperammonemia, transaminitis, metabolic acidosis. These individuals have a lifelong risk of intermittent episodes of metabolic crisis and prompt management is imperative to recovery.

Frequency and Types of Uterine Anomalies during Caesarean Section Done for Abnormal Presentation

Background: Congenital uterine abnormalities are caused by abnormal fusion or canalisation of the mullerian duct during embryonic development. Congenital uterine abnormalities affect about 2% to 4% of women in reproductive years, and 5 to 25% of women who have had a difficult pregnancy. Ultrasonography, magnetic resonance imaging, hysterosalpingogram, and hysterolaparoscopy are some of the diagnostic modalities used to diagnose uterine anomalies. This observational study is conducted to determine the frequency and types of congenital uterine anomalies discovered during Caesarean section done for abnormal presentations. Aims and Objectives: 1) To determine the frequency and types of congenital uterine anomalies during caesarean section done for abnormal presentations. 2) To find out relationship between abnormal presentation and uterine anomaly. Material and Methods: This is a retrospective observational study conducted in the Department of Obstetrics and Gynaecology, FAAMCH Barpeta. A total number of 176 cases were included in the study over a period of 1 year. Patients who underwent Caesarean section due to abnormal presentation were included in the study. After delivery of the foetus and the placenta, uterus was examined for the presence or absence of congenital malformations by digital palpation of the uterine cavity and inspection of fundus of uterus after exteriorisation. Demographic characteristics and obstetric outcomes were noted. Results: Out of 176 patients, 24 (13.63%) were diagnosed with uterine anomalies and 152 (86.36%) patients had normal uterus. Majority of the patients with uterine anomalies who underwent Caesarean section were primigravida (79.16%) and majority of them belonged to the age group of 25 - 30 years (70.83%). The most commonly observed uterine anomaly during the study period was arcuate uterus. Our study included cases only with abnormal presentation, 17 out of 24 (70.83%) had breech presentation and 6 (25%) had transverse lie.

Early skin contact combined with mother\u2019s breastfeeding to shorten the process of premature infants \u2264 30 weeks of gestation to achieve full oral feeding: the study protocol of a randomized controlled trial

BackgroundMost hospitalized preterm infants experience difficulties in transitioning from tube feeding to full oral feeding. Interventions to promote full oral feeding in preterm infants in the neonatal intensive care unit (NICU) are limited to pacifier use or bottle-feeding exercises. Skin contact has been shown to be beneficial to start and maintain lactation and provide preterm infants with the opportunity to suck on the mother’s breast, which may promote further development of the preterm infant’s suckling patterns. The objective of this study is to compare and evaluate the effects of skin contact combined with breastfeeding (suck on the mother’s empty breast) as compared to the routine pacifier suckling training model in achieving full oral feeding for infants whose gestational age are ≤ 30 weeks.MethodsThis is a single-center, randomized controlled clinical trial conducted in the NICU and designed according to the SPIRIT Statement. The subjects included in the study are premature infants born between April 2020 and July 2021 with a gestational age of ≤30 weeks, birth weight of <1500 g, admission age of <72 h, and absence of congenital malformations. Those with oxygenation indices of >40 and those born to mothers with poor verbal communication skills will be excluded. A sample of 148 infants is needed. The infants will be randomized to the intervention (skin contact combined with mother’s breastfeeding model) or control group (routine pacifier sucking training model). The primary outcome is the time required to achieve full oral feeding. The secondary outcomes are the breastfeeding abilities of preterm infants as assessed by the Preterm Infant Breastfeeding Behavior Scale (PIBBS), breastfeeding rates at 3 and 6 months corrected gestational age, complication rates, duration of oxygen requirement, days of hospital stay, and satisfaction of parents.DiscussionThis paper describes the first single-center, open-label, randomized clinical trial on this topic and will provide crucial information to support the implementation of skin contact combined with the breastfeeding model in the NICU setting.Trial registrationClinicalTrials.gov NCT 04283682. Registered on 8 February 2020.

