Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum.

OBJECTIVES: To assess the ability of prenatal ultrasound and magnetic resonance imaging (MRI) to diagnose isolated anomalies of the corpus callosum (ACC) and to further document the long-term prognosis following diagnosis. METHODS: This was a prospective case-control study carried out between 1999 and 2004. Diagnosis was made by a combination of ultrasound and MRI. All infants were examined by a neuropediatrician and parents consented to answer questionnaires (CDI, Ireton's Child Developmental Inventory) in 22 cases, which were matched with 44 control infants. The CDI was used to assess neurodevelopmental outcome in cases and controls. Mean DQ-CDI (development quotient calculated from CDI) values and frequencies of abnormal results were compared between groups, and a meta-analysis of previous studies was performed. RESULTS: The diagnosis of ACC was made prenatally and confirmed postnatally in 175 cases. The diagnosis was thought to be isolated ACC in 88/175 (50%) cases. Sixty of these 88 cases (68%) underwent termination of pregnancy and one died in utero. Twenty-seven were liveborn, of which 26 were followed up for a median of 50 (range, 30-74) months. Additional anomalies were diagnosed postnatally in four (15%) of these 26 neonates. The control group was significantly better (P < 0.05) compared with the cases diagnosed prenatally with isolated ACC with respect to gross motor, fine motor, language comprehension, numbers and general development, and it was marginally better for letters (P = 0.066). Seven of 26 (27%) (95% CI, 13-46%) infants with ACC over the age of 30 months had neurodevelopmental delay, compared with only one case with borderline developmental delay among the 44 controls (P = 0.006). CONCLUSION: Prenatal diagnosis of ACC by a combination of ultrasound and MRI is reliable. However, the isolated nature of the anomaly could only be assessed in 85% of our cases. Since counseling is provided at the time of prenatal diagnosis, our population of isolated ACC included the cases that were missed prenatally as being ACC with associated anomalies. A meta-analysis of nine studies suggests that the development of children diagnosed prenatally with isolated ACC is normal in up to 70% (CI 95%, 56-83%) of cases. This means that the prospective risk of neurodevelopmental delay for a fetus with ACC described as isolated prenatally is 27%, compared with 15% for an infant whose diagnosis of isolated ACC is confirmed postnatally.

Ultrasonography of the fetal brainstem: a biometric and anatomical, multioperator, cross-sectional study of 913 fetuses of 21-36 weeks of gestation.

OBJECTIVES: To establish the ultrasonographic fetal growth charts of the pons and the vermis/pons ratio on a multioperator basis in low-risk pregnancies and provide a detailed description of the anatomical and ultrasonographic criteria of normal brainstem growth. METHODS: A prospective, multicenter, multioperator, ultrasonographic study was conducted on 913 fetuses aged 21-36 weeks. The anteroposterior diameter of the pons and the greatest vermal height were measured to establish a growth chart, using a mid-sagittal plane with a posterior transfontanellar approach. The LMS semiparametric statistical method was used to construct the growth charts. Three morphological structures were also examined: the pons arch and its echostructure, the bulbo-protuberential sulcus and the primary vermal fissure. RESULTS: The anteroposterior diameter of the pons and the greatest vermal height were measured in 96.7% of cases. The anteroposterior diameter of the pons and vermis increased linearly with gestational age. The vermis/pons ratio was stable during pregnancy. CONCLUSION: We have drawn the growth charts for the pons and vermis during pregnancy and described the normal ultrasound morphology of the brainstem. Knowledge of these morphological and biometric data could facilitate early screening for pontocerebellar hypoplasia.

[Pregnancy care of visual deficient women: what specificity?]. / Prise en charge des grossesses chez les femmes aveugles ou amblyopes: quelles spécificités?

