[Molecular biology usefulness for rapid diagnosis of Down's syndrome and common aneuploidies]. / Intérêt de la biologie moléculaire dans le diagnostic rapide de la trisomie 21 et des aneuploïdies les plus fréquentes.

OBJECTIVE: Trisomy of chromosome 13, 18, 21 and sex chromosome aneuploidies are the most common chromosomal abnormalities encountered in prenatal screening and are responsible for polymaformative syndrome associated with severe mental retardation. This high degree of morbidity justifies the prenatal diagnosis of these aneuploidies. Fetal nuchal translucency measurement and maternal serum biochemical marker assessment are the method of choice used for antenatal screening of aneuploidies. This prenatal screening leads to numerous maternal samplings followed by karyotyping which is cost-effective, time consuming, while results are generally returned between 2 and 3 weeks. Our study describes the research of common aneuploidies by molecular biology. We have used on one hand the MLPA kit (MRC Holland) based on amplification of specific DNA probes that hybridize with chromosomes 13, 18, 21, X, Y. On the other hand we have developed multiplex fluorescent PCR, amplifying microsatellite DNA sequences. PATIENTS AND METHODS: We have evaluated the efficiency of these two techniques to detect chromosomal abnormalities by screening 400 amniotic fluids or chorionic villi samples obtained from pregnant women presenting a high risk of chromosomal aneuploidy. RESULTS: We have found four trisomies 21, one trisomy 13, one monosomy 13, one trisomy 18, two triploidies, one trisomy X and one Klinefelter syndrome. DISCUSSION AND CONCLUSION: In our study we have detected by molecular biology, in less than 48 h, 100% of common chromosomal aneuploidies without false positive or false negative results which could lead molecular biology as a method of choice for the rapid detection of common aneuploidies in addition to fetal karyotyping.

[Assessment of patients' knowledge of first-trimester combined Down syndrome screening at the time of their first trimester ultrasonographic evaluation: Results of a prospective study about 201 women]. / Évaluation des connaissances des patientes concernant le dépistage de la trisomie 21 lors de l'échographie du premier trimestre : résultats d'un sondage prospectif sur un échantillon de 201 femmes.

OBJECTIVE: Assess pregnant women's knowledge on first-trimester combined Down syndrome screening, at the time of their first trimester ultrasound scan. MATERIALS AND METHODS: A questionnaire was submitted to the patients coming for their 12-week pregnancy ultrasonographic evaluation in a University Hospital prenatal clinic between May 2012 and May 2013. Correct and incorrect statements on Down syndrome screening were proposed to the mothers who were asked to rate them. Each patient was questioned on her prior exposition to Down syndrome screening, the category of medical of professional she previously consulted, and the information she received. Patients' knowledge was evaluated according to these criteria. RESULTS: Two hundred and one patients were included in this study. The average correct answer rating was 4.6 (out of 8 questions). The average incorrect answer rating was 2.4 (out of 6 questions). No difference was found between the different social and demographic groups, nor according to the category of professional consulted before the first ultrasound scan. Higher correct answer ratings were observed when the patient had already been submitted to a Down syndrome screening (P=0.039), when they had previously received explanations about the screening (P=0.003); and when they stated that they had been sufficiently informed (P=0.042). CONCLUSION: These results show that patients' knowledge on Down syndrome screening is inadequate and depends on their experience of previous screening and information. It is deemed necessary to improve information especially to young women who are pregnant for the first time.

[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review]. / Syndrome de Pallister-Killian : confrontation des données prénatales et fœtopathologiques de six cas et revue de la littérature.