Frequency and types of uterine anomalies during caesarean section

In this study all women undergoing caesarean section were included regardless of the indication. After the foetus and placenta were delivered, the uterus was examined for the presence or absence of congenital malformation through digital palpation of uterine cavity and direct inspection of the fundus. Of the 653 caesarean sections included, uterine anomalies were diagnosed in 31 women (4.75%). Most of the anomalies were septate and sub-septate uterus (71%) followed by bicornuate uterus (19.4%), while the frequency of unicornuate uterus was 6.4% and uterine didelphys represented only 3.2%. In conclusion, an examination of the uterus internally and externally should be performed as a routine step during caesarean section.Impact statementWhat is already known on this subject? Most of the data of uterine anomalies has been derived from studies of patients with reproductive problems and not from those with a normal reproductive outcome.What do the results of this study add? Approximately 5% of women were found to have uterine anomalies when examined during caesarean section. If any were detected, we feel that the patient should be informed, as they may affect future reproductive performance and the choice of contraception.What are the implications of these findings for clinical practice and/or further research? An examination of the uterus internally and externally should be considered as a routine step during a caesarean section.

Acromégalie et grossesse : six nouvelles observations

Pregnancies in acromegalic women are rare. Data from the literature indicate absence of congenital malformation in newborns, an increase of pituitary adenoma volume rarely clinically symptomatic, an increased risk of gestational diabetes and gravid hypertension in women with non-controlled GH/IGF-1hypersecretion before gestation. The changes of somatotroph function are rarely described. Report of six new pregnancies in five women with acromegaly. Before pregnancy three women had incomplete surgical resection of GH-secreting pituitary adenoma, all were treated with somatostatin analogues, and the medical treatment was withdrawal at the diagnosis of gestation. We studied clinical (blood pressure, headaches, visual field), biological (blood glucose concentration) signs, GH and IGF-1levels were measured during each trimester of pregnancy as well as in post-partum and were compared with pregestational values, MRI of the pituitary performed during the second trimester and in the post-partum were compared with MRI examen before pregnancy. All those pregnancies were normal without gestational diabetes, gravid hypertension and pituitary tumor syndrome. Clinical signs of acromegaly improved in 50% of the patients, and IGF-1decreased (22%) in comparison of pregestational value without significant change in GH levels. No newborn had congenital malformation. Pregnancies in those women with acromegaly are uneventful without obstetrical or foetal complication, but a maternal follow-up is necessary in order to diagnose gravid hypertension and gestational diabetes. On the other hand, a clinical monitoring of pituitary tumor syndrome is necessary in women with non-operated GH-secreting macroadenoma before pregnancy. During the first trimester of gestation, an improvement of acromegalic signs can be due to a decrease of IGF-1levels related to hepatic GH-resistance state secondary to physiological secretion of estrogens during gestation.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat–Wilson syndrome

Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR). MWS is caused by de novo heterozygous mutations in the ZEB2 gene. The majority of mutations lead to haplo-insufficiency through premature stop codons or large gene deletions. Only three missense mutations have been reported so far; none of which resides in a known functional domain of ZEB2. In this study, we report and analyze the functional consequences of three novel missense mutations, p.Tyr1055Cys, p.Ser1071Pro and p.His1045Arg, identified in the highly conserved C-zinc-finger (C-ZF) domain of ZEB2. Patients' phenotype included the facial gestalt of MWS and moderate ID, but no microcephaly, heart defects or HSCR. In vitro studies showed that all the three mutations prevented binding and repression of the E-cadherin promoter, a characterized ZEB2 target gene. Taking advantage of the zebrafish morphant technology, we performed rescue experiments using wild-type (WT) and mutant human ZEB2 mRNAs. Variable, mutation-dependent, embryo rescue, correlating with the severity of patients' phenotype, was observed. Our data provide evidence that these missense mutations cause a partial loss of function of ZEB2, suggesting that its role is not restricted to repression of E-cadherin. Functional domains other than C-ZF may play a role in early embryonic development. Finally, these findings broaden the clinical spectrum of ZEB2 mutations, indicating that MWS ought to be considered in patients with lesser degrees of ID and a suggestive facial gestalt, even in the absence of congenital malformation.