OBJECTIVES: Maternity has been denied to blind women for a long time, and is still often criticized or not understood in a very demanding social environment for the future mothers. Our objective is to describe the follow-up of the pregnancies and the childbirth of the visual handicapped women within the framework of a dedicated network of care liking with the Maternal and Infant Protection Unit and the paediatric ward. PATIENTS AND METHOD: We studied a retrospective series of 18 women blind or amblyopic followed up at the at the institut de puériculture et périnatologie (Paris, France) from 2001 to 2006. We report the social and morphological characteristics women, the characteristics of the monitoring of their pregnancy and childbirth and the approach of antenatal care. The results were compared with the data of the average French population studied in the perinatal investigation of 2003. RESULTS: The pregnancies proceeded without particular obstetrical complications and lead to the birth of 20 healthy children. The population of the women is older than the French average, of higher initial weight. There is no increase in the number of consultation and ultrasound scans. The characteristics of the follow-up are discussed. DISCUSSION AND CONCLUSION: Each maternity team should be able to follow and deliver women with a visual defect. Some specificity however needs to be helped along for these future mothers. The training of the professionals, the work within a dedicated network and the adjusting of our methodologies not only come to improve the pregnancies but also to enrich our practices.

[Outcome of fetuses with malformations discovered before 14 weeks. Where the discovery is revealed by echography during the first trimester, is it responsible for the voluntary termination of the pregnancy? Comparison before and after July 2001]. / Devenir des foetus présentant une ou plusieurs malformations découvertes avant 14 SA. Ou la découverte d'une malformation à l'échographie du premier trimestre est-elle responsable d'interruption volontaire de grossesse? Comparaison avant/après juillet 2001.

OBJECTIVES: The aims of this study were to review detection of fetal malformations during the first trimester and to study pregnancy and infant outcomes. We wanted to check if the lengthening of the legal delay for volontary termination of pregnancy changes the outcome of the pregnancy, in cases outside of the legal requirements. MATERIALS AND METHODS: This study was overseen by the french college of fetal echography (CFEF). All the cases of abnormality detected before 14 weeks' gestational age, excluding the isolated increased nuchal translucency, were extracted from the total population examined, and details were entered into the database of the French College of Fetal Echography. All case records were then analyzed. We compared two populations: before and after July 2001. RESULTS: We observed 336 fetuses with malformation(s), 108 before July 2001 and 208 after that date. One percent (0.5-1.6) of scans performed between 10 and 14 weeks revealed fetal abnormalities apart from isolated increased nuchal translucency. Of the 336 cases retained for investigation, 109 increased nuchal translucency or hygroma associated with other malformation(s), 103 central nervous system anomalies, 85 malformations of the thoracoabdominal wall, 81 limb abnormalities, 41 had renal malformations, 28 spinal abnormalities, 21 had heart malformations, 16 involved biometric abnormalities, 12 involved abnormalities of the appendages, and 11 facial abnormalities. Medical termination of pregnancy was performed in 75% of cases. Death in utero occurred in 9% of cases, 12% of infants were born alive. In 3.9% of cases, an abortion was performed. There were no differences between both populations before and after July 2001. CONCLUSION: Excluding isolated increased nuchal translucency or hygroma, malformation before 14 weeks' gestational age was detected in 1% of fetuses. The most common malformations detected in the first trimester were non-isolated increased nuchal translucency and malformations of the thoracoabdominal wall and the brain. The prognosis for fetuses with malformations detected during the first trimester was very poor as only 12% of these infants were born alive, some of them with severe malformations. In our study, and given its limitations, there were no differences between the number of voluntary terminations performed before and after July 2001.

[Abnormal placental caryotype in severe intrauterine growth retardations (IUGR). Case report]. / Place du caryotype placentaire dans l'enquête étiologique des retards de croissance intra-utérins sévères précoces. A propos d'un cas.

Except for cases due to maternal hypertension, severe and early intrauterine growth retardations are most usually due to fetal abnormalities. We report a case of confined placental homogenous tetraploidy associated with major fetal growth retardation leading to the premature delivery of a life born baby with a normal caryotype. We discuss the interest of chorionic villus sampling in cases of unexplained severe fetal growth retardation.

