Congenital diaphragmatic hernia: intensive care unit or operating room?

Despite improvements in prenatal diagnosis and neonatal intensive care, the Congenital Diaphragmatic Hernia (CDH) Registry still records a 64% survival rate. Many reports demonstrate, however, that approximately 80% of CDH patients with no other malformations may survive if managed with permissive hypercapnia, gentle ventilation, high-frequency oscillatory ventilation (HFOV), surfactant, inhaled nitric oxide (iNO) and extracorporeal membrane oxygenation (ECMO), and delayed surgical repair. We wished to define the evolving outcome of CDH newborns using a protocol approach to management, which includes surgery in the neonatal intensive care unit (NICU) or operating room (OR). From January 1996, data were collected prospectively on 42 consecutive live-born infants with CDH. Newborns symptomatic at birth were sedated and paralyzed in the delivery room, and treated with elective HFOV, iNO, surfactant, and ECMO as necessary, delaying surgical repair until their clinical conditions were stable. Once the CDH newborn was stabilized, a trial on conventional ventilation was started at least 24 hours before surgery; however, if the patient was unstable, therapy was switched back to HFOV and surgery was performed in the NICU. Demographic and clinical parameters were compared between CDH newborns who underwent surgery in the NICU and in the OR. The two groups were comparable in terms of clinical characteristics and baseline ventilatory and blood gas values. Mean age at surgery was 3 +/- 2 days. After surgery, the NICU group had more infectious complications. However, the survival rate of uncomplicated CDH was 78% and a low rate of chronic lung disease was reported. A prolonged phase of presurgery stabilization is proposed and strict control of infection is recommended for the CDH newborns who might benefit from an exclusive HFOV and NICU surgery.     

Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France

OBJECTIVE: To evaluate the detection rate of prenatal diagnosis and its impact on outcome in congenital diaphragmatic hernia (CDH). STUDY DESIGN: We retrospectively studied 51 cases of CDH registered in the Auvergne area from January 1992 to December 2003 (Birth Defect Registry of Auvergne, Institut Européen des Génomutations). Our main outcome measurements were the detection rate of prenatal diagnosis, the incidence and types of associated anomalies and outcome (termination of pregnancy, in utero fetal demise, neonatal death, survival at the time of registration). RESULTS: Twenty-nine cases of isolated CDH were identified of which 13 were detected prenatally (45%) at a mean gestational age of 26.1 weeks and 22 cases of CDH with associated anomalies with prenatal diagnosis of CDH or any associated anomaly in 16 (73%; p=0.03) at a mean gestational age of 23.9 weeks. In the prenatally detected group (29 cases), there was 1 (3%) in utero fetal death (IUFD), 17 (59%) terminations of pregnancy (TOP) and 11 (38%) live births with early neonatal death in 7 (24%) cases despite delivery in a tertiary care centre in 10/11 cases (four survivors=14%). Most of the undetected cases were isolated CDH (16/22=73%) of which 1 (5%) was a stillborn and 21 (95%) live births with 17 survivors (77%) although 15/21 (71%) were not born at the tertiary care centre (p=0.001). The overall survival rate was 41% with a large variability depending on associated anomalies and prenatal diagnosis (p<0.0001) (prenatally detected cases: 3/13 (23%) isolated CDH and 1/16 (6%) CDH with associated anomalies; undetected cases: 13/16 (81%) isolated CDH and 4/6 (67%) CDH with associated anomalies). CONCLUSION: Prenatal diagnosis of CDH leads to the delivery of affected babies in tertiary care centres but it remains a challenge in particular for isolated CDH cases and it is associated with a lower survival rate. Associated anomalies contribute to prenatal detection, are related to a higher TOP rate but do not facilitate the detection of diaphragmatic defect per se.     