Maternal Nutritional Deficiencies and Interventions

Maternal Nutritional Deficiencies and Interventions

Evidence for involvement of GNB1L in autism

Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of dup22q11.2 is frequently without physical features but includes the spectrum of neurocognitive abnormalities. Although there is substantial evidence that haploinsufficiency for TBX1 plays a role in the physical features of del22q11.2, it is not known which gene(s) in the critical 1.5 Mb region are responsible for the observed spectrum of behavioral phenotypes. We identified an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Using somatic cell hybrids and comparative genomic hybridization (CGH) we mapped the chromosome-22 breakpoint within intron 7 of the GNB1L gene. Copy number evaluations and direct DNA sequencing of GNB1L in 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1L missense variants in conserved residues in three families (P = 0.036). The identified missense variants affect residues in the WD40 repeat domains and are predicted to have deleterious effects on the protein. Prior studies provided evidence that GNB1L may have a role in schizophrenia. Our findings support involvement of GNB1L in ASDs as well. © 2011 Wiley Periodicals, Inc.

Pregnancy outcome after cyclosporine therapy during pregnancy: a meta-analysis.

Cyclosporine (CsA) therapy must often be continued during pregnancy to maintain maternal health in such conditions as organ transplantation and autoimmune disease. This meta-analysis was performed to determine whether CsA exposure during pregnancy is associated with an increased risk of congenital malformations, preterm delivery, or low birthweight. Various health science databases were searched to identify relevant articles. Articles selected for inclusion in the study were required to be free of any apparent selection bias and report outcomes in at least 10 newborns exposed to CsA in utero, specifically commenting on the presence or absence of congenital malformations. Article selection and data extraction were performed by two independent reviewers, with adjudication in cases of disagreement. To assess risks of CsA exposure, a summary odds ratio was calculated. Prevalence of malformations was calculated as a rate for all cyclosporine-exposed live births and for the subgroups identified. Ninety-five percent confidence intervals were constructed for both the odds ratio and prevalence rates. Fifteen studies (6 with control groups of transplant without use of cyclosporine; total patients: 410) met the inclusion criteria for major malformations, 10 for preterm delivery (4 with control groups; total patients: 379) and 5 for low birth weight (1 with control groups; total number of patients: 314). The calculated odds ratio of 3.83 for malformations did not achieve statistical significance (CI 0.75-19.6). The overall prevalence of major malformations in the study population (4.1%) also did not vary substantially from that reported in the general population. OR for prematurity [1.52 (CI 1.00-2.32)] did not reach statistical significance although the overall prevalence rate was 56.3%. The OR for low birth weight [1.5 (CI 0.95-2.44 based on 1 study)]. CsA does not appear to be a major human teratogen. It may be associated with increased rates of prematurity. More research is needed to evaluate whether cyclosporine increases teratogenic risk.

Hydramnios and small for gestational age: prevalence and clinical significance

To investigate the clinical significance of combined obstetrical pathology of small for gestational age and hydramnios as a predictor of peripartum complications, intrapartum morbidity and poor neonatal outcome. The study population consisted of 152 small for gestational age neonates with hydramnios out of 67,806 singleton deliveries during the study period (0.22%). We compared the 152 small for gestational age neonates with hydramnios (hydramnios/small for gestational age) to a sample of 1% of the appropriate for gestational age neonates with normal amniotic fluid (normal amniotic fluid/appropriate for gestational age) (582 cases). Analyses were conducted for the entire cohort as well as for the cohort in which all cases with congenital malformations were excluded. There was a significantly higher rate of congenital anomalies in the hydramnios/small for gestational age group compared with the normal amniotic fluid/appropriate for gestational age group (25% vs. 2.4%, p<0.001). There were significantly more previous perinatal deaths, infertility treatments and diabetes type B-R among the hydramnios/small for gestational age group. These findings remained significant after exclusion of the neonates with congenital malformations. The rates of labor dystocia, placental abruptio, abnormal presentations, prolapse of cord and cesarean sections were significantly higher in the hydramnios/ small for gestational age group compared with normal amniotic fluid/appropriate for gestational age group (5.9/2.4%, p<0.05; 5.9/0.7%, p<0.001; 14.5/3.2%, p<0.001; 2/0.2%, p<0.01; 24.3/8.2%,p<0.001; respectively). Rates of ante partum death and post partum death as well as low 1 and 5 minute Apgar scores were significantly higher in the hydramnios/small for gestational age group (9.9/0.3%; 14.5/0.3%; 12.8/2.1%; 11.7/0.6%, p<0.001, respectively). The combination of small for gestational age and hydramnios is a risk factor for peripartum complications and perinatal mortality even in the absence of congenital malformations.