[A new complication of contraceptive hormonal implant: about two cases of lesions of the ulnar nerve at the arm level]. / Une nouvelle complication de l'implant hormonal contraceptif: l'atteinte du nerf ulnaire au bras. A propos de deux cas.

The authors refer 2 cases of iatrogenic lesions of the ulnar nerve at the arm level after insertion of contraceptive hormonal implants. The presence of a small under-skinned pannicula of fat on the internal side of the arm of slim women exposes the ulnar nerve during the insertion of the implant or its withdrawal. Therefore we advise the insertion of such implants on medial side of thigh in slim women. We equally recommend that withdrawal of non-tangible devices implanted on the medial side of the arm or in case of neurologic trouble, even transitory, be done by a trained microsurgeon.

[Chickenpox during pregnancy]. / La varicelle au cours de la grossesse.

Varicella during pregnancy is a rare occurrence because of a high rate of spontaneous immunisation in the population. When a pregnant woman presents a typical rash, maternal complications, mainly respiratory distress, can occur and be life threatening. Fetal complications include two types of consequences. Before 24 weeks of gestation, transplacental transmission is estimated around 6%, with about one third of infected fetuses presenting clinical manifestations. Congenital varicella syndrome includes growth retardation, neurological effects as microcephaly, limbs malposition, lung or bowel hyperechogenicity. But most infected fetuses will not show any anomaly. A very few might develop shingles in the first year of life. Peripartum contamination brings a much higher risk of transmission (around 25%). Neonatal varicella infection can be life threatening for the new born baby, especially if premature. A specific treatment should be started as soon as the contamination is discovered. Zoster during pregnancy does not lead to a risk of fetal infection.

[Ultrasonic diagnosis of chorionicity in multiple pregnancies]. / Diagnostic échographique de chorionicité dans les grossesses multiples.

The management of multiple pregnancies requires a correct diagnosis of chorionicity. This assessment is easy and reliable before 15 weeks of gestation by ultrasonography, but becomes much more difficult during the second and third trimester for same sex foetuses. From 5 to 8 weeks of gestation, the visualization of two gestational sacs assesses bichorionicity. From 8 to 14 weeks, the diagnosis of chorionicity is based on the presence of the lambda sign, completed by the evaluation of the thickness of the inter-twin membrane and the placenta localisation. From 15 weeks onward, the twin peak (or lambda) sign remains the best predictor of dichorionicity but is valuable only if it is present. The measurement of the thickness of the inter-twin membrane and the count of its layers are not available in all cases. From March 1999 to March 2000, we studied 31 multiple pregnancies with same sex foetuses, referred to our centre during the second trimester. The patients were asked for their former ultrasound reports. Chorionicity was mentioned only in 77% of the cases and when mentioned the information was correct in 85% of the cases. Thus, improving on that point is necessary. Prospective studies focusing on ultrasound determination of chorionicity show accuracy close to 100% when the ultrasonography is correctly realized before 15 weeks of gestation.

Perinatal management of fetal cardiac anomalies in a specialized obstetric-pediatrics center.

Perinatal teams dealing with fetal heart disease frequently wonder which pregnancies might be terminated, and when delivery should take place in a specialized surrounding. We present a retrospective study of 229 fetuses, in which prenatal ultrasound showed a cardiac anomaly not compatible with a standard maternity ward delivery. One hundred nineteen pregnancies were terminated (group I) while 110 pregnancies led to the birth of a live baby (group II). Pathology in group I was discovered earlier than in group II (24 vs. 29.3 weeks' gestation; p <0.01), and associated malformations or chromosomal anomalies were much more frequent in group I (80/119 vs. 9/110; p <0.001). Among live born babies, three infants with transposition of the great arteries underwent Rashkind atrioseptostomy in the delivery room. With a minimum follow-up of 12 months, 69 children (63%) have undergone surgery. Among 92 survivors (1 child is lost to follow-up), 78 (71%) are asymptomatic and 14 symptomatic. Early prenatal diagnosis of fetal heart anomalies significantly facilitates prenatal work-up and perinatal care. We present the types of pathology having led to termination and define the situations in which children are at risk of perinatal hemodynamic compromise.

