Are isolated facial cleft lip and palate associated with increased perinatal mortality? A cohort study from the West Midlands Region, 1995-1997.

OBJECTIVE: To investigate the association between cleft lip and/or palate and perinatal mortality. METHODS: A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997. RESULTS: 347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes--2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5-7.0). CONCLUSION: Consideration should be given to screening the fetus at 20-24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.     

Study of 156 cases of polyhydramnios and congenital malformations in a series of 118,265 consecutive births

Polyhydramnios associated with congenital anomalies was studied over nine years in 118,265 consecutive pregnancies. The prevalence of this association was 1.32% (156 cases). A case-control study allowed the examination of genetic and environmental factors for the origin of polyhydramnios associated with congenital malformations. Diagnosis of polyhydramnios associated with congenital malformations was performed prenatally in 41% of the cases; 16% of the infants were stillborn. Fifty-five percent of the cases had more than one malformation, 13.4% of them had a chromosomal aberration, and 32% had multiple malformations that do not constitute a syndrome. There was an increase of consanguinity in the parents of our patients. The incidence of polyhydramnios and congenital anomalies in first-degree relatives was 3.8%, and first-degree relatives had more malformations than the controls had (8.3% vs 3.2%). Our study demonstrated the low capacity of a general prenatal screening program because the diagnosis of malformations associated with polyhydramnios was made in only 41% of the cases and only six of 21 chromosomal abnormalities were diagnosed prenatally. We recommend the use of fetal chromosome analysis and careful ultrasonographic examination in every pregnancy complicated by polyhydramnios.     

Infant mortality from congenital malformations in the United States, 1970-1997

OBJECTIVE: We examined a trend in infant mortality caused by congenital malformations in the United States, particularly for the racial disparity between whites and nonwhites. METHODS: We used US annual summary data on cause-specific infant mortality for 1970-97 and detailed birth and infant death linked data for 1985-87, 1989-91, and 1995-97. RESULTS: Congenital malformations became a more prominent cause of infant mortality in 1997 and accounted for 22.1% of all infant deaths compared with 15.1% in 1970. Congenital malformations of nervous, cardiovascular, and respiratory systems accounted for more than 60% of all malformation deaths. Malformations incompatible with life (anencephaly, encephalocele, hypoplastic lungs, renal agenesis, and trisomies 13 and 18) were the cause of one-third of all malformation deaths. In 1970-71, infant mortality caused by congenital malformations in nonwhites was lower, 2.6 (confidence interval [CI] 2.5, 2.7) per 1000, compared with whites, 3.1 (CI 3.0, 3.1) per 1000. However, in 1996-97, the rate of congenital malformation-specific infant mortality was higher in nonwhites, 1.7 (CI 1.7, 1.8) per 1000, compared with whites, 1.6 (CI 1.5, 1.6) per 1000. This trend was most pronounced with central nervous system malformations. Although whites had an almost two-fold higher infant mortality rate from central nervous system malformations compared with nonwhites in 1970-71, this disparity was no longer present by 1996-97. CONCLUSION: Congenital malformations have become a leading cause of infant mortality in the 1990s. Over the last several decades, this mortality declined more slowly in nonwhites than in whites.     

Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England

OBJECTIVE: This study was undertaken to provide epidemiologic data on the prevalence of holoprosencephaly and to assess the sensitivity of routine ultrasonographic screening in a low-risk population. STUDY DESIGN: A population-based register of congenital abnormalities was used to identify reported cases of holoprosencephaly between 1985 and 1998. Sources included fetal losses, termination for fetal anomaly, stillbirths, and live births. Prenatal diagnoses and pregnancy outcomes were determined. RESULTS: Sixty-eight cases of holoprosencephaly were found among 531,686 births. The total prevalence (including pregnancy terminations) was 1.2 cases/10,000 registered births, and the birth prevalence (affected live births and stillbirths at >24 weeks' gestation) was 0.49 cases/10,000 births. Prenatal diagnosis was achieved in 71% of cases, rising to 86% during the second half of the study period; the mean gestational age at diagnosis was 19.8 weeks' gestation. Chromosomal abnormalities (75% of which were trisomy 13) were present in 38% of cases in which a karyotype was established. All those with aneuploidy (80% diagnosed prenatally) had other nonfacial anomalies; additional anomalies were also common in the euploid group (61% diagnosed prenatally), with 90% having facial abnormalities and 70% having other abnormalities. CONCLUSION: The prevalence of holoprosencephaly in second-trimester pregnancies was about 1 in 8000. Prenatal detection reached 86% with a routine anomaly scanning program. The etiology could usually be determined, which has important implications for recurrence risks.     

Trends and characteristics of fetal and neonatal mortality due to congenital anomalies,Colombia 1999–2008

Objective: To describe fetal and neonatal mortality due to congenital anomalies in Colombia.

Methods: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999–2008.

Results: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3.4% of all fetal deaths) and 15,040 neonatal deaths (19.3% of all neonatal deaths). The fetal mortality rate due to congenital anomalies was 9.9 per 10,000 live births and fetal deaths; the neonatal mortality rate due to congenital anomalies was 20.8 per 10,000 live births. Mortality rates due to congenital anomalies remained relatively stable during the study period. The most frequent fatal congenital anomalies were congenital heart defects (32.0%), central nervous system anomalies (15.8%), and chromosomal anomalies (8.0%). Risk factors for fetal and neonatal death included: male or undetermined sex, living in villages or rural areas, mother’s age >35 years, low and very low birthweight, and <28 weeks gestation at birth.

Conclusions: Congenital anomalies are an important cause of fetal and neonatal deaths in Colombia, but many of the anomalies may be preventable or treatable.     

Evaluation of a rapid optical immunoassay-based test for group B streptococcus colonization in intrapartum patients

Objective.?To investigate the association between cleft lip and/or palate and perinatal mortality.

Methods.?A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997.

Results.?347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes - 2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5–7.0).

Conclusion.?Consideration should be given to screening the fetus at 20–24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.     

Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe

Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects.     

Associated malformations in congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a severe neonatal anomaly. The aim of this study was to evaluate the frequency and types of malformations associated with CDH. The outcome was compared with that in newborns with CDH alone. The study included 362 fetuses and newborns at a single national center for CDH. Associated malformations and chromosomal aberrations were noted prenatally and postnatally. The neonatal outcome was assessed relative to the use of extracorporeal membrane oxygenation (ECMO) and the mortality rate. At least one associated malformation was diagnosed in 143 cases (39.5%). Altogether, 272 associated malformations were found. Only 50 (18.4%) anomalies were diagnosed antenatally. In 62 (17.1%) cases, 102 major malformations were found along with CDH, with a prenatal detection rate of 35.3%. The associated malformations were very heterogeneous, but cardiovascular malformations were the most common. Newborns with major anomalies, chromosomal aberrations, or syndromes additional to CDH had a significantly lower survival rate than newborns with an isolated CDH. Associated malformations did not affect the rate of ECMO treatment. Associated malformations in CDH are frequent and heterogeneous, and diligent and experienced antenatal and postnatal care is important.     

Congenital syphilis: the University of Miami/Jackson Memorial Medical Center experience, 1986-1988