How small is too small in a twin pregnancy?

OBJECTIVE: The objective was to determine whether small twins had a survival advantage with respect to small singletons after controlling for other factors associated with adverse perinatal outcome. STUDY DESIGN: A hospital-based cohort study included all births between 1980 and 1995 of babies born between 24 and 43 weeks’ gestation. Logistic regression was used to estimate the perinatal mortality risks for monochorionic and dichorionic twins with growth restriction after adjusting for gestational age, maternal age, parity, method of delivery, and the presence or absence of congenital malformations. RESULTS: The study sample included 1062 dichorionic twins, 354 monochorionic twins, and 59,873 singletons. Small monochorionic and dichorionic twins showed a similar overall risk of perinatal mortality (odds ratio 1.40, confidence interval 0.86 to 2.25). However, monochorionic twins with birth weights <10th percentile faced an increased risk of perinatal death compared with singletons (odds ratio 2.45, confidence interval 1.20 to 5.02). Dichorionic twins had no such increased risk (odds ratio 0.91, confidence interval 0.45 to 1.84). CONCLUSIONS: Twins with growth restriction are not protected against perinatal loss, even after adjusting for congenital malformations. In fact, monochorionic twins are more than twice as likely to die in the perinatal period as are their singleton counterparts. (Am J Obstet Gynecol 1998;179:682-5.)

Polyhydramnios is an independent risk factor for perinatal mortality and intrapartum morbidity in preterm delivery

To investigate the clinical significance of polyhydramnios as a predictor of perinatal death and intrapartum morbidity in patients with preterm delivery. Study design: The study population consisted of 4211 patients with singleton gestation, intact membranes and preterm delivery (<37 weeks). Two groups were identified and compared according to the sonographic assessment of the amniotic fluid volume: increased and normal amniotic fluid. Analyses were conducted for the entire cohort as well as for the cohort excluding from each group all cases with congenital malformations. Logistic regression was used to assess the unique contribution of polyhydramnios to mortality and morbidity in the presence of other known risk factors. Results: The prevalence of polyhydramnios among women who delivered preterm was 5% (210/4211) including and 3.7% (142/3818) excluding the cases of congenital malformations, respectively. Polyhydramnios was associated with a higher rate of diabetes, large for gestational age neonates, fetal malpresentation at delivery, previous perinatal death and with a lower Apgar score at 1 and 5 min. Polyhydramnios was an independent predictor of perinatal mortality and intrapartum morbidity. When adjusted for well recognized risk factors for perinatal mortality and intrapartum morbidity (e.g. diabetes, severe pregnancy induced hypertension, multiparity, congenital malformation, previous perinatal death, low gestational age at delivery), the presence of polyhydramnios significantly increased the rate of perinatal mortality (odds ratio (OR) 5.8; 95% confidence interval (CI) 3.68–9.11) and of intrapartum morbidity (OR 2.8; 95% CI 1.94–4.03). Conclusion: In the setting of preterm delivery, polyhydramnios is an independent risk factor for perinatal mortality and intrapartum complications even in the absence of congenital malformation and other conditions traditionally associated with increased perinatal mortality and morbidity.