[Medical termination of pregnancy for fetal anomaly: the patient's point of view]. / Interruption médicale de grossesse pour anomalie foetale. Le point de vue des patientes]

OBJECTIVES: To analyze the patient's point of view concerning pregnancy termination for fetal anomaly. METHODS: A questionnaire concerning the different steps of medical termination of pregnancy was given to 103 women on day 2 after termination. RESULTS: Most women thought that they were the ones who should make the decision (67%). Complete information prior to the procedure was greatly appreciated (81%). Physical pain remained one of the main concerns for patients given Dilapan. 94% of the women had epidural anesthesia before induction. Various mourning patterns were observed. Only 41% of the women wished to see their baby after termination; there was a correlation with age of pregnancy and social environment. Psychological assistance involved the entire team and a consultation with a pedopsychiatrist (81%). The most painful moment was the moment when breaking the new of the fetal anomaly. CONCLUSION: The women were very much in need of expressing their sorrow very soon after the event. Team work and lack of rigidity in care taking enhances the expression of individual resources, both by the medical team and the patients. Three points were highlighted by the patients.--the desire to participate in the decision making;--the importance of in-depth information on technical aspects of the procedure;--initial new breaking is recognized as a major trauma.

[Intrahepatic arteriovenous fistula. Prenatal diagnosis, physiopathological study and neonatal management]l. / Fistule artério-veineuse intrahépatique. Diagnostic anténatal, étude physiopathologique et prise en charge néonatale.

A case of arteriovenous fistula of the liver diagnosed at 30 weeks of gestation is reported. The etiologies of an hypoechogenic structure in the fetal liver are discussed showing the contribution of pulsed wave Doppler and color Doppler to the diagnosis. The clinical evolution towards heart failure led us to examine the pathophysiology of such a lesion. The prenatal management of this arteriovenous malformation is exposed.

Prenatal diagnosis of fetal varicella-zoster virus infection with polymerase chain reaction of amniotic fluid in 107 cases.

OBJECTIVE: Varicella, resulting from primary infection by varicella zoster virus, carries a risk of severe congenital varicella. Prenatal diagnosis is rarely applied because methods remain to be validated. STUDY DESIGN: From 1989 to 1994, 107 women contracted clinical varicella before 24 weeks of pregnancy. Amniocentesis was performed in all cases, with simultaneous fetal blood sampling in 82 cases. Virus was detected in amniotic fluid by cell culture inoculation and polymerase chain reaction. Fetal blood was tested for anti-varicella zoster virus immunoglobulin M. RESULTS: Of the 107 amniotic fluid samples tested, nine of 107 (8.4%) were positive by polymerase chain reaction, but only two of these (1.8%) were positive in cell culture; none of the blood samples from infected fetuses were positive for specific anti-varicella zoster virus immunoglobulin M. The outcome of 99 pregnancies was fully documented. CONCLUSION: The risk of transplacental passage before 24 weeks of pregnancy was 8.4% in our series. The risk of congenital varicella is 3 in 107 (2.8%) and that of isolated postnatal varicella zoster infection is 3 in 78 (3.8%). Polymerase chain reaction is more sensitive than cell culture for the detection of varicella zoster virus in amniotic fluid.

Fetal serum interferon-alpha suggests viral infection as the aetiology of unexplained lateral cerebral ventriculomegaly.

We assayed fetal serum interferon-alpha (IFNA), a cytokine produced by leukocytes as a response to viral infection, in a series of 59 consecutive cases of ventriculomegaly diagnosed in utero and in 89 controls. Results were correlated with other findings including karyotype, maternal-fetal screening for serum antibodies to specific infectious pathogens, viral cultures of amniotic fluid, and neuropathological examination or postnatal follow-up. Fetal serum IFNA assay was negative in the five ventriculomegalies associated with a genetic anomaly and positive in the three cases with documented cytomegalovirus infections. In addition, fetal serum IFNA was detected significantly more often in the cases of ventriculomegaly with unexplained pathogenesis (15/51, 29.4 per cent) than in controls (1/89, 1.1 per cent). Detection of IFNA suggestive of viral infection in fetuses with otherwise unexplained ventriculomegaly underscores the need for more extensive viral screening in such cases.