Between January 1, 1986 and July 1, 1988, 56 cases of congenital syphilis were identified at the University of Miami/Jackson Memorial Medical Center. The overall rate was 18.4 cases per 10,000 births, with a threefold increase found from 1986 to 1988. A case-control study using matched pairs was done to identify differences in maternal demographics and pregnancy outcome. Congenital syphilis case mothers were predominantly black American women who lacked prenatal care (67%) and who were substance abusers (71%) significantly more often than their matched controls (P less than .005). Three cases of seroconversion in pregnancy were identified. Failure to screen or inappropriate treatment occurred in four patients. Seven women were treated during pregnancy: Five received benzathine penicillin G for 3 consecutive weeks and two received erythromycin. All treated patients presented for initial care in the late second or third trimester. Thirty-seven infants (66%) were live-born and 19 (34%) were stillborn. Preterm labor and premature rupture of the membranes were significantly more common in infected pregnancies than in controls (P less than .005). Live-born case infants had significantly lower birth weights than controls (P less than .005), with 21% of case infants growth-retarded. Seven neonatal deaths and one infant death occurred. The resultant perinatal mortality rate from congenital syphilis in this series was 464 pe 1000.     

Mortality of full-term infants during the first month of life in a tertiary care hospital.

OBJECTIVE: The neonatal mortality rate is disproportionately influenced by preterm infants and does not reflect the rate in full-term infants. Our objectives were to estimate the full-term neonatal mortality rate and to identify causes of death in full-term infants during the first month of life. STUDY DESIGN: A retrospective study of full-term infant deaths during a 6-year period from 2000 to 2005, in a tertiary medical center. RESULT: During the study period there were 44,703 full-term births and 31 deaths, representing a mortality rate of 0.69 per 1,000 live births. The main cause of death was congenital anomalies (64.5%), specifically cardiac anomalies. Other causes were chromosomal anomalies or syndromes (12.9%), labor complications (12.9%), infections (3.2%), congenital diseases (3.2%) and metabolic disorders (3.2%). CONCLUSION: The mortality rate of full-term infants may be lower than previous estimates. Efforts aimed at decreasing mortality among full-term infants should focus on prenatal diagnosis.     

Evaluation of prenatal diagnosis of cleft lip with or without cleft palate and cleft palate by ultrasound: experience from 20 European registries. EUROSCAN study group

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of cleft lip with or without cleft palate (CL(P)) and cleft palate (CP). All CL(P) and CPs suspected prenatally and identified at birth in the period 1996-98 were registered from 20 Congenital Malformation Registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK, Ukraine. These registries followed the same methodology. A total of 709,027 births were covered; 7758 cases with congenital malformations were registered. Included in the study were 751 cases reported with facial clefts: 553 CL(P) and 198 CP. The prenatal diagnosis by transabdominal ultrasound of CL(P) was made in 65/366 cases with an isolated malformation, in 32/62 cases with chromosomal anomaly, in 30/89 cases with multiple malformations and in 21/36 syndromic cases. The prenatal diagnosis of CP was made in 13/198 cases. One hundred pregnancies were terminated (13%); in 97 of these the cleft was associated with other malformations.     

Prenatally diagnosed balanced chromosome rearrangements: eight years' experience

OBJECTIVE: To investigate the incidence and pregnancy outcome of prenatally diagnosed balanced chromosome rearrangements from amniocentesis. STUDY DESIGN: Between January 1996 and December 2003, we collected cases with balanced chromosome rearrangements from amniocentesis specimens submitted to our cytogenetics laboratory for fetal karyotyping. Data on maternal age, indication for amniocentesis, detailed anatomic sonographic findings, gestational age at delivery, newborn birth weight and infant anomalies, if any, were obtained by chart review. RESULTS: A total of 66 cases of balanced chromosomal translocations or inversions were identified from the 12,468 amniocentesis specimens. Specifically, 0.256% had a reciprocal translocation, 0.080% had a Robertsonian translocation, and 0.192% had an inversion. The incidences of de novo reciprocal translocations, Robertsonian translocations and inversions were 0.080%, 0.016% and 0.024%, respectively. Abnormal prenatal sonographic findings occurred in 2 cases, 1 in an inherited case and 1 in a de novo case. Abnormal postnatal findings occurred in 5 cases, 3 in inherited cases and 2 in de novo cases. Excluding the cases with minor congenital anomalies, the major congenital anomaly rates of inherited and de novo chromosome rearrangements were 1.96% and 6.66%, respectively. CONCLUSION: The incidences of prenatally diagnosed de novo reciprocal translocations, de novo Robertsonian translocations and de novo inversions were higher than those reported in previous, larger series. The major congenital anomaly rates for inherited and de novo chromosome rearrangements were higher than the 1.4% congenital anomaly rate in our general population. Consequently, detailed ultrasound examination and parental karyotyping should be viewed as essential measures in dealing with prenatally diagnosed balanced chromosome rearrangements.     