OBJECTIVE: In multidisciplinary prenatal diagnosis centers, the search for a tetrasomy 12p mosaic is requested following the discovery of a diaphragmatic hernia in the antenatal period. Thus, the series of Pallister Killian syndromes (PKS: OMIM 601803) probably overestimate the prevalence of diaphragmatic hernia in this syndrome to the detriment of other morphological abnormalities. METHODS: A multicenter retrospective study was conducted with search for assistance from members of the French society for Fetal Pathology. For each identified case, we collected all antenatal and postnatal data. Antenatal data were compared with data from the clinicopathological examination to assess the adequacy of sonographic signs of PKS. A review of the literature on antenatal morphological anomalies in case of PKS completed the study. RESULTS: Ten cases were referred to us: 7 had cytogenetic confirmation and 6 had ultrasound screening. In the prenatal as well as post mortem period, the most common sign is facial dysmorphism (5 cases/6). A malformation of limbs is reported in half of the cases (3 out of 6). Ultrasound examination detected craniofacial dysmorphism in 5 cases out of 6. We found 1 case of left diaphragmatic hernia. Our results are in agreement with the malformation spectrum described in the literature. CONCLUSION: Some malformation associations could evoke a SPK without classical diaphragmatic hernia.

[Performance of prenatal diagnosis and postnatal development of congenital lung malformations]. / Performance du diagnostic anténatal et évolution postnatale des malformations pulmonaires congénitales.

OBJECTIVES: For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). METHODS: This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. RESULTS: Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. CONCLUSION: Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive surgery probably reduces the occurrence of emergency surgery.

Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.

We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.

Splenogonadal fusion limb defect syndrome: report of five new cases and review.

Splenogonadal fusion (SGF) is a rare congenital malformation in which the spleen is abnormally connected to the gonad. SGF may occur as an isolated condition or may be associated with other malformations, especially with terminal limb defects in what is called splenogonadal fusion limb defect (SGFLD) syndrome. In this article, we report on 5 new cases of SGFLD and we review the 25 cases reported since 1889. Most cases reviewed here have a combination of severe limb and oro-mandibular defects, suggesting that SGFLD may be related to the broader group of Hanhart complex. In addition, several cases have limb malformations and facial anomalies, which suggest that SGFLD overlaps with both femur-fibula-ulna dysostosis and femoral-facial syndrome. The hypothesis of a vascular disruptive event, occurring between the 5th and the 7th weeks of gestation, could explain the limb defects, the mandibular hypoplasia, and the fusion of the spleen to the gonad observed in SGFLD. However, this heterogenous and polytopic condition could also be the consequence of a primary field defect. All the cases to date reported have been sporadic and the recurrence risk is probably low. However, a recent case of Roberts syndrome with SGF was reported that suggests careful examination of chromosomal status.

[Occlusion of the middle cerebral artery after induction of ovulation with gonadotropins]. / Occlusion de l'artère cérébrale moyenne lors d'une induction de l'ovulation par les gonadotrophines.

A case of occlusion of the middle cerebral artery during a treatment with gonadotropin is reported. Such cases are unusual when one considers that these treatments are widely used. They occur after a markek ovarian hyperstimulation syndrome. Treatment is purely preventive with clinical, laboratory and ultrasonic examinations before injection of beta-HCG.

[Materno-fetal infection by Chlamydia psittaci transmitted by the goat: a new zoonosis?]. / Infection materno-foetale par Chlamydia psittaci transmise par la chèvre: une nouvelle zoonose?

A case report is given of spontaneous abortion at 32 weeks brought about by Chlamydia psittaci following contact with a herd of goats. Severe symptoms were observed post-natally in this woman. Nine cases of materno-foetal infection with this pathogen are known, however, the source of infection is usually ewes suffering abortive chlamydiosis. Goats may also be infected, but caprine origin for the disease in pregnant women has not been reported previously.

[Post-natal diagnostic strategy of urinary tract malformations detected by prenatal screening]. / Stratégie diagnostique postnatale des uropathies malformatives dépistées avant la naissance.

