A survey to assess the incidence of Down syndrome risk in rural southwestern Romania.

Despite the significant evolution in recent years in the medical field, many fetal conditions that can be detected in the early stages, remain a social and economic burden due to a lack of diagnostic and treatment programs. The main objective of the present study was to realize a screening program related to the early detection of Down syndrome, by analyzing biochemical and imaging markers, in women from the rural areas of Southwest Romania. Accordingly, data from 269 pregnant women were taken into evaluation for maternal age, maternal weight, smoking and diabetic statuses, along with ultrasound measurements that were performed to establish fetal nuchal translucency (FNT) and biochemical analysis of free β-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein (PAPP-A).

Stillbirth in dichorionic twins discordant for major and minor anomaly, followed by asynchronous delivery - a rare occurrence. Case presentation.

The single stillbirth long-term intrauterine retention in dichorionic twin pregnancy is rarely reported. Also, the birth of a fetus is followed in most cases by immediate expulsion of the second twin. We hereby present an unusual case of asynchronous delivery of dichorionic twins, associating discordance for major and minor anomaly.

[Kostmann disease in children].

Kostmann's disease (KD) is a severe congenital neutropenia, a rare autosomal recessive disorder of neutrophil number. Complete blood count with differential reveals an ANC less than 500/mm3 as seen in classic cases, monocytosis and eosinophilia. Bone marrow aspiration or biopsy reveals an arrest of neutrophil precursor maturation at the promielocyte or myelocyte level.