ECMO in the newborn

Since the first use in neonates in 1974, extracorporeal membrane oxygenation (ECMO) has been a life-saving technology for newborns with respiratory and cardiac failure. ECMO has been used to treat a variety of cardio-respiratory problems, including meconium aspiration syndrome (MAS), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis, and cardiac anomalies. For this group of high-mortality neonates, ECMO has produced a survival of 76% in all newborns treated. This review article will examine the current selection criteria for ECMO, the clinical management of neonates on ECMO and discuss the long-term outcome of neonates treated with ECMO.     

Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?

Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare.OBJECTIVE: The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. METHODS: Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. RESULTS: At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. CONCLUSION: This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.     

ECMO for neonatal respiratory failure

Extracorporeal membrane oxygenation (ECMO) has been offered as a life-saving technology to newborns with respiratory and cardiac failure refractory to maximal medical therapy. ECMO has been used in treatment of neonates with a variety of cardio-respiratory problems, including meconium aspiration syndrome (MAS), persistent pulmonary hypertension of the neonate (PPHN), congenital diaphragmatic hernia (CDH), sepsis/pneumonia, respiratory distress syndrome (RDS), air leak syndrome, and cardiac anomalies. For this group of high-risk neonates with an anticipated mortality rate of 80% to 85%, ECMO has an overall survival rate of 84%, with recent data showing nearly 100% survival in many diagnostic groups. This article reviews the current selection criteria for ECMO and the clinical management of neonates on ECMO, and discusses the long-term outcome of neonates treated with ECMO.     

Fetal malformations associated with chronic polyhydramnios in singleton pregnancies.

Forty-one congenital malformations were found in 28 newborns in a group of 197 cases of chronic polyhydramnios in singleton pregnancies. Of these, a total of 61% (17/28) was antenatally diagnosed ultrasonically. Nine newborns (4.5%) had malformations of the central nervous system (CNS), 9 (4.5%) cardiovascular malformations, 8 (4.1%) musculoskeletal anomalies, 7 (3.6%) malformations of the urinary and reproductive system, 4 (2%) respiratory system anomalies and 3 (1.6%) anomalies of the gastrointestinal system. Chromosomal abnormalities were found in three cases. As the association of polyhydramnios with fetal congenital anomalies is quite high (14.2% in our series), it is imperative to make a major effort to antenatally detect as many cases as possible. This means that in the case of hydramnios the following are required: ultrasound examination by an expert, echo ultrasonography when no other abnormalities are detected, and maybe even a chromosomal analysis.     

Outcome of fetal urinary tract anomalies associated with multiple malformations and chromosomal abnormalities

The purpose of this study was to identify prognostic factors and describe the outcome of prenatally detected renal anomalies associated with multiple malformations and chromosomal defects. Forty-one fetuses were included in the analysis. Prenatal ultrasound reports, neonatal records and autopsy information were retrospectively reviewed. Prognostic factors associated with fetal echography and clinical and laboratory findings on admission were studied. Data were analyzed by univariate analysis in which variables associated with adverse outcome were identified by the Chi-square test or Fisher exact test. The abnormalities associated with renal anomalies were divided into three groups: chromosomal defects (21%), previously described syndromes and conditions (24%), and new sporadic conditions (55%). Of 41 children admitted, 30 (76%) died during the perinatal period. The presence of oligohydramnios was significantly associated with an adverse outcome (OR=11, p=0.05). Male gender was a protective factor against death during the perinatal period (OR=0.11, p=0.01). In conclusion, prenatally detected renal anomalies associated with multiple malformations and chromosomal defects had a poor prognosis. The presence of oligohydramnios increased the risk of death, and male gender had a protective role against poor outcome.     

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q.     

Distribution of congenital anomalies in a neonatal intensive care unit in Turkey

Abstract

Background: Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey.

Method: A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies.

Results: A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA.

Conclusion: In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.     

Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit

OBJECTIVES: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. METHODS: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. RESULTS: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia. CONCLUSIONS: The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow-up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies.     