Fetal gammaglutamyl transferase activity: clinical implication in fetal medicine.

In a retrospective study of 3,129 fetal blood samples, we first determined normal values for gammaglutamyl transferase (GGT) activity and found 33 cases with a mean GGT level of 961.8 U/l (prevalence 1.05%) corresponding to more than 10-fold normal values. In such extreme cases, elevations of GGT activity in fetal blood have been poorly studied. The goal of this work was to correlate this highly abnormal biological finding with pathological fetal conditions and try to better understand the pathophysiological mechanisms. The most frequent underlying disorders were infections (n = 11), renal or bowel malformations (n = 12) and genetic abnormalities (n = 5). Two cases of cystic fibrosis and one case of fetal alcohol syndrome were also encountered. In another 2 cases, no explanation was found.

Prenatal MRI diagnosis of fetal cerebral tuberous sclerosis.

Tuberous sclerosis (TS) is an autosomal dominant phakomatosis. A high percentage of spontaneous mutations leads to the diagnosis of new cases in normal families. This diagnosis is suspected at antenatal ultrasound on the discovery of multiple cardiac tumors. Antenatal cerebral ultrasound shows a normal appearance in affected fetuses. Eight fetuses with multiple cardiac tumors were studied with antenatal MRI with, in five cases, an abnormal appearance showing hyperintense subependymal and cortical nodules on T1-weighted images. Among the three remaining patients MRI was non-contributive in one due to movement artefact, one had abnormal postnatal MRI consistent with TS and one had a normal postnatal and clinical examination. We conclude that MRI is a valuable tool in making the diagnosis of TS in fetuses with multiple cardiac tumors.

Prenatal diagnosis of tuberous sclerosis. Use of magnetic resonance imaging and its implications for prognosis.

Tuberous sclerosis (TS) is an autosomal dominant disorder with a high rate of de novo mutation. The real difficulty is to ascertain the diagnosis and to give the neurological prognosis in each case. Prenatal diagnosis of TS is generally based on ultrasonographic signs of multiple cardiac tumours, i.e. rhabdomyomas. Recent progress in magnetic resonance imaging (MRI) enables the diagnosis in a large proportion of cases based on typical brain lesions. It may have a role in the prenatal management of TS, although MRI images seem to underestimate the anatomical findings. Two cases in which TS was diagnosed prenatally are presented with reference to the value of MRI in the prenatal management and comparison with anatomical findings.

[RU 486 and sulprostone in pregnancy termination in the 2nd and 3rd trimesters]. / RU 486 et sulprostone dans le cadre des interruptions médicales de la grossesse aux 2e et 3e trimestres.

OBJECTIVE: Describe our experience with the RU 486 (mifepristone) in case of pregnancy termination induced by sulprostone. METHOD: Prospective non controlled study in the department of Fetal Medicine of the "Institut de Puériculture de Paris". 158 women undergoing termination of pregnancy during the second and third trimester received a single dose of 600 mg of RU 486, 36 hours prior to infusion of 100 micrograms/hour of sulprostone. MAIN OUTCOME MEASURES: Delay between sulprostone therapy and diagnosis of labour duration of delivery. Prostaglandin doses used and frequency of secondary effects. RESULTS: The mean time between sulprostone administration and diagnosis of labour (146.5 +/- 106 minutes) as well delay of delivery (592.2 +/- 504 minutes) corresponded to the results reported in the literature. The primigravid women needed higher doses of prostaglandin and consequently experienced more secondary effects. No severe secondary effects were observed in this study. CONCLUSION: RU 486 is a satisfactory treatment for pregnancy termination during the second or third trimester.