Down's syndrome screening with nuchal translucency at 12(+0)-14(+0) weeks and maternal serum markers at 14(+1)-17(+0) weeks: a prospective study.

BACKGROUND: Sonographic and biochemical methods for Down's syndrome screening have developed simultaneously, but independently. As a consequence, the rate of invasive procedures for fetal karyotyping has dramatically increased and become an important public health issue which needs to be controlled. One approach is to combine sonographic and biochemical results into a single risk assessment. METHODS: In a multicentre interventional study, nuchal translucency (NT) was measured between 12(+0) and 14(+0) weeks of gestation. Maternal serum markers (MSM) were measured between 14(+1) and 17(+0) weeks of gestation. Karyotyping was advised when: (i) NT was > or =3 mm; or (ii) the MSM-related risk was > or =1 in 250 at term. Karyotyping was delayed until after a maternal blood sample had been taken. NT and MSM were expressed as multiples of the medians (MoMs), and risks were calculated and tailored to the study population. A combined risk for NT and MSM was estimated retrospectively. Costs per case diagnosed, and the cost per case averted were calculated for the three screening strategies. RESULTS: A total of 9444 women was screened. Twenty-one fetuses (0.22%) had Down's syndrome, whilst 326 women (3.4%) were lost to follow-up. Among 9118 women followed up, 5506 had both NT and MSM, 821 had only NT, and 2791 had only MSM. Median maternal age was 30.5 years. False-positive rates for NT, MSM and NT combined with MSM were 3.0, 5.8 and 0.23% respectively. The false-positive rate generated by a sequential two-stage screening was 8.6%. Detection rates of Down's syndrome were 62 and 55% for NT and MSM respectively. Seven cases with Down's syndrome (35%) had raised NT and MSM, and 17 (81%) had either raised NT, MSM, or both. For a 5% false-positive rate, detection rates were 55 and 80% for NT alone and for combined NT and MSM respectively. Ultrasound alone appears to be more cost-effective ( pound50 per case diagnosed) than both tests ( pound61 per case diagnosed). CONCLUSIONS: The study results suggest a 25% increase in the detection rate of Down's syndrome using a combination of NT measurement at 12(+0)-14(+0) weeks and MSM at 14(+1)-17(+0) weeks for a 5% false-positive rate, with modest increase in cost.

[Negative effects of maternal smoking during the course of pregnancy]. / Effets délétères du tabagisme maternel au cours de la grossesse.

Maternal smoking during pregnancy has many consequences, manifesting prior to, during and after pregnancy, mainly: fertility difficulties; obstetrical accidents such as extrauterine pregnancy, premature labour and early placenta detachment; intrauterine growth retardation; increased perinatal morbidity; increased susceptibility to respiratory diseases in infancy and childhood; increased rate of sudden infant death; and alteration of cognitive development and behavioral disorder in childhood. Postnatal smoke exposure increases the respiratory complications in infancy and childhood. Considering the severity of these deleterious effects, the development of a large preventive policy appears necessary.

Use of the Kleihauer test to detect fetal erythroblasts in the maternal circulation.

Non-invasive prenatal diagnosis of aneuploidies on fetal nucleated erythrocytes present in the maternal circulation is hampered by the extremely small cell number of uncertain origin (70% of erythroblasts circulating during pregnancy have a maternal origin). Therefore, a method allowing selection of the fetal cells among the maternal cells is indispensable after the erythroblast enrichment step. In the present study, after an erythroblast enrichment step on a ficoll gradient followed by a positive immuno-magnetic selection with anti-CD71 or anti-GPA antibodies, a rapid, simple and direct chemical staining method adapted from the classical Kleihauer test was developed to select fetal cells. Precise differentiation between fetal and maternal erythroblasts is based on the constitutional difference between fetal and adult haemoglobin (Hb). The fetal cells appear with an intense pink cytoplasmic staining while maternal cells with adult haemoglobin are colourless. Preservation of the cytoplasmic integrity allows one to distinguish morphological characteristics and to visualize simultaneously nuclear hybridization signal by FISH (fluorescent in situ hybridization). This approach was tested by FISH analysis using dual-colour X- and Y-specific DNA probes on blood samples from 15 pregnant women, with the results being compared to cytogenetic or sonographic sex determination. For 12 pregnancies fetal sex was determined successfully (5 XY/7 XX), in two cases in situ hybridization failed, and in one case no fetal erythroblast was observed after the Kleihauer test. The selection method was applied to a pregnancy at risk for cystic fibrosis (CF). After a Kleihauer test, fetal erythroblasts were collected by microdissection, whole genomic DNA was amplified by primer extension pre-amplification (PEP) followed by a nested CF PCR. The fetal genotype was successfully characterized and confirmed by conventional prenatal diagnosis.

[Successful thrombolysis on an aortic valve prosthesis by plasminogen tissue activator during pregnancy]. / Thrombolyse réussie d'une thrombose de prothèse aortique par activateur tissulaire du plasminogène durant la grossesse. A propos d'un cas.

The authors report the case of a 28 year old woman admitted as an emergency at 15 weeks' amenorrhea for malaise with transient aphasia and orthopnoea due to massive thrombosis of a St Jude aortic valve prosthesis implanted two years previously. This complication occurred after relay of oral anticoagulants with subcutaneous heparin therapy. After a medico-surgical and obstetrical discussion, the indication for thrombolytic therapy with 50 mg of rt-PA over two hours was decided with an excellent clinical and echocardiographic, immediate and lasting result, without any maternal or foetal complication. This enabled pregnancy to be continued to term under oral anti-coagulant therapy. Caesarean section was performed at 8 months leading to the birth of a healthy child. Echocardiographic and radioscopic parameters in the post-partum period showed good prosthetic valve function with no indication for reoperation. This case is original by the absence of neurological and obstetrical complications of thrombolysis, the continuation of pregnancy to term and complete lysis of the thrombus without replacement of the valvular prosthesis.

[Expulsion of arrested pregnancy product in the 2d trimester using a prostaglandin E1 analog administered intravaginally. Apropos of 12 cases]. / Expulsion de grossesses arrêtées au deuxiéme trimestre à l'aide d'un analogue de la prostaglandine E1 appliqué par voie vaginale. A propos de douze cas.

In this paper the authors report on the use of a prostaglandin E1 analog to expel fetuses stillborn in utero in the second trimester of pregnancy. Results of this clinical series make it possible to conclude on the efficacy of this agent and its simple utilization. Minor inconsequential side-effect observed coincide with the total absence of any complications.

[Clinical aspects of pregnancy in the sportswoman]. / Aspects cliniques de la grossesse chez la femme sportive.

The authors establish a bibliographical synthesis of the clinical aspects of pregnancy in the woman athlete. They study the clinical repercussions of sports on the pregnant woman and the fetus. They consider successively pregnancy, delivery and the post-partum period.

[Total vulvectomy with lasers. An interesting technic]. / Vulvectomie totale par laser. Une technique intéressante.

The authors describe a case of total vulvectomy without inguinal clearance using a CO2 laser for a micro-invasive epidermoid carcinoma. They agree with most that has been published in the literature and show that lasers can be used successfully for removal and coagulation in this type of operation. The authors show how well the patient did after the operation and they believe that this rapid recovery was due to the technique that was used.