Prenatal ultrasound abnormalities in a patient with generalized neurofibromatosis type 1.

We describe a patient with an unusual neonatal disseminated form of neurofibromatosis (NF1). Prenatal ultrasound studies, at 35 weeks of gestation, revealed ambiguous external genitalia, an increased biparietal diameter and a decreased growth of long bones. Postnatal examination displayed generalized neurofibromatosis, with perineal, thoracic and spinal cord invasion by tumors. Spinal cord compression was responsible for paraparesis. The child died of a pulmonary infection at five years of age. No previous report of such prenatal abnormalities has been described. Genetic counselling is difficult because of the variable expression of the illness.

[The value of early morphologic ultrasonography for the detection of chromosome anomalies]. / Intérêt de l'échographie morphologique précoce pour la détection des anomalies chromosomiques.

OBJECTIVES: To demonstrate the benefit, in terms of improved antenatal screening, in particular for 21-trisomy, to be expected from the introduction of routine vaginal morphologic echography during the first trimester of pregnancy. This work was conducted by the Department of Gynaecology-Obstetrics of the French Red Cross Teaching Hospital in Bois-Guillaume, France. SUBJECT: Over a 20 month period, 307 consultating women underwent routine endovaginal echography between the 10th and 13th week of amenorrhoea. The exploration was proposed to detect small retrocervical hydromas as a signal for further cytogenetic tests. RESULTS: Five hygromas were discovered and led to the diagnosis of 4 cases of 21-trisomy, the fifth pregnancy ended with spontaneous abortion. The 12th week appeared as the most favourable time for routine examination. CONCLUSIONS: This non-invasive method, routinely performed in all women, improves the yield of screening for 21-trisomy and allows a better means of indicating cytogenetic tests.

[Doppler and reduction of perinatal mortality]. / Döppler et réduction de la mortalité périnatale.

The authors think that perinatal mortality can be substantially reduced by accurate evaluation of chronic fetal distress by means of ultrasonic biometry routinely applied to pregnant women at each consultation and a Doppler examination carried out whenever retardation is detected or in any abnormal situations which could lead to such retardation. The authors present their experience in 353 women followed-up in their Service.

[Treatment of arterial hypertension in the pregnant woman with labetalol. A propos of 24 cases]. / Traitement de l'HTA chez la femme enceinte par le labétalol. A propos de 24 cas.

Beta blockers are now widely used to treat hypertension during pregnancy. The authors give their experience of 24 cases with Labetalol which is an alpha and beta blocker. A comparative study of the results obtained in mother and child, with other publications using beta-blockers or Labetalol, was carried out.

[Polysyndactyly with complex cardiopathy. Apropos of 3 cases in the same family]. / Polysyndactylie avec cardiopathie complexe. A propos de trois cas dans une même fratrie.

This study deals with a family where three successive children presenting with a complicated polymalformative syndrome, died. The first child, a boy, had atrial and ventricular septal defect. The second and third children, both females, had cardiac abnormalities with a single ventricle with common auriculo-ventricular valve. Each case was associated with low ear insertion and first toe bilateral polysyndactyly. Familial inquiry showed neither consanguinity nor similar cases in relatives and ancestors within three generations. This polymalformative syndrome could be genetically determined.

Beta blocker therapy in 125 cases of hypertension during pregnancy.

Over a period of 4 years, a team of obstetricians and nephrologists have used beta-blockers in the treatment of hypertension in high risk pregnancies. One hundred and twenty one patients (125 pregnancies) were treated with this new therapeutic approach: Acebutolol (56 cases), Pindolol (38 cases) and Atenolol (31 cases) were used. In our group of patients, 56% (70/121) had a previous record of hypertension. Treatment was started when diastolic pressure reached 90 mmHg. The mothers showed excellent tolerance and in 95% of cases blood pressure was controlled in a satisfactory manner. Three groups of new-born infants were defined. In 20 infants, the weight was less than 2.5, in 15 infants between 2.5 and 2.8 kg, and in 90 infants more than 2.8 kg. There was no evidence of low Apgar scores, bradycardia or hypotension in the infants. The importance of team management of the patient is emphasised.

[Treatment of hypertension in pregnant women with beta-blockers. 60 cases (author's transl)]. / Traitement par bêta-bloquants de l'hypertension de la femme enceinte. 60 observations.

Fifty-nine hypertensive women were treated with beta-blockers during 60 pregnancies. Acebutolol was used in 28 cases, pindolol in 21, atenolol in 10 and propanolol in one. Concomitant administration of dihydralazine was required in 6 cases. In 6 women beta-blockade was started before, and continued throughout pregnancy. Treatment was initiated after the 13th week of gestation in the majority of patients and before the 12th week in two. Twenty women were known to have hypertension long before they became pregnant, and renal disorders were diagnosed in seven. Satisfactory control of blood pressure, with values below 140-90 mmHg, was achieved in 55 cases, and in the same number of cases delivery occurred after 38th week. No clinical or biological side-effects were observed in either mothers or infants. The birth weight was superior to 2500 g in 51 children, including 37 who weighed more than 3000 g. There was only one death in utero. One child born at 35 weeks with multiple malformations and another with meconium ileus also died. Beta-blockers may therefore be safely used to treat most cases of hypertension during pregnancy, provided close supervision is exerted throughout the gestation period.