Intrauterine transfusion in 103 fetuses with severe anemia caused by parvovirus infection. A multicenter retrospective study.

Purpose: Evaluating procedure-related complications and perinatal outcomes after intrauterine transfusion (IUT) before or after 20 weeks of gestation in fetuses with severe anemia due to intrauterine human parvovirus B19 infection.

Methods: A retrospective study investigating fetuses requiring IUT for fetal Parvo B19 infection in two tertiary referral centers between December 2002 and December 2021. Procedure-related complications, intrauterine fetal death (IUFD), and perinatal outcome were correlated to gestational age (GA) at first IUT, the presence of hydrops and fetal blood sampling results.

Updated DEGUM Quality Requirements for the Basic Prenatal Screening Ultrasound Examination (DEGUM Level I) between 18 + 0 and 21 + 6 weeks of gestation.

A precondition for the early detection of fetal abnormalities is the high quality of prenatal basic ultrasound (screening examination). The objective of ultrasound screening is the recognition of abnormal fetal growth and fetal anatomical anomalies. The prenatal detection of fetal abnormalities enables detailed prenatal counselling of parents, improved care at birth and potentially a reduction in morbidity and mortality.

Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.

Autosomal-recessive SLOS is caused by mutations in the DHCR7 gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is often missed at prenatal ultrasound and fetal autopsy METHODS: We performed autopsies and DHCR7 gene analyses in eight fetuses suspected of having SLOS and measured cholesterol values in long-term formalin-fixed tissues of an additional museum exhibit RESULTS: Five of the nine fetuses presented classical features of SLOS, including four cases with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy-Walker cyst.

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.

The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened "flipper-like" limbs, polysyndactyly, excessive underossification, especially of the limb bones and vertebrae, and large (giant) chondrocytes in the cartilaginous bone primordia.

Early Intrauterine Transfusion in Fetuses with Severe Anemia Caused by Parvovirus B19 Infection.

Objective: To describe procedure-related complications and perinatal survival after intrauterine transfusion (IUT) before 20 weeks of gestation in fetuses with severe anemia due to human parvovirus B19 infection.

Materials And Methods: A retrospective study was conducted of all fetuses requiring IUT before 20 weeks of gestation in two tertiary referral centers between January 2002 and July 2015. Gestational age (GA) at first IUT, fetal blood sampling results, and presence of hydrops were related to procedure-related complications, fetal death (FD), and perinatal outcome.

Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.

Introduction: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele.

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers.

Prenatal diagnosis of congenital cytomegalovirus infection in 115 cases: a 5 years' single center experience.

Objective: The objective of this study is to investigate the diagnostic value of invasive prenatal diagnosis (PD) of congenital cytomegalovirus (CMV) infection from amniotic fluid (AF) and fetal blood (FB).

Methods: A retrospective study was conducted on 115 pregnancies with CMV primary infection. A total of 111 AF and 106 FB samples were investigated for various virological and non-virological markers.

Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.

Congenital dyserythropoietic anemias are rare hematological disorders leading to ineffective erythropoiesis with chronic anemia, complicated by iron overload. Here we present a remarkable clinical course of an infant with CDA type II who first presented as a severe fetal hydrops, requiring serial intrauterine red cell transfusions. While postnatal transfusion dependency persisted, the patient was successfully transplanted with a myeloablative conditioning regimen and peripheral blood stem cells of a matched donor.

Serological and virological analysis of maternal and fetal blood samples in prenatal human parvovirus b19 infection.

Background: Intrauterine parvovirus B19 (B19V) infection can be asymptomatic or may cause severe fetal complications. Information on serological and virological findings of infection in the fetus is scarce.

Methods: We determined B19V-DNA and anti-B19V antibodies in maternal and fetal blood samples obtained from 41 pregnancies that were complicated by prenatal B19V infection.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.

PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia.

Multiple hepatic mesenchymal hamartomas in a premature associated with placental mesenchymal dysplasia.

Placental mesenchymal dysplasia (PMD) is an uncommon disorder that has to be differentiated histologically from a partial mole. In contrast to a hydatitiform mole, PMD can coexist with a viable fetus. Placental mesenchymal dysplasia is characterized by placentomegaly and dilatation of the chorionic vessels.