Omphalocele: clinical outcomes in cases with normal karyotypes

OBJECTIVE: This study was undertaken to examine neonatal outcomes in karyotypically normal cases of omphalocele with respect to mode of delivery, presence of associated anomalies, presence of extracorporeal liver, and method of abdominal wall closure. STUDY DESIGN: We reviewed 36 cases of omphalocele with delivery at University of North Carolina Hospitals between 1988 and 2001. Elective terminations and pregnancies resulting in miscarriage before 20 weeks' gestation were excluded. RESULTS: Perinatal mortality rate was 19%. Rate of composite neonatal morbidity was 25%. Associated major anomalies were present in 11 (31%) cases and were associated with increased neonatal mortality. Cesarean deliveries were performed in 21 (58%) cases and were not associated with increased primary closure rates or decreased neonatal morbidity and mortality. Extracorporeal liver was present in 27 (75%) cases and was associated with decreased rates of primary closure but did not affect neonatal outcome. CONCLUSION: In cases of ongoing omphalocele, perinatal mortality rates are low in the absence of associated anomalies or genetic defects. Intracorporeal liver was not associated with increased rates of associated anomalies or was it associated with increased neonatal morbidity or mortality.     

Cytogenetic findings and reproductive outcome of infertile couples referred to an assisted reproduction program

It is still undefined whether all the couples entering an assisted reproduction program should undergo to karyotype analysis. The present study was conducted to determine the prevalence of chromosomal abnormalities in a non-selected sample of 1,146 couples referred to assisted reproduction technologies (ART), and to analyze the outcome of pregnancies from couples in whom cytogenetic anomalies were detected. Irrespective of the infertility factor, fertilization was achieved by intracytoplasmic sperm injection (ICSI). A total number of 35 karyotype anomalies were diagnosed, corresponding to an abnormality frequency of 1.52% (1.83% for men and 1.22% for women). As could be expected, the majority of men presenting katyotype anomalies had a low sperm count. Among women, the majority of cytogenetic anomalies were detected in individual not presenting risk factors for aberrant karyotype. Around 41% of pregnancies achieved in couples presenting chromosomal anomalies ended in spontaneous abortion. Information on fetal karyotype was limited. No major malformations were observed among newborns from parents with abnormal karyotype. In consideration of the elevated frequency of pregnancy loss, it seems advisable to recommend that chromosomal analysis be performed in all couples undergoing ART. This with the aim of identifying patients that would possibly benefit from pre-implantation genetic diagnosis.     

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.     

产前超声诊断单脐动脉与胎儿异常的相关性研究

目的探讨超声检测胎儿脐带血管数目预测胎儿先天异常的价值。方法2000年1月至2006年10月在中山大学附属第一医院采用超声检测胎儿脐血管数目，对单脐动脉胎儿行产前超声系统筛查及胎儿染色体检查；分析单脐动脉合并畸形类型，与染色体异常的关系及胎儿结局。结果产前超声诊断胎儿单脐动脉119例，包括左侧72例（60．5％），右侧47例（39．5％）。单纯性单脐动脉59例（49.6％）；合并其他结构畸形60例（50．4％），其中泌尿系统畸形25例（41．7％），心血管系统畸形17例（28.3％），中枢神经系统畸形15例（25.0％），下肢畸形9例（15．0％），前腹壁和消化道畸形各5例（各占8．3％），唇裂或唇腭裂畸形3例（5．0％），其他畸形3例（5．0％）。行胎儿染色体检查41例，发现染色体异常8例，包括18-三体综合征3例、13-三体综合征1例、21．三体综合征1例、染色体片段异常3例，均合并其他畸形。结论胎儿单脐动脉左侧发生率高于右侧，约50％合并其他畸形；合并畸形时，染色体异常发生率较高；大部分单纯性单脐动脉胎儿结局良好。     

Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000

OBJECTIVES: To describe trends in incidence, associated anomalies, clinical outcomes and sensitivity of prenatal diagnosis for congenital malformations of the diaphragm in the West Midlands Region between 1995 and 2000. METHODS: Information was retrieved from a population-based register of major congenital malformations in a health region of England, the West Midlands Congenital Anomaly Register (WMCAR), between 1995 and 2000. RESULTS: One hundred and sixty-one confirmed cases of congenital malformations of the diaphragm were notified from 396 577 births. This gives an incidence of 4.1 per 10,000 births. After natural losses and terminations, the incidence at birth was 2.9 per 10,000 registered births. For live-born cases, the infant mortality rate was 317 per 1000 births. 47% of the cases had additional structural or chromosomal anomalies; the infant mortality rate for these complex cases was 533 per 1000, an increased relative risk of 2.37 compared with isolated lesions. 66% of the cases were diagnosed prenatally, 51% of isolated lesions and 84% of complex cases. Fourteen prenatally diagnosed cases (12%) were false-positives; however, 11 of these cases had other significant pathology. These 14 cases were not included in the 161 confirmed cases. CONCLUSION: Congenital malformations of the diaphragm remain associated with considerable infant mortality. Most cases are now diagnosed before birth and the prognosis is adversely affected by the presence of other structural or chromosomal anomalies. This presents significant challenges for those involved in counselling the parents of affected fetuses.     

Prenatal diagnosis of congenital diaphragmatic hernia: an update

Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most frequently the diaphragmatic defect is a left and posterolateral (Bochdalek) one. Prenatal diagnosis is made at ultrasonography; the relevant sonographic features will be described in the paper. Cystic adenomatoid malformation of the lung (CAML), pulmonary sequestration, bronchogenic cysts, pulmonary hypoplasia/agenesia need to be considered in differential diagnosis. In some cases, diagnosis of CDH is not possible "in utero": in such cases, herniation of abdominal viscera into the thorax takes place presumably just at delivery through a small diaphragmatic defect. CDH may be associated with intrauterine growth retardation (IUGR), chromosomal abnormalities (3%) and/or other malformations (10-50%): such as Central Nervous System, digestive, cardiac and urogenital anomalies. Therefore, search of associated malformations and amniocentesis with analysis of fetal karyotype are mandatory, whenever a CDH is diagnosed. CDH is still at present characterised by a high mortality (reportedly, about 45%). Many prognostic factors have been correlated to postnatal outcome of CDH: some of them are valuable prenatally by ultrasonography. However, the role of sonography in the prediction of neonatal outcome is still controversial: in particular, although many ultrasonographic parameters have been proposed, prenatal evaluation of pulmonary hypoplasia (a crucial factor related to postnatal survival) has not proved to be very accurate so far. Nevertheless, it is undisputable that prenatal diagnosis itself represents a crucial prognostic factor for CDH, since it allows birth of the affected fetuses in 3d level Perinatologic Centres provided with a Neonatal Intensive Care Unit and Neonatal Surgery.     

Prenatal diagnosis and management of congenital heart disease

Thirty-two fetuses were diagnosed as having congenital heart disease (CHD). The major indications for level II echocardiography other than suspected cardiac abnormalities were fetal malformations, nonimmune hydrops and cardiac arrhythmia. Only three patients had a previous history of fetal CHD. No false-abnormal diagnosis of severe CHD was made. Aortic arch anomalies represented the major diagnostic problem among the six correct but incomplete diagnoses. Sixty-one percent of the fetuses were growth retarded, thus confirming the severity of their CHD. Chromosomal anomalies and extracardiac malformations were associated in 19% and 44% of the fetuses, respectively. Obstetric management and fetal prognosis in cases of extracardiac malformations were greatly influenced by the diagnosis of CHD. The poorest perinatal outcome was associated with heart failure. The only intrauterine deaths occurred in that group, and only one neonate survived. The outcome was more favorable in neonates without other malformations or heart failure. Four of ten (40%) of those neonates survived, while the overall perinatal survival rate was 24%.     