Evaluation of the prenatal diagnosis of limb reduction deficiencies. EUROSCAN Study Group

Ultrasound scans in the mid-trimester of pregnancy are now a routine part of antenatal care in most European countries. Using data from registries of congenital anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of limb reduction deficiencies (LRD) by routine ultrasonographic examination of the fetus. All LRDs suspected prenatally and all LRDs (including chromosome anomalies) confirmed at birth were identified from 20 Congenital Malformation Registers from the following 12 European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries are following the same methodology. During the study period (1996-98) there were 709,030 births, and 7,758 cases with congenital malformations including LRDs. If more than one LRD was present the case was coded as complex LRD; 250 cases of LRDs with 63 (25.2%) termination of pregnancies were identified including 138 cases with isolated LRD, 112 with associated malformations, 16 with chromosomal anomalies and 38 non chromosomal recognized syndromes. The prenatal detection rate of isolated LRD was 24.6% (34 out of 138 cases) compared with 49.1% for associated malformations (55 out of 112; p<0.01). The prenatal detection of isolated terminal transverse LRD was 22.7% (22 out of 97), 50% (3 out of 6) for proximal intercalary LRD, 8.3% (1 out of 12) for longitudinal LRD and 0 for split hand/foot; for multipli-malformed children with LRD those percentages were 46.1% (30 out of 65), 66.6% (6 out of 9), 57.1% (8 out of 14) and 0 (0 out of 2), respectively. The prenatal detection rate of LRDs varied in relation with the ultrasound screening policies from 20.0% to 64.0% in countries with at least one routine fetal scan.     

Congenital malformations due to anticonvulsive drugs.

A retrospective study of congenital malformations in the offspring of 20 women who received antiepileptic drugs during pregnancy is presented. Of 56 births, 9 children (16%) were born with malformations. Four children were born dead or died shortly after delivery. Congenital heart disease, cleft lip with or without cleft palate, neural tube defects, and skeletal abnormalities were the commonest anomalies found. One child had a recognizable pattern of multiple malformations. The increased perinatal mortality was mainly due to congenital malformations and spontaneous hemorrhage. The teratogenic activity of anticonvulsant drugs is mediated by interference with folic acid metabolism, and such activity might be influenced by hereditary and environmental factors. Bearing in mind the importance of anticonvulsant therapy in epilepsy, there is certainly need for an investigation of the problem in a larger and more representative birth population than that described.     

Congenital visceral malformations--role of perinatal autopsy in diagnosis

OBJECTIVES: Congenital malformations are one of the leading causes of perinatal deaths and infant mortality. The objective of the present study is to detect visceral malformations in perinatal autopsies. DESIGN: A retrospective analysis of perinatal autopsies performed between 1998 and 2001 was done. Various visceral malformations were noted and categorized as urologic, cardiac, respiratory, gastrointestinal and miscellaneous. RESULTS: Out of a total of 62 perinatal autopsies performed, congenital malformations were present in 38.7% of cases. Visceral malformations were observed in 24.1% of cases. Urologic malformations were the commonest (14.1%), followed by cardiac (8%) malformations. Associated external malformations were present in 6/15 cases, cardiac malformations being commonly associated with skeletal malformations. CONCLUSIONS: In all the cases, internal malformations were not suspected clinically. Thus, autopsy is an invaluable tool for detecting visceral malformations, adding to the clinical diagnosis and providing a feedback to the parents.     