High‐dose versus low‐dose bovine surfactant treatment in very premature infants

The aim of the study was to determine if high-dose bovine surfactant (Alveofact, initially 100 mg/kg birth weight) would improve oxygenation compared with low-dose surfactant (50 mg/kg birth weight) administered intratracheally within 1 h after birth. Inclusion criteria included gestational age 24-29 weeks and birth weight 500-1500 g, intubation and mechanical ventilation, absence of congenital malformations and bacterial infections. Retreatment was considered if the fraction of inspired oxygen (FiO2) was > 0.4 (dose 50 mg/kg birth weight). The primary endpoint was level of oxygenation (PaO2/FiO2) 2 h after treatment. The study design was a sequential analysis using a triangular test with alpha = 0.05 and 95% power to detect a 25% improvement in the endpoint. Oxygenation was improved significantly with high-dose (n = 42) compared to low-dose treatment (n = 48): 30.9 +/- 15.0 kPa (231.5 +/- 112.7 mmHg) versus 24.1 +/- 15.7 kPa (180.6 +/- 118.0 mmHg) (mean +/- SD). The survival rate was 83% in both groups and the incidence of pulmonary interstitial emphysema was 33% versus 14% with the high-dose treatment. We conclude that high-dose surfactant significantly improved oxygenation and reduced lung barotrauma. An initial dose greater than 50 mg/kg birth weight of surfactant is required for optimal acute response.

Timing of ductal closure in very low birth weight premature infants without respiratory distress

This investigation was performed at the Oregon Health Sciences University Hospital for a 13-month period between March 29, 1990, and April 15, 1991. To assess the timing of ductal closure, we prospectively enrolled VLBW infants --<30 weeks of gestational age who had no respiratory distress. Criteria for inclusion in this study were (1) gestational age _<30 weeks (confirmed by a modified Ballard examination), (2) no oxygen requirement beyond the initial stabilization period in the nursery (defined as <6 hours after birth), (3) absence of congenital malformation, including congenital heart disease, and (4) < 16 hours of age. This investigation was approved by our institutional review board. For infants meeting inclusion criteria, signed parental consent for participation was obtained. Twenty-six infants met these criteria. Infants enrolled in this study were treated routinely by the attending neonatal staff. After the infants were enrolled in the study, an initial complete two-dimensional eehocardiographic study was performed to exclude congenital cardiac anomalies. All subsequent studies were limited to high parasternal and suprasternal notch imaging. With the use of high-frequency transducers and color-flow Doppler techniques, the ductus can be visualized and patency confirmed in even the smallest premature infant. 2-4 The echocardiograms were obtained with the use of Sonos model 500 or 1000 Color Flow Ultrasound imaging systems (Hewlett-Packard Co., Medical Products Group, Andover, Mass). The two-dimensional images and color flow Doppler signals were obtained with a 5 MHz short-

177 CONTROLLED, RANDOMIZED MULTICENTER CLINICAL TRIAL OF HIGH-DOSE VERSUS LOW-DOSE BOVINE SURFACTANT VERY PREMATURE INFANTS

Objective: Comparing high-dose (initial dose 100 mg/kg b.w., HD) with low-dose (initial dose 50 mg/kg b.w.) bovine surfactant given during hour 1 after birth. Patients and methods: Inclusion criteria: GA 24 - 29 weeks, b.w. 500-1500 g, need for intubation and ventilation, absence of congenital malformations and bacterial infections. Retreatment (max. cumulative dose 200 mg/kg b.w.) was permitted if the FiO2 was >0.4. Endpoinf. HD surfactant treatment improves oxygenation (paO2/FiO2) 2 h post treatment compared with LD treatment (sequential analysis, type I and II error 5 % each). Secondary end-points: air leaks, BPD (FiO2 >0.3 or mechanical ventilation at 28 days), IVH (grade II - IV), PDA, ROP (> grade III) and NEC. 41 infants (GA 27.3 weeks, b.w. 991 g) were randomized to HD treatment, 46 infants (GA 27.2 weeks, b.w. 959 g) to LD treatment. Results: Oxygenation was improved significantly in HD compared to LD treatment (paO2/FiO2 181 ± 119.7 versus 228.4 ± 112.3). Further outcome: HD versus LD infants: air leaks 15/33 %, BPD 24/39 %, IVH 24/35 %, PDA 32/37 %, ROP 10/13 %, NEC 0/2 %, death 15/13 %. Conclusion: HD versus LD bovine surfactant treatment in very premature infants significantly improved oxygenation. A tendency towards decreased incidence of pulmonary air-leaks was observed.