Pulmonary hypertension in children following extracorporeal membrane oxygenation therapy and repair of congenital diaphragmatic hernia.

OBJECTIVE: Pulmonary hypertension (PHT) is present in all children at birth, but its degree and rate of resolution in infants diagnosed with congenital diaphragmatic hernia (CDH) requiring extracorporeal membrane oxygenation (ECMO) need to be established. STUDY DESIGN: Twenty-one ECMO/CDH survivors (aged 3.2 +/- 1.4 years) were prospectively evaluated by Doppler echocardiography (ECHO) to determine the presence of PHT. Twenty children without structural heart disease were used as controls. Study patients received a physical examination and an electrocardiograph examination, and their charts were reviewed for neonatal course data. Patients found to have PHT by ECHO received a complete history and exercise treadmill/oxygen desaturation study. RESULTS: Eight of the 21 patients (38%) met echocardiographic criteria for PHT. No neonatal course data were found to be predictive of eventual PHT status. There was no correlation between physical examination or electrocardiographic findings and PHT. Complete histories showed five of the eight patients with PHT had some degree of exercise intolerance and seven had wheezing. Two of the seven patients studied on the treadmill desaturated 5% or greater from baseline. CONCLUSION: There is evidence that PHT either persists or recurs in a significant portion of the ECMO/CDH population and may remain symptomatic well beyond the neonatal period.     

Congenital diaphragmatic hernia--diagnostic and therapeutic procedures

Congenital diaphragmatic hernia (CDH) is connected with a high risk of neonatal mortality and morbidity, which are caused mostly by lung hypoplasia. Frequency of these congenital malformations is 1: 2000-3000 live birth. CDH can be isolated, but in as many as 23% of cases, it co-exists with other fetal anomalies. Moreover, in 12% of cases it may be connected with genetically determined syndromes. Ultrasonographic diagnostics, especially in isolated CDH cases, is very difficult so that pregnant women must very often be admitted to perinatal 3rd references center. The first symptom to suggest CDH is polyhydramnios appearing between the 2nd and 3rd trimester of pregnancy. Appropriate prenatal diagnosis, delivery at a specialized perinatal center, and well-prepared neonatal, anaesthesiological and surgical teams significantly improve the survival rate and increase the likelihood of the proper development of newborn infants. The aim of this paper is the presentation of the case of a newborn diagnosed with intrauterine CDH who, upon delivery at 34th week of gestation, was admitted to the Department of Child Surgery, and after surgical procedures, was discharged in a healthy condition.     

Chromosomal prenatal diagnosis: study of 936 cases of intrauterine abnormalities after ultrasound assessment

Nine hundred and thirty-six prenatal chromosomal analyses were performed by four cytogenetic centres after ultrasound diagnosis of fetal abnormalities, amniotic fluid disorders, fetal growth retardation, and fetal or placental abnormalities. During the same period, 6515 fetal karyotypes were analysed because of maternal age. Frequencies of chromosomal aberrations in each case were respectively 4.4, 6.7 and 15.8 per cent, compared with 3.18 per cent when the fetal karyotype was performed because of maternal age. High rates of chromosomal aberrations are observed in cases of cervical hygroma, limb abnormalities, omphaloceles, duodenal stenosis, hydrocephalus, and facial abnormalities. In the case of polymalformations, this rate was 29.2 per cent. When malformations were seen together with an amniotic fluid disorder or growth retardation, 21.5 per cent chromosomal aberrations were observed. This frequency was 10.4 per cent when growth retardation was associated with an amniotic fluid disorder. Trisomy 13, 18, 21 and monosomy X accounted for 4/5 of all abnormalities in which we observed a high rate of triploidies (4.9 per cent) and balanced (3.3 per cent) or unbalanced (9.8 per cent) non-Robertsonian structural abnormalities. Sonographic ascertainment of these aberrations and prenatal characteristics of major anomalies are discussed.