Esophageal atresia in the Northern Region Congenital Anomaly Survey, 1985-1997: prenatal diagnosis and outcome

OBJECTIVE: This study was undertaken to determine the rate of prenatal diagnosis and surgical outcome of all cases of esophageal atresia reported to the Northern Region Congenital Anomaly Survey. STUDY DESIGN: A retrospective review was conducted on maternal and infant case notes of all cases of esophageal atresia in the Northern Region from 1985-1997, inclusive. RESULTS: A total of 176 cases of esophageal atresia was reported, and 158 diagnoses were confirmed after birth. Six cases were excluded because of incomplete data. Among the 32 patients in whom esophageal atresia was suspected antenatally because of an absent stomach bubble and hydramnios, 14 (44%) had esophageal atresia confirmed postnatally. In 10 of the 18 patients with false-positive diagnoses the stomach was subsequently seen. Esophageal atresia should have been suspected prenatally in a further 38 patients with polyhydramnios, 3 of whom also had an absent stomach bubble. There were 12 pregnancy terminations, 1 spontaneous abortion, and 19 perinatal deaths (including 9 stillbirths). Among the patients with esophageal atresia, 63.2% had associated anomalies (including 5.3% with aneuploidy), and 78.4% of these anomalies were missed prenatally. Among the live births 21.5% of the infants had a birth weight below the 5th percentile. One hundred eight (90%) had esophageal atresia with a distal tracheoesophageal fistula, and overall 102 (85%) underwent a primary repair. Among the 120 infants who underwent surgical treatment 11 subsequently died, and 6 of these deaths were related to postoperative complications. Thirty-nine infants (32.5%) had postoperative gastroesophageal reflux, necessitating fundoplication in 21 cases. At 2-year follow-up 23 of 89 infants had dysphagia, for which 7 still required a gastrostomy or jejunostomy. Infants in whom the condition was diagnosed prenatally were more likely to need prolonged mechanical ventilation, to have a longer hospital stay, and to have long-term gastrointestinal problems. CONCLUSIONS: Most cases of esophageal atresia are not suspected prenatally. Among fetuses with ultrasonographic features suggestive of esophageal atresia, 50% have the disorder confirmed postnatally. Overall perinatal and infant mortality rate among those with esophageal atresia is high (21.6%), and a further 21% of affected infants have significant morbidity after the age of 2 years.     

Perinatal management and outcome of prenatally diagnosed congenital diaphragmatic hernia: a 1995-2000 series in Rennes University Hospital

OBJECTIVES: To assess the prognosis of prenatally diagnosed congenital diaphragmatic hernia (CDH) during the years 1995-2000 in order to improve prenatal counselling. METHODS: Retrospective study of all 31 cases of women with prenatally diagnosed CDH. RESULTS: Nine pregnancies (29%) were terminated and two fetuses (6%) were stillborn. Ten fetuses (32%) had associated anomalies (four Fryns' syndrome) and four (13%) had underlying chromosomal anomalies. Twenty pregnancies were continued. Seven babies died before surgery either immediately in the delivery room (five between 1 and 45 min), or during the 'stabilisation period' (two babies, 7 and 21 h). Three babies presented with trisomy 18, Fryns' syndrome or transposition of the great arteries with microdeletion 22q11. Thirteen babies had the defect repaired (median 18 h, range 4-72 h) and 12 survived. Mechanical ventilation was required for a median of 12 days. One survivor has cerebral palsy. CONCLUSION: Of 31 prenatally diagnosed CDH cases 38% are alive, of 20 ongoing pregnancies 60% are alive, and of 13 babies who underwent surgery 92% are alive. No baby with associated malformations survived. These numbers need to be known by each member of the counselling team in order to give parents adequate information to make their decision.     