LSD EXPOSURE IN UTERO

In spite of the many recent reports on the damaging effects of LSD on human chromosome in vitro1,2 and in vivo3-6 and its ability to produce congenital malformations in rodents7, the teratogenic potential of this drug in humans is still uncertain. Two infants with limb malformations who had been exposed to LSD in utero have thus far been reported8,9. On the other hand, Cohen, et al.5, reported nine children and Hulten, et al.6, one child, all of whom had been exposed to LSD in utero and had no obvious birth defects although chromosome damage was apparent. Hecht and his co-workers9 have pointed out the need for additional data on infants who had in utero exposure to LSD, regardless of the presence or absence of congenital malformations, so that the teratogenic properties of the drug could be evaluated.

LSD Exposure in Utero

In spite of the many recent reports on the damaging effects of LSD on human chromosome in vitro1,2 and in vivo3-6 and its ability to produce congenital malformations in rodents7, the teratogenic potential of this drug in humans is still uncertain. Two infants with limb malformations who had been exposed to LSD in utero have thus far been reported8,9. On the other hand, Cohen, et al.5, reported nine children and Hulten, et al.6, one child, all of whom had been exposed to LSD in utero and had no obvious birth defects although chromosome damage was apparent. Hecht and his co-workers9 have pointed out the need for additional data on infants who had in utero exposure to LSD, regardless of the presence or absence of congenital malformations, so that the teratogenic properties of the drug could be evaluated.

MALFORMATIONS AND LEUKEMIA IN CHILDREN WITH DOWN'S SYNDROME

Among 2,421 children with Down's syndrome born alive to residents of Massachusetts from 1950 through 1966, approximately one-third had at least one malformation other than the characteristic diagnostic criteria of the syndrome itself. After congenital heart defect, the most common were duodenal obstruction, clubfoot, cataract, imperforate anus, syndactyly or webbed fingers and/or toes, cleft palate and/or lip, and congenital megacolon. Males predominated among children with cataract, syndactyly, and congenital megacolon. Somewhat more females than males had congenital heart defect, although the excess was not significant. The mean maternal age was strikingly low for mongols with cleft palate and/or lip and for males with congenital megacolon. The mean birth weight was significantly lower for mongols with malformations, due primarily to a low birth weight of the children with duodenal obstruction. Most malformations occurred more often in combination with other malformations than expected by chance. The exceptions were duodenal obstruction, congenital megacolon, and imperforate anus. Among 23 mongols with leukemia, 5 died in the neonatal period—a very high age-specific leukemia mortality rate. The sex distribution of cases shifted over time from predominantly males to predominantly females. Leukemic mongols weighed somewhat more at birth than other mongols, although not significantly so. The risk of leukemia among mongols was not related to the presence or absence of congenital malformations.

Use of Congenital Malformation Data Reported on Live Birth Certificates

FOR A NUMBER of years many areas have been requesting information on live birth certificates concerning the presence or absence of congenital malformations in order to (a) provide a method of case detection so that services can be offered for infants and children with such malformations and their families, and (b) provide a method of surveillance of the incidence of congenital malformations. Approximately 12 years ago, a survey was made to determine the extent to which these two objectives were being met at State and local levels (1). Since that time, the thalidomide tragedy and the recent nationwide rubella epidemic have generated increased interest in use of the live birth certificate as a tool for surveillance and service. Consequently, the survey reported here was undertaken to determine current practices in the United States with reference to the use of information on live birth certificates about congenital malformations.