BACKGROUND: The increasing experience with prenatal ultrasonographic diagnosis allows detection of more and more mild urinary tract anomalies. Thus, the clinical significance of many pyelectasis detected before birth is not known. PATIENTS AND METHODS: From a retrospective study of 78 patients, we determined the positive predictive value (PPV) of prenatal ultrasound findings for urinary tract malformations. RESULTS: This PPV was 27.3% when the prenatal pelvic dilatation was isolated, but grew up to 100% if a caliceal dilatation was associated. Renal pelvic diameter in the third trimester of pregnancy could predict the degree of post-natal renal impairment, as pelvic size was 6.7 +/- 2.15 mm for the post-natal pyelectasis group, significatively smaller than 13.4 +/- 3 mm in the ureteropelvic junction obstruction group (grade 1) and than 17 +/- 9 mm in other pathological renal units. On the other hand, antenatal ultrasound had a bad sensibility for vesico-ureteral reflux detection, four primary reflux among 14 being detected without homolateral antenatal ultrasound anomaly. CONCLUSION: According these results, we propose a post-natal diagnostic strategy. Urological explorations are performed when the prenatal renal pelvic diameter is larger than 10 mm. If the postnatal ultrasound shows an isolated pyelectasis below this level, a clinical follow-up is advised, the parents being informed of the possibility of vesico-ureteral reflux and of the necessity to perform a cytobacteriological exam of urines in case of unexplained fever.

[Comparison of blood loss during cesarean section and during vaginal delivery with episiotomy]. / Comparaison des déperditions sanguines lors des césariennes et lors des accouchements par voie basse avec épisiotomie.

OBJECTIVE: The aim of our study was to compare blood loss during vaginal delivery with episiotomy and during cesarean section, to determine risk factors, and to determine whether clinical assessment of blood loss at delivery is well-evaluated. PATIENTS AND METHODS: We retrospectively matched 97 vaginal deliveries with episiotomy with 97 cesarean deliveries which has occurred between 1 November 1991 and 30 April 1993. Matching criteria were age, parity, term and birth weight. Blood loss at delivery was defined by a drop in hematocrit greater than 10% between the pre-delivery anesthesia work-up and the laboratory results 3 days post-partum. RESULTS: We found that hemoglobin and hematocrit fell more after vaginal deliveries than after cesarean section (p < 0.05 and p < 0.01). The fall in hemoglobin level and hematocrit were significantly greater after forceps delivery with episiotomy than after spontaneous vaginal delivery (p < 0.01 and p < 0.01). Among the vaginal deliveries, 11 showed laboratory criteria corresponding to blood loss at delivery despite clinical diagnosis in only 2 of them. Unwarranted clinical diagnosis of blood loss at delivery was however made 11 times after vaginal delivery and 19 times after cesarean (20%). CONCLUSION: Our findings demonstrate that blood loss during vaginal delivery with episiotomy is greater than during cesarean section and affirms the determining role of forceps use in association with episiotomy in this blood loss. Clinical assessment of blood loss at delivery lacks precision.

[Marfan's disease and pregnancy. Apropos of a case]. / Maladie de Marfan et grossesse. A propos d'un cas.

Marfan's syndrome is a dominant autosome transmitted disease with different degrees of seriousness. When it is associated with pregnancy there is a considerable increase in the rate of cardio-vascular complications which are responsible for a serious rate of maternal mortality due to aortic dissection. It is therefore very important that the patient, before starting a pregnancy, should be examined very carefully clinically and with ultrasound. A woman with dilatation of the aorta less then 40 mm as measured ultrasonically and who has no major clinical signs can start a pregnancy but even then she should be considered as a high risk case. In other cases therapeutic termination of pregnancy or prophylactic surgical treatment of the condition should be considered. Apart from the serious genetic risks (50%) the risks for the fetus are dominated by prematurity and by fetal death resulting from maternal death.

[Choledochal cysts. A rare prenatal diagnosis]. / Le kyste du cholédoque. Un diagnostic anténatal rare.