Outcome for fetuses with prenatally detected congenital heart disease and cardiac arrhythmias in Taiwan.

BACKGROUND/PURPOSE: Outcome for fetuses with prenatally detected congenital heart disease (CHD) and/or cardiac arrhythmias is important for prenatal counseling and perinatal management; however, there exists little literature regarding the outcome for CHD diagnosed in utero in Taiwan. Therefore, we attempted to investigate the outcome for fetuses with CHD and/or cardiac arrhythmias diagnosed prenatally at a tertiary care medical center in Taiwan. METHODS: Between January 1995 and December 2000, 339 patients referred to the National Taiwan University Hospital for fetal echocardiography were included in this study. Medical records were reviewed retrospectively to determine the salient clinical characteristics for all fetuses. RESULTS: CHD was found in 103 fetuses. Gestational age at diagnosis ranged from 17 to 40 weeks; in 37 cases (35.9%) the diagnosis was made before 24 weeks. Mean gestational age at diagnosis was 27.8 weeks. Of the 103 cases, 15 fetuses (14.6%) had major extra cardiac malformations and 15 fetuses (14.6%) had chromosomal abnormalities (five had both) and 30 pregnancies (29.1%) were terminated. Of the remaining 73 pregnancies, three (4.1%) of the fetuses died in utero and 28 (38.4%) postnatally, with 42 (57.5%) surviving. The mortality rates were both 60% in cases with extracardiac or chromosomal anomalies. Arrhythmias were identified in 25, and two pregnancies involving hydrops fetalis were terminated. Of the remaining 23 continued pregnancies, two (8.7%) with long QT syndrome expired postnatally. CONCLUSION: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.     

An epidemiological study of holoprosencephaly from a regional congenital anomaly register: 1995-2004

BACKGROUND: Adequate contemporary information to counsel patients with a prenatal diagnosis of holoprosencephaly is lacking. We addressed this using data from the West Midlands Congenital Anomaly Register (WMCAR), a population-based malformation register, during a time where technological improvements have been stable and anomaly screening is well established. METHODS: Cases were defined using the ICD 10 code for holoprosencephaly. Cases of livebirths, stillbirths and termination at all gestations were included in the study. The diagnosis was verified by a pathology or definitive radiological report with cross validation from the regional pathology, clinical genetics, cytogenetics and fetal medicine databases. RESULTS: There were 113 cases reported of holoprosencephaly for the years 1995-2004. This represents a prevalence of 1.7 per 10,000 births and terminations, with no change in prevalence over time. There was a decreased risk of holoprosencephaly in the white population [white vs. nonwhite; RR 0.53(0.36-0.79)]. Karyotypical abnormality was noted in 46% of cases where the karyotype was known. Trisomy 13 was the most common chromosomal abnormality. Correct allocation of a diagnosis of holoprosencephaly by ultrasound occurred in 77% of cases, with another 12% having a severe intracranial abnormality but was not reported as holoprosencephaly. In 4%, a prenatal diagnosis of holoprosencephaly was not made. Termination of pregnancy was performed in 80% of all cases. CONCLUSION: Holoprosencephaly is a morbid condition associated with significant secondary etiologies.     

Fetal malformations associated with breech delivery. Implications for obstetric management

Among 1,411 breech deliveries at the Soroka Medical Center, Beer-Sheva, Israel, there were 116 cases of congenital anomalies (8.2 %). Forty-nine fetuses (3.47%) exhibited major congenital anomalies and 67 (4.7%), minor ones. The incidence of chromosomal anomalies was 0.63% (1 per 159 births) as compared with 0.25% in the general population. The frequency distribution indicated that most of the fetuses with congenital abnormalities weighed 2,000 gm or more. In view of the high incidence of chromosomal aberrations and major congenital anomalies among fetuses with breech presentation, it seems desirable to consider ultrasonographic assessment and chromosomal analysis during the last trimester of pregnancy.