Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis.

Arthrogryposis describes the presence of multiple joint-contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative transmembrane protein of the ER-Golgi interface.

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects.

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.

We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at 13(5/7) weeks) was performed following ultrasound signs of hydrops and cystic hygroma in twin 1 (T1). Prenatal karyotype showed non-mosaic trisomy 21 in T1 (47,XX,+21[7]), and low-grade mosaic trisomy 21 in twin 2 (T2) (47,XX,+21[2]/46,XX[19]).

Congenital lingual cysts.

Congenital lingual cysts are rare congenital tumors of the oropharynx, which should be suspected when the tongue appears enlarged by a mass. Prenatal diagnosis by ultrasound allows for an optimal management at the time of delivery because the mass can obstruct the airways. Unless the cyst enlarges and hinders feeding or breathing, surgical treatment is indicated only a few months after birth because spontaneous regression can sometimes be observed.

First trimester screening for trisomy 21; Do the parameters used detect more pathologies than just Down syndrome?

Objective: To assess the value of first trimester maternal serum free beta human chorionic gonadotropin (beta hCG), pregnancy-associated plasma protein (PAPP-A) concentrations and nuchal translucency (NT) as predictors of pregnancy complications.

Design: A retrospective collaborative study of beta hCG, PAPP-A and NT between 10 and 14 weeks of pregnancy in patients in whom pregnancy was followed to term. Nuchal translucency, maternal serum PAPP-A and free beta hCG concentrations were measured in 1779 women with singleton pregnancies and without aneuploidies.

Reliability of the Bishop score before labour induction at term.

Objective: To evaluate the agreement within three pairs of observers regarding the Bishop score and an informal global evaluation of the cervix (favourable/unfavourable).

Study Design: We conducted a reliability study of the Bishop score. Three pairs of examiners (A-B, A-C and D-E) performed independently a cervical examination in 156 term pregnant women admitted for labour induction.

Pregnancy outcome of 30 fetuses with cystic hygroma diagnosed during the first 15 weeks of gestation.

The goal of the study was to assess the prognostic value of ultrasound finding of fetal cystic hygromas. Thirty cases of septated cystic hygromas were diagnosed at 10-15 weeks gestation by transabdominal ultrasound and followed through pregnancy. The rate of abnormal karyotype was found to be 61% and the global rate of unfavorable outcome, independently of karyotype result, as high as 96%.

Crohn's disease as a risk factor for the outcome of pregnancy.

Background/aims: To study the effects of Crohn's disease on the course of pregnancy and the influence of pregnancy on the activity of Crohn's disease.

Methodology: The course of 35 pregnancies in 23 women with Crohn's disease were reviewed over a 12 years period.

Results: Nine pregnancies (25%) started when Crohn's disease was active.

Fetal echocardiography in pregnancies of women with congenital heart disease--clinical utility and limitations.

Unlabelled: Women with important cyanotic or uncyanotic, operated or unoperated congenital heart disease (CHD) have been shown to carry an inherent risk during pregnancy for themselves and for their fetus. Obstetrical and fetal echocardiography has recently been upgraded by new technical developments in ultrasound machines. These improvements have increased the detection rate of congenital malformations and cardiac anomalies which ranged in the past between 4 and 60% for significant anomalies.

Platelet count at term pregnancy: a reappraisal of the threshold.

Objective: To assess the safety of a new platelet count threshold for the definition of maternal thrombocytopenia late in pregnancy.

Methods: A platelet count was performed in 6770 pregnant women late in pregnancy and in 6103 of their newborns as well as in a control group of 287 age-matched nonpregnant healthy women.

Results: The prevalence of maternal thrombocytopenia (platelet count less than 150 x 10(9)/L) was 11.

[Pregnancy and scuba diving: what precautions?].

Scuba diving is a leisure activity increasingly popular amongst women. Many women are concerned about the risks associated with diving and a known or planned pregnancy. In order to advise these young women, we have reviewed the literature concerning women and diving as well as animal studies on the subject.

Maternal antiplatelet antibodies in predicting risk of neonatal thrombocytopenia.

Objective: To determine the incidence of maternal antiplatelet antibodies in cases of thrombocytopenia during pregnancy, using the monoclonal antibody-specific immobilization of platelet antigens assay; and to assess the usefulness of this assay for predicting risk of neonatal thrombocytopenia.

Methods: A total of 6770 pregnant women were included in the study, and the monoclonal antibody-specific immobilization of platelet antigens assay was done when platelet counts were less than 150 x 10(9)/L. Platelet counts were determined in 6103 newborns.

Neonatal thrombocytopenia: incidence and characterization of maternal antiplatelet antibodies by MAIPA assay.

Neonatal thrombocytopenia (NNT) which is frequent in distressed newborns was uncommon in a non-selected population of neonates. The aim of this prospective study was to determine the frequency of NNT and, in confirmed NNT, to search for maternal antiplatelet antibodies with a monoclonal antibody-specific immobilization of platelet antigens (MAIPA) assay. Among the 8388 newborns studied, 40 (0.

Second-trimester maternal serum screening for Down's syndrome: free beta-human chorionic gonadotrophin (HCG) and alpha-fetoprotein, with or without unconjugated oestriol, compared with total HCG, alpha-fetoprotein and unconjugated oestriol.

The aim of our study was to compare three protocols for second-trimester maternal serum screening for Down's syndrome in the same serum samples, using two triple tests [total human chorionic gonadotrophin (HCG), alpha-fetoprotein, unconjugated oestriol; and free beta-HCG, alpha-fetoprotein, unconjugated oestriol] and a double test (free beta-HCG and alpha-fetoprotein). The three protocols were compared in a series of 23 serum samples from Down's syndrome pregnancies and in a cohort of 2516 pregnant women receiving routine antenatal care between June 1992 and June 1993. Among the 23 affected cases, at a cut-off risk of 1:380, the detection rate of Down's syndrome was comparable with the double test (74%; 17/23) and the triple tests (65%; 15/23) (not significantly different).

Is intrapartum vibratory acoustic stimulation a valid alternative to fetal scalp pH determination?

Objectives: To determine the association between fetal heart rate accelerations, whether spontaneous or induced by vibratory acoustic stimulation, and subsequent scalp pH values in presence of a suspicious intrapartum fetal heart rate tracing, and thereby assess the ability of accelerations to predict a concurrent normal fetal scalp blood pH.

Design: Prospective observational study of 253 labours involving 421 pH samples.

Setting: Tertiary care university hospital of Genoeva.

[Toxoplasmosis in pregnancy: prevention, prenatal diagnosis and treatment].

Maternal infection with Toxoplasma gondii acquired during pregnancy occurs in more than 500 women per year in Switzerland. Systematic screening at the beginning of pregnancy allows the introduction of health education programs. The screening during pregnancy is performed to diagnose primary maternal infections and to propose prenatal diagnosis and treatment.