A new platelet alloantigen, Swi(a) , located on glycoprotein Ia identified in a family with fetal and neonatal alloimmune thrombocytopenia.

Background: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a bleeding disorder caused by transplacental passage of maternal antibodies to fetuses whose platelets (PLTs) express the corresponding human PLT antigen (HPA).

Study Designs And Methods: We observed a fetus with FNAIT who died from a severe intracranial hemorrhage. Analysis of maternal serum in antigen capture assay with paternal PLTs showed reactivity with PLT glycoprotein (GP)IIb/IIIa (α(IIb) β(3) ) and GPIa/IIa (α(2) β(1) integrin), indicating the presence of anti-HPA-1a and an additional alloantibody against GPIa (termed anti-Swi(a) ).

Fetal manifestation of the Fine-Lubinsky syndrome. Brachycephaly, deafness, cataract, microstomia and mental retardation syndrome complicated by Pierre-Robin anomaly and polyhydramnios.

Objectives: We report on a female fetus of 24 weeks gestational age with Fine-Lubinsky syndrome (FLS), representing the 7th case published so far.

Methods: Prenatal ultrasound was performed at 22+1 weeks of gestation and thorough postmortem examination was made after termination of pregnancy.

Results: The diagnosis of FLS in the fetus was based on characteristic features that were already apparent in early prenatal life, such as growth deficiency, brachycephaly, flat face with associated dysmorphic signs, microstomia and cataract, while deafness and mental retardation, which are syndrome-specific functional disorders and evident only postnatally, could not be taken into account.

[Chemotherapy-induced fetal anemia in maternal acute myelocytic leukemia].

This article discusses the management of a pregnancy of a 32-year-old primigravida with acute myelocytic leukemia treated with induction chemotherapy starting in the 20 + 5 week of gestation. Sonographic monitoring showed evidence of fetal ascites and anemia that could be treated with an intrauterine fetal transfusion. After maternal recovery, a caesarean section was performed in the 27 + 5 week of gestation.

Application of locked nucleic acids to improve aptamer in vivo stability and targeting function.

Aptamers are powerful candidates for molecular imaging applications due to a number of attractive features, including rapid blood clearance and tumor penetration. We carried out structure-activity relationship (SAR) studies with the Tenascin-C binding aptamer TTA1, which is a promising candidate for application in tumor imaging with radioisotopes. The aim was to improve its in vivo stability and target binding.

Segmental arterial mediolysis in a preterm.

We firstly report on a dystrophic preterm infant with segmental arterial mediolysis (SAM) found in arteries of placental, umbilical and cerebral tissues. These arterial lesions of unknown etiology developing in the elderly are characterized by segmental lysis of the abdominal splanchnic arteries followed by aneurysms and acute bleeding. Typically, the lesions occur in a skip pattern.

Monozygotic triplets and monozygotic twins after ICSI and transfer of two blastocysts: case report.

There are data regarding the possible influences of extended embryo culture to the blastocyst stage as well as zona pellucida manipulation on the incidence of monozygotic multiples. This is interesting, as one aim of extended culture with embryo selection is to minimize the multiple pregnancy rate. We report, to our knowledge, on the first case of monozygotic twins and monozygotic triplets after ICSI and the transfer of two blastocysts.

Evaluation of bacterial RNase P RNA as a drug target.

RNA has gained increasing importance as a therapeutic target. However, so far mRNAs rather than stable cellular RNAs have been considered in such studies. In bacteria, the tRNA-processing enzyme RNase P has a catalytic RNA subunit.

Longitudinal thrombopoietin plasma concentrations in fetuses with alloimmune thrombocytopenia treated with intrauterine PLT transfusions.

Background: The purpose of this study was to describe longitudinal thrombopoietin (TPO) plasma concentrations in fetuses with fetomaternal alloimmune thrombocytopenia (FMAIT).

Study Design And Methods: Group 1 was the control group, 8 fetuses with normal hematopoiesis. Group 2 consisted of 4 nonthrombocytopenic fetuses with fetomaternal human PLT antigen incompatibility.