Forty to sixty percent of main bile duct cysts are diagnosed before the age of 10 years, often at the time of a complication. Current progress in echography now makes it possible to diagnose such cysts antenatally. Wze report a case discovered at 33 gestation and focus on the difficulty of formal antenatal diagnosis and the unpredictable, sometimes rapid, course of the disease. The main prognosis factor is the development of complications, especially liver fibrosis. Antenatal suspicion of main bile duct cyst is important as they can then be managed early after echographic confirmation during the first days of life with the potential reduction in severe complications.

[Human parvovirus B19 infection during pregnancy. 2 cases]. / L'infection à parvovirus B19 au cours de la grossesse. A propos de deux observations.

We report two cases of non immunologic hydrops fetalis associated with intra-uterine human parvovirus B19 (PV B19) infection. The outcome was stillbirth in both cases. Infection by PV B19 was suspected by the presence of intranuclear inclusions in fetal erythroblasts. It was confirmed by the presence of specific immunoglobulins M (IgM) against PV B19 in maternal sera. Intra-uterine infection with human PV B19 is known since 1984; this virus may cause non immunologic hydrops fetalis and stillbirth; teratogenic effects have also been suggested. Epidemiological studies, published in 1988 and 1990 have evaluated the risk of PV B19 fetal related death at 9% and no association was found between infection and congenital anomalies. Subsequent management of infected pregnancies is studied. We emphasize the interest of pathological examination of hydropic stillbirth for this diagnosis.

[Familial cancer of the ovary. A family with 6 index cases]. / Cancer familial de l'ovaire. A propos d'une famille regroupant 6 cas index.

Greggi and Kerlikowske have worked out that a woman has a 1.4% chance of developing ovarian cancer during her life. When cancer of the ovary is found, 5 to 10% of these cases have a familial form of this pathology. Thus there are some hereditary forms of cancer of the ovary and Lynch has demonstrated that there are three types of hereditary associations with ovarian neoplastic pathology: specific familial cancer of the ovary, cancer of the ovary associated with endometrial cancer and with non-polypoidal cancer of the caecum and rectum, cancer of the ovary associated with cancer of the breast. The clinical material we are presenting here is of the first type of association and we are reporting the study of a family in which 6 members in two generations had cancer of the ovary and of whom one had cancer of the breast as well. Familial cancer of the ovary shows different characteristics coming on as it does earlier (ten years earlier) and with a shorter length of survival (1.8 as against 5 years). The risk of the next generation having ovarian neoplastic pathology is clear because there is a 50% chance in a patient who has a history of cancer of the ovary in at least two first degree relatives. For most daughters when this type of familial cancer is found it is justifiable to carry out prophylactic oophorectomy from the age of 35 year onwards. Particular supervision should be carried out for patients who are members of a family where 2 index cases have been found within 20-35 years.(ABSTRACT TRUNCATED AT 250 WORDS)

[Intravenous urography in pregnancy and the risks of fetal hypothyroidism]. / Urographie intraveineuse pendant la grossesse et risques d'hypothyroïdie foetale.

The authors approach the question of the risk of fetal and neonatal hypothyroidism when intravenous pyelography is carried out in the pregnant woman. They looked at a continuous series of 15 cases in 7 years, of which 8 were studied retrospectively and 7 prospectively. They did not find any clinical or biological signs of hypothyroidism when the children were from 10 months to 9 years of age at review. The authors approached the reaction of the fetal thyroid to this excess dose of iodine considering what is known about the physiology of this gland in utero and the publications concerning hypothyroidism occurring after prolonged administration of iodine or amniofetography. They conclude that there is probably a temporary disturbance of fetal thyroid function but it does not continue into the neonatal period. All the same, caution is advocated because intravenous urography during pregnancy should be carried out only for very tight indications and the newborn should be carefully examined.

Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.

We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops fetalis and also stress that minimal and precocious echographic signs can be suggestive of such a lysosomal